Bota 111 General Genetics Elearning Materials

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BOTA 111 General Genetics elearning materials
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EGERTON UNIVERSITY
COLLEGE OF OPEN AND DISTANCE LEARNING
THE E-CAMPUS
E-LEARNING COURSE
BOTA 111: GENERAL GENETICS
By
PROF. OKIROR, M. A.
June, 2020
__________________________________________________________
BOTA 111: GENERAL GENETICS PAGE 1 OF 212

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COURSE PRELIMINARIES
BOTA 111: GENERAL GENETICS
Is this course for you?

This is a foundation course for all first year students taking biology-related
disciplines, agricultural sciences, natural resources, biochemistry, science
(biology), and veterinary sciences. It9s a convergence discipline in biological
sciences. As captured by the title, its general in scope, because it introduces
students to the major sub-disciplines of genetics, namely cytogenetics,
qualitative or Mendelian genetics, quantitative genetics, molecular genetics,
and populations genetics. At the conclusion of this course you will not only be
well grounded in biological heredity but can confidently apply this knowledge
and skills gained in related subsequent courses like plant/animal breeding,
molecular genetics, and recombinant DNA technology, among others.
Introduction to the course
Genetics is about biological heredity and variation in individuals of common

descent. Genetics has been applied as a science and an art since time
immemorial. However, the scientific basis of heredity came to be understood,
appreciated and applied only after Mendel9s published laws of heredity at the
beginning of the last century. Genetics has been described as a science with
the shortest <new knowledge= generation period, of months. In fact, it is a
subject all learners gain an insight and appreciation of themselves as genetic
animals. Not only is knowledge about genetics accumulating rapidly, but its
many applications now affect humanity daily. The coverage of this course
gives the student a broad understanding of the gene and its function as a unit

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of heredity. Thus at the end of this course, the student can confidently
undertake applied principles of genetics.
Course Content
This course comprises 10 topics. The theory part is supported by at least five
practical sessions. The topics are:
Topic 1: Introduction to genetics
Topic 2: Chromosomes and Genes
Topic 3: Cell Divisions (mitosis and meiosis)
Topic 4: Mendelian Genetics
Topic 5: Statistics application in genetics
Topic 6: Quantitative genetics
Topic 7: Sex determination and inheritance
Topic 8: Mutations (gene and chromosome)
Topic 9: Molecular heredity
Topic 10: Population genetics
Course learning outcomes
After successful completion of this course, you should be able to:
1. Describe how the science of heredity has developed since stone age to
the C20th, and define basic terms that came into use since the
discovery of Mendel9s laws of heredity in 1900.
2. Demonstrate the key roles of genes and chromosomes in heredity.
3. Explain the cytological basis of basis through the processes of mitosis,
meiosis and gametogenesis.

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4. Describe Mendelian studies of heredity leading to understanding of

transmission genetics.
5. Demonstrate the centrality of statistical methods in accounting for
genetic phenomena.
6. Demonstrate that a trait is not necessarily controlled by one gene, and
to determine number of genes controlling quantitative traits.
7. Explain the various modes of sex determination, and inheritance of
sex-linked traits.
8. Describe the role of mutation both at gene and chromosome levels in
creating genetic variability.
9. Describe the molecular structure of the gene and how it causes the
phenotype(s) associated with it.
10. Describe the behavior of genes in Mendelian populations and
evolutionary forces that could affect the Hardy-Weinberg law.
Course Study Skills
As an adult learner your approach to learning will be different to that from

your school days: you will choose what you want to study, you will have
professional and/or personal motivation for doing so and you will most likely
be fitting your study activities around other professional or domestic
responsibilities.
Essentially you will be taking control of your learning environment. As a

consequence, you will need to consider performance issues related to time
management, goal setting, stress management, etc. Perhaps you will also
need to reacquaint yourself in areas such as essay planning, coping with
exams and using the web as a learning resource.

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Your most significant considerations will be time and space, that is, the time
you dedicate to your learning and the environment in which you engage in
that learning.
We recommend that you take time now - before starting your self-study - to
familiarize yourself with these issues. There are a number of excellent
resources on the web. A few suggested links are:
http://www.how-to-study.com/
The "How to study= web site is dedicated to study skills resources. You will
find links to study preparation (a list of nine essentials for a good study place),
taking notes, strategies for reading text books, using reference sources, test
anxiety.
http://www.ucc.vt.edu/stdysk/stdyhlp.html
This is the web site of the Virginia Tech, Division of Student Affairs. You will
find links to time scheduling (including a "where does time go?= link), a study
skill checklist, basic concentration techniques, control of the study
environment, note taking, how to read essays for analysis, and memory skills
("remembering=).
http://www.howtostudy.org/resources.php
This is another "How to study= web site with useful links to time management,
efficient reading, questioning/listening/observing skills, getting the most out
of doing ("hands-on= learning), memory building, tips for staying motivated,
developing a learning plan.
Need Help?

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This course was developed in June 2019 by prof. Michael A. Okiror, Phone:
+254722280311; Email: [email protected]. Prof. Okiror is a Lecturer
of Genetics in the Department of Biological Sciences at Egerton University.
My office is located in the Department of Biological Sciences (Annex), Faculty

of Science. You may consult me during the normal working hours between
Monday and Friday or contact me through the above phone and/or email
address.
For technical support e.g. lost passwords, broken links etc. please contact
tech-support via e-mail [email protected]. You can also reach learner
support through [email protected].
Assignments/Activities
Assignments/Activities are provided at the end of each topic. Some

assignments/activities will require submission while others will be self-
assessments that do not require submission. Ensure you carefully check
which assignment require submission and those that do not.
Course Learning Requirements
 Timely submission of practical write-ups (15%)

 Sitting 2 CATs (15%) – CAT 1 marks are derived from assignments.
 Final Examination (70% of total score)
Self-assessment

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Self-assessments are provided in order to aid your understanding of the

topic and course content. While they may not be graded, you are strongly
advised to attempt them whenever they are available in a topic.

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TOPIC 1. INTRODUCTION TO GENETICS
Introduction
As the first topic in this module, a basic outline is given of key concepts
of the science of genetics. Heredity being the key concept, an elaborate
explanation with examples is given. Key terms that will aid you in building
an understanding of this subject are defined; the historical development of
this science too is briefly discussed. Like all subjects, its intellectual value as
well as practical benefits to the reader and society at large are expounded.
Topic Time
Two lecture hours is estimated adequate for this topic. The field of
genetics is so complex that a gradual induction of the students into the
course is essential for them to learn and become interested in this subject.
This topic will for sure enhance your understanding and appreciation of
genetic principles in following topics. Some aspects maybe familiar but there
are also those you are encountering for the first time!
Learning Requirements
As an introductory topic to General Genetics, its imperative that students

revisit that which they learned at the preceding level, especially on aspects
heredity. Thus, biology notes at high school will prove especially useful in
assisting you in this and follow up topics.
Learning Outcomes
After successfully completing this topic, you should be able to:
(1) Explain the basic concepts of the science of genetics;

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(2) Define most of the common terms encountered in genetics, such as

gene, genotype, phenotype, homozygote, heterozygote, allele, epistasis,
trait, hybridization, pure line, breeding, etc.;
(3) Outline the historical evolution of genetics to the present times;
(4) Enumerate and discuss practical benefits and applications of genetics
(5) Answer any questions relevant to this topic.
Topic Content
1.1 Learning Genetics
In the surrounding you live in, different groups of organisms – human

beings, plants and animals – are found. A casual examination of any of
them, reveals differences in characters such as height, skin complexion,
hair, personality, etc. in humans. No two individuals are exactly alike even at
the family level! Moreover, among these organisms they each produce its
type, i.e. humans give birth to babies, dogs to puppies, goats to kids, etc.
Have you ever contemplated the explanation? Two words – heredity and
variation – hold the key to the puzzle.
The science of genetics is about the operating mechanisms of heredity

and variation in organisms with a common ancestry. Therefore, we study
genetics to:
1) Understand humanity – our origin, uniqueness or individuality, abilities,

etc.
2) Appreciate the place of genetics in our existence on this planet, e.g. food,
security, poverty alleviation, etc.

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3) Appreciate how genetic information directs cellular function, determines

an organism9s appearance, and serves as a linkage between generations in
every species.
A working knowledge of genetics is therefore fundamental to account for

and investigate abstract concepts of life. It lays a good foundation for the
student to study areas such as breeding (both animal and plant) and
appreciate the working of certain forces in changing gene frequencies of
populations of organisms leading to their improvement.
The science of genetics has been growing and expanding since the pre-
Mendelian concepts on heredity (i.e. BC) through Mendel9s experimentation
in the 1850s and the rediscovery of his principles of heredity in 1900 our
understanding of the molecular basis of heredity to date! It is an upheld fact
that the rate of doubling of genetic knowledge currently is less than two
years while it is about ten years for science generally.
Although genetics is as old as civilization, modern genetics is a product of

the C20th. This is so because scientists then began to recognize it as a
formal science. Biologists had attempted to study the basis heredity before
then, particularly during the 17th and the 18th centuries, but largely with
little understanding. However, in 1850s and 60s, Gregor Mendel, in a
remarkable leap of insight, discovered and correctly described the patterns
of inheritance of individual traits in peas and beans - concisely accounting
for the transmission of traits between parents! Modern genetics too has led
to the unraveling of the structure and function of genes, their isolation and
manipulation, and transfer across species barriers, marking the birth of
recombinant DNA technology.

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1.2 Definitions
Some terms are routinely used to explain genetic operations. A brief

description of each is necessary at this point of our module. However, many
others will be defined as and when they appear in the text.
The independent rediscovery in 1900 of Mendel9s paper by Hugo de Vries,

Tshermak and Carl Correns caused great excitement in the biological
fraternity. This is because his laws (or principles) of heredity could now
explain the mechanism of heredity. Extensive study of genetics thus followed
and invention of new terminology was one of its first fruits.
First, the discipline was called genetics, and Mendel9s hereditary units
became the genes. Terms such as allele, chromosome, locus, genotype,
phenotype, homozygous, heterozygous, filial generations, trait, hybrid, and
breeding came into usage. These and other terms are defined below.
Genetics: According to the English geneticist Bateson (1906) is <the science

dealing with heredity and variation, seeking to discover the laws governing
similarities and differences in individuals related by descent=. You notice that
two terms, heredity and variation are prominent in this definition. What do
they mean?
Heredity: is that mechanism by which traits or characteristics are passed on

from one generation to another (i.e. parent to progeny) leading to
similarities among organisms. You must have come across the statement,
<Like begets like=. It explains the basis of similarities between offsprings and
parents.
On the other hand, variation refers to the differences between parents and
their offsprings and within the offsprings. Each individual has its unique
traits that identify it from others despite being related.

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Gene: The hereditary units that are transmitted from one generation to the
next (i.e. inherited) were initially called <factors= by such biologists as Wolff
and Maupertuis in the C18th. Later, other scientists, among them Mendel
called them <particles=. However, in honor of G. Mendel, some scientists
called them <Mendelian factors=. It was the Danish botanist W. Johannsen
who in 1905 coined the term gene. So, what is a gene?
A gene is <the basic functional unit of heredity=. It occupies a specific

position (locus) within the genome or a chromosome. At molecular level a
gene is a =linear array of nucleotides= – the chemical building blocks of
nucleic acids, DNA and RNA.
Because genes reside in chromosomes, the behavior of genes is therefore

parallel in many ways to the behavior of chromosomes, e.g. during cell
divisions.
Chromosome: Is a linear organelle made up of nucleic acid and proteins

and carrying genes. Chromosomes are either homologous or homoeologous.
Homologous chromosomes: are those that pair during meiosis. They contain
the same linear sequence of genes and as a consequence each gene is
present in duplicate.
Homoeologous chromosomes: are those that are only partially homologous.
Johannsen also coined the terms <genotype= and <phenotype=.
Genotype: the genetic constitution of an organism with reference to the

traits under consideration and usu. expressed by a symbol, e.g. T, R, etc.
Phenotype: the appearance or measurement of a character and usu.

expressed in words, e.g. red flowers, 500-g weight, your blood group, etc. It
is usually the sum total of the genotype and the influence of environment.
This relationship is appropriately called the <nature – nurture theory= and
is represented as follows:

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P = G + E; where P = phenotype, G = genotype, and E = environment
Environment: includes all factors (both internal and external) that

influence the expression of the genes controlling a character, e.g. moisture,
fertility, human actions, etc.
Other technical terms introduced by Bateson were: homozygote,

heterozygote, allelomorph, Filial (F1 and F2) for daughter generations, and
epistasis.
Homozygote: An individual carrying identical alleles at a given locus in its

homologous chromosomes. Usually it produces only one type of gamete. For
instance, if the individual was of genotype RR then it will produce only R-
bearing gametes. The union of two such gametes yields a homozygous
genotype (below).
egg sperm
uniting gametes: A A
zygote (homozygous genotype) AA
gamete A
Heterozygote: an individual in which the gene and its allele in a

homologous pair are not identical. Such individuals always produce more
than one kind of gametes.
egg sperm
uniting gametes: A a

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zygote Aa
gametes: A a
Allelomorph (abbrev. Allele): one of a pair or a series of possible

alternative forms of a gene than can occur at a locus. Where more than two
alleles exist in a locus, we talk of a multiple allelic series.
The alleles of a double heterozygote (a dihybrid) at two loci can exist in

either the coupling or the repulsion phase.
Coupling (cis): occurs if two dominant alleles are on the same chromosome
and their recessive counterparts occur on the other chromosome (A B / a b).
Repulsion (trans): occurs when a dominant allele of one gene and a

recessive allele of the other gene are on one chromosome and the opposite
occurs on the other chromosome (A b / a B).
Locus (pl. loci): a specific position on a chromosome occupied by a gene. All

forms of a gene are found at corresponding positions on genetically similar
(homologous) chromosomes.
Filial generations: the first filial generation (F1) results from the parental
(P) mating, i.e. P1 x P2. The F2 filial generation is the subsequent generation
produced by breeding together the F1 offspring. Inbreeding the offspring of
each subsequent generation results in F3, F4, F5, etc.

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P generation: this is the parental generation. Usu. such parents are true
breeding or are homozygous.
Epistasis: it is the interaction of genes at different loci. If the genes are T

and R, these can affect each other in various ways leading to different
phenotypes.
Traits (or characteristics): the visible or detectable phenotypic properties

of an organism. They are either qualitative or quantitative, depending on the
number of genes that control them and the importance of the environment
on the genes.
Qualitative: have phenotypes that can be divided into discrete classes. One
or a few major genes control it and its expression is not influenced markedly
by environment. Resistance to some disease in plants is one such trait when
resistant or susceptible plants can be clearly distinguished.
Quantitative: this trait displays a continuous distribution of phenotypes.

Such a trait is controlled by many genes, each with a small effect which are
additive and are influenced markedly by the environment, e.g. seed yield in
a crop. It is due to many genes and strongly influenced by environment.
Hybridization: in Mendelian terms, this is the mating of any two unlike

genotypes or phenotypes. An F1 resulting from crossing two parents that
differ by single characteristic is called a monohybrid and the F1 produced
by crossing parents that differ by two characters is called a dihybrid.

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Pureline: a line of organisms produced by individuals with similar genetic

backgrounds or following several generations of selfing.
Breeding: the art and science of the genetic improvement of an organism.

Its overall aim is to improve those characteristics of a species that
contributes to its economic value.
1.3 History of Genetics
This section takes you through the different eras genetics has traversed in
its growth and advancement to the present, beginning in the prehistoric or
the Neolithic times to the 21st century.
Interest in heredity and the transmission of traits from generation to

generation can be traced back >10,000 years to pre-literate cultures (Stone
Age). However, only in the last 11 decades have students of heredity been
able to understand how <like begets like=, and therefore treats it like a
science.
Prior to the C17th, there was little useful information that has contributed to
the science of genetics. Only since the 20th century has biology been able to
explain the mechanisms of inheritance. Today, scientists know that
characteristics are not the result of blood but of DNA in cells. Solving the
puzzle of heredity has been one of the great achievements of modern
science.
1.4 Methods for Genetics Study

The level of understanding and advancement of genetics today has been
acquired by several methods of investigation, viz. experimental breeding,
statistical analysis, cytology and biochemical genetic studies. At this level we
shall only consider experimental breeding and statistical analysis.

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(1) Experimental breeding

Genetics being an analytical science is best understood through a study of
how genetics experiments are conducted and their results interpreted.
Do you accept the statement <Like-begets-like=? To answer it, you need
basic understanding of the patterns of inheritance of parental traits as
manifested in their hybrid progeny. To do this you need to:
(a) Hybridize the organisms with contrasting traits,
(b) Follow the manifestation of these traits through successive generations.
The organism under study must:
(a) Have a short life cycle. The organisms with the shortest lifecycles are the
microorganisms like bacteria and viruses. Therefore. they are the most
commonly utilized and documented in genetic analyses.
(b) Produce a large number of offspring. The ratio of one trait to another
indicates how it is inherited. So there has to be a large population of
offspring for ease of interpreting the results. Organisms with high prolificacy
are therefore most desirable, e.g. bacteria, Drosophila flies.
(c) Convenience and economy. The cost of care and feeding of experimental
animals can have profound effect on the required study. Therefore, use of
such animals as mice and Drosophila would be much cheaper compared say
to an elephant. Better still, studies with microorganisms are even more
economical and convenient. In fact, plants are commonly preferred to
animals because they need less space and attention. Since the method of
inheritance is basically the same in all forms of life, the information gained
through investigations of the fruit fly can be applied to other forms of life
including man.
(2) Statistical analysis.

Data obtained from experimental breeding must be analyzed, interpreted
and conclusions drawn. This is only possible through use of certain statistical

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functions, such as descriptive statistics, probabilities and ratios that are

especially useful in the study of heredity in qualitative traits and distribution
curves, graphs, etc. for quantitative traits.
1.5 The Cell and Heredity

All living organisms are made up of cells. A cell therefore is the smallest unit
of life and in it is located hereditary information. In trying to understand the
cell, only those aspects (organelles) of the cell relevant to understanding the
function and transmission of genetic material will be considered for three
reasons:
(1) During cell division most parts of cells must be distributed to the
resulting daughter cells.
(2) Certain cell structures, notably the centrioles, and related spindle
fibres, are essential to the mechanics of chromosome movement
during cell divisions.
(3) A basic principle in biology relates cell structure to genetics. This
principle affirms that cell function is closely correlated with cell
structure. Since the function of a cell is dependent on the
expression of specific genetic information, we conclude that the
variation in structure noted in dissimilar cells is also dependent on
specific genetic expression.
Organelles linked to heredity include:
Nucleus: functions as a control centre because it contains the genetic
information that ultimately determines the structure and shape of the
cell as well as the range of functions it carries out. It regulates growth
and reproduction of the cell. Found in it are chromosomes, the bearers
of hereditary instructions; nucleolus, function uncertain but may
synthesize ribosomes. The nucleus disappears during cellular
replication.

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Nucleoplasm: contains material for building DNA and messenger

molecules that act as intermediates between the nucleus and
cytoplasm.
Nuclear membrane: provides selective continuity between nuclear and

cytoplasmic materials.
Cytoplasm: contains the machinery for carrying out the instructions

sent from the nucleus.
Ribosomes: sites of protein synthesis.
Centrioles: found in pairs in animal cells and some simpler plants and
lie just outside the nucleus. Form poles for the divisional process and
are capable of replication.
1.6 Diversification of the Science of Genetics

Besides terminology, the re-discovery of Mendel9s paper, created great
interest and research in this science, e.g. to confirm whether similar results
could be found with animals, micro-organisms and other plants, and to find
out both the molecular structure and function of the hereditary unit. Thus,
not only did genetics experience rapid and irreversible growth, it also
became increasingly fragmented into narrower specialisms, viz:
Cytogenetics: the study of the structure and function of chromosomes as

vehicles of heredity. The pioneers in this area include W. Sutton and T.
Boveri (1902, 1903), T.H. Morgan and A. Bridges. They all tried to relate
gene assortment during cell divisions to chromosomal structure.
Biochemical genetics: Was borne from the union between genetic

principles and gene function. The isolation and chemical analysis of DNA
enabled geneticists to relate gene activity to protein formation, gene
mutation to certain phenotypic abnormalities, such as sickle cell anemia,

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alkaptonuria, albinism, etc. The condition of alkaptonuria was studied by Sir

A. Garrod and showed a relationship between the gene and protein (as an
enzyme).
However, a much stronger association was to be demonstrated 22 years

later. This was by Stanford geneticists, George Beadle and Edward Tatum
(19409s) with the fungus Neurospora.
From their observations, they came up with <the one gene- one enzyme
hypothesis= which has since been modified to < one gene- one
polypeptide hypothesis=.
Molecular genetics: Beadle and Tatum9s conclusion that genes somehow

control protein (enzyme) structure, led inevitably to studies of the chemical
structure of a gene as a first step in understanding the molecular basis of
genetic control for protein synthesis. Subsequently nucleic acids esp. DNA
was confirmed as material of which genes are made of.
DNA was first isolated in the 18609s by a Swiss Physician, F. Miescher.
Population genetics: the study of gene behavior in populations of plants or

animals. The basis for it is the Hardy- Weinberg law formulated in 1908 by
the English mathematician, G.H. Hardy and the German physician, W.
Weinberg. Population genetics is usu. limited to the inheritance of
qualitative characters, which are influenced by only a small number of
genes. Its principles can be applied to the design of selection strategies to
increase the frequencies of desirable genes, or more likely, the elimination of
undesirable ones.

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Quantitative genetics: A sub discipline that studies the effect of many

genes, each with a small but additive effect to the trait. Such traits include
milk yield, growth rate and litter size.
1.7 Practical Applications and Benefits of Genetics

Genetics has played a significant role in shaping human society both
historically and in modern times. Modern application of genetics has been
particularly important in medicine, agriculture, industry, and forensics. From
the little that you have read of genetics you will agree that it is a fascinating,
intellectual discipline.
Presently, it is claimed that no branch of science has contributed more to
man9s understanding of himself and the living world in general than genetics.
It deals with practical problems of food and drugs, of intelligence and
behavior, healing and the explosive problems of population (reproduction).
Genetic discoveries have provided new insights into such fundamental issues
as:
a) the origin of life;
b) the structure of living matter;
c) evolution.
Also genetics has yielded practical benefits over a broad range of human
concerns, from plant and animal breeding to the investigation of disease in
humans.
In fact, genetics is considered the backbone of biology - that science that
holds the promise for bettering the lot of mankind.
Major benefit to the society of genetics study has been in areas of
agriculture and medicine.
(1) Agriculture
(a) Genetic improvement has been important in agriculture since before
recorded history. In recent years, the development of modern breeding

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methods for animals and plants and the introduction of agricultural

biotechnology, have resulted in dramatic increases in the amount of food
produced and in substantial improvements in quality.
(b) An appreciation of the scientific principles of genetics among others has
led to the development of superior genotypes (e.g. cultivars, varieties,
breeds, etc.) of plants and animals spp.
Crop improvement.
The development of improved cultivars has made a major contribution to the
increased productivity and quality of plants used for their food, fibre or
aesthetic value.
An understanding of heredity and its application through selective breeding
and hybridization of any genetic variability available has led to:
i) Increase in yield and nutrient value in beans, maize, wheat, etc. In the
USA, use of improved genetic strains has led to a threefold increase in crop
yield per acre.
ii) Dramatic yield improvements in wheat and rice during the 19609s and
19709s played a major role in augmenting world food production, a
phenomenon referred to as the Green revolution. Prof. Borlaug N.E. is credited
for this revolution and in 1970 received the Nobel peace prize.
iii) Genetic resistance. This is the most effective means of biological control of
diseases, nematodes, and insects.
iv) Forage quality, leading to increasing productivity in livestock.
v) Tolerance to mineral stresses and environmental stresses.
vi) Pest control, e.g. the screwworm fly using irradiation
Animal improvement
Applied research in genetics has developed superior breeds of animals, viz.:
i) Chicken that grow faster, produce more high quality meat /chicken;
ii) Increased meat production / unit of food intake in swine, etc.

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(2) Medicine
The importance and place of genetics in medicine was recognised only from
the 1950s. By this time both medicine and genetics as two fundamental
sciences had become sophiscated and highly studied. For instance:
a) Numerous disorders in humans have been discovered to have a genetic
basis, e.g. sickle cell anaemia, haemophilia, Down9s syndrome, metabolic
disorders, etc. Recognition of the genetic basis of these disorders has provided
direction for the development of treatment and preventive measures, e.g.
controlling diet, adjusting to outside environmental conditions (e.g. albinos to
avoid direct sunlight), or intervening surgically (e.g. cleft palate) or with
hormone therapy.
b) Genetic counseling provides parents with objective information upon which
they can base rational decisions. Such counseling includes diagnosis of
parental genotypes, detailed pedigrees, and biochemical testing for many
biochemical disorders.
c) Knowledge in immunogenetics makes possible compatible blood transfusion
as well as organ transplant.
d) Through recombinant DNA technology, human genes that code for such
medically important molecules as insulin, and interferons have been cloned in
bacteria for the mass production of their end products.
e) Through human genetic engineering, it may be possible in the near future
to directly manipulate or alter the genetic makeup of an individual.
(3) Society
Knowledge of genetics has also been of assistance in:
(a) Disputed parentage (paternal) determination and/or mix up of babies.
Disputed parentage can often be resolved by a study of the inherited traits of
the parties involved. Initially this was through blood groups evaluation but
today this is by the non-ambiguous DNA profiles.

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(b) Sex determination, forensic work, esp. in murders using blood groups
and/or DNA fingerprinting. DNA fingerprinting is now a very popular and
recommended technique in unambiguously ascertaining one9s identity based
on blood, semen, hair follicles, and etc. specimens. It has been used to
establish a family relationship, catch a serial murderer, catch bank robbers,
prove a case against a president, etc.
Topic Summary
In this introductory topic, we have defined genetics as a science that studies
heredity and variation in living things. The evolvement of this science has been
rapid and growth phenomenal leading to its fragmentation into specialisms.
However, this was possible in the post-Mendelian era. Key terms were defined
and are explained. Finally, the importance of genetics and its practical benefits
to humanity are also described
Further Reading
1. G.W. Burns: The Science of Genetics (5/e) – chapter 1.
Assignment
1. Most of our ancestors did not receive formal education and yet routinely
and unconsciously applied genetics. Give an example in your community of
how this was undertaken.
2. In appendix 1 is a detailed drawing of a typical cell. Which organelles can

you associate with genetic phenomena? What genetic roles do they play?
3. Among the many branches of genetics, which one do you think best
recognized that heredity is attributed to instructions carried by a kind of
nuclear acid? How does this molecule do so?

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4. With specific examples known to you, evaluate genetics as an important

sub discipline of biology.

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TOPIC 2: CYTOGENETICS, CHROMOSOMES AND

GENES
Introduction
This topic is a continuation of topic 1 especially on section that covered
definitions. In this topic detailed consideration is made of a subdiscipline,
and two terms briefly defined, genes and chromosomes. In this topic
therefore, a detailed review of these terms is made to emphasise their
centrality in heredity. You will recall also that chromosomes were reported
as found in the nucleus and therefore were believed important in the
passage of traits between generations.
Topic Time
As we progress into the course, our next consideration is an expended
review of three fundamental elements to heredity – gene and chromosomes,
and the merger of genetics and cell study. We should sufficiently cover this
topic in two lecture hours. Any other time availed is for self-study and
carrying out assignments.
As a rapidly evolving discipline, genetics and associated sub-disciplines
needs wider reading of current literature to appreciate its advancement. So,
this is strongly encouraged even in this topic.
Learning Outcomes
When you have completed this topic, you should be able to:
1) Explain the importance of genes and chromosomes in heredity,
2) Describe the composition of a chromosome,
3) List and explain features of a chromosome,

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4) Characterise chromosomes based on either on the types or their

morphological features,
5) Define a karyotype and describe how it is prepared and its use
6) Differentiate chromosomes of eukaryotes, prokaryotes and viruses
Topic Content
2.1 Cytogenetics
Perhaps one reason Mendel9s discoveries were not appreciated by the

scientific community then was that cellular processes such as mitosis and
meiosis had not yet been discovered. During the years 1870 to 1900, rapid
advances were made in the study of cells (cytology). So, at the turn of the
century when Mendel9s laws were rediscovered, the cytological basis was
available to render the statistical laws of genetics intelligible in terms of
physical units.
Cytogenetics is a hybrid science that attempts to correlate cellular events,

especially those of the chromosomes, with genetic phenomena. It deals with
the study of heredity through the methods of cytology and genetics. It is
concerned with the structure, number, function and movement of
chromosomes and the numerous variations of these properties as they relate
to the transmission, recombination, and expression of genes. It also deals
with non- chromosomal hereditary factors
(1) Cytology
Is the study of the internal structures of cells and their function, e.g. of
chromosomes: behavior, number, structure, etc. and relating this to cell
characteristics.

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The study of cells begun way back in the C17th. In 1665, Robert Hooke
made thin slices of solid cork and observed them under the microscope. He
saw what appeared like honeycombs. He later called them cells.
With the improvement of the microscope and techniques of preparing,

staining and preserving specimens, greater details were resolved in the
8honeycombs9. These and subsequent studies showed that the cell was truly
a complex unit of life.
In the period 1838 –39, T. Schwann and M.W Schleiden advanced one of the
most important theories of biology. This is the 8cell theory9. It describes the
cell as <the basic organizational unit of life=. This theory was reinforced later
by subsequent studies, such as of Virchow (1859) stating that <cells
originate only from pre-existing cells (<omnis cellula e cellula=). Other
concepts followed related directly to the cell, that is that nuclei arise from
pre-existing nuclei; that chromosomes arise from pre-existing
chromosomes; and that genetic information arises from pre-existing genetic
information.
(2) Genetics
Modern genetics as we know it is the product of the C20th. It transverses the

rediscovery of Mendel9s paper, the establishment of the theory of the gene,
the identification of deoxyribose nucleic acid (DNA) as the hereditary
through to recombinant DNA technology.
In genetics we study how genes cause the expression of characters, e.g.

color of eyes of D. melanogaster. To ascertain the heritability of a character
we analyze the progeny, e.g. F1, F2, etc.
2.2 Chromosomes

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While Gregory Mendel was investigating patterns of inheritance by breeding

pea plants in his monastery garden in the 1860s, cytologists such as M.W.
Schleiden and T. Schwann were studying the structure of cells. With better
microscopes coupled with advances in staining techniques, cellular
organelles were revealed, e.g. the nucleus. By 1879, the nucleus was found
to contain material that stained intensely. This material was called
chromatin, from the Greek word <chromas= for 8to color9. Detailed
observations showed this chromatin to exists in thread-like forms. In 1888,
W. Waldeyer coined the term chromosome (colored body) for these thread-
like bodies in the nucleus. By early 1900s, a great deal was known about
chromosome structure and behavior.
Thus, Chromosomes take their name from the fact they readily absorb dyes
and stand out in strong color when cells are stained. They are easily seen in
dividing cells. Generally, plants have bigger chromosomes than animals, and
among plants, monocotyledons have bigger chromosomes than dicotyledons.
1. Chromosome number
A diploid cell contains two sets of chromosomes, one inherited from the
maternal, and the other from the paternal parent. Each chromosome from
either parent is similar (but not identical) to a homologous chromosome
from the other parent.
The number of chromosomes in a haploid genome is designated as n. This is

also the designation for gametes. A somatic cell of a diploid organism has 2n
chromosomes in the nucleus. Thus somatic human cells for example are
designated as 2n and have 46 chromosomes.
The number of chromosomes, with rare possible exceptions, is species

specific (below).

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Table 2.1 Chromosome number in some plant and animal species
Organism Chromosome no. Organism Chromosome no.
Man 46 Garden pea 14
Cattle 60 Garden onion 16
Cat 38 Bean 22
Fruit fly 8 Cabbage 18
Horse 64 Maize 20
Honey bee 32, 16 Orange 18, 27, 36
________________________________________________________
2. Morphological features
A number of morphological features have been identified that can be used to

classify chromosomes. Key among them are size, and centromere position.
Chromosomes differ in their sizes and morphology within and between
species.
(1) Size
If a complement of chromosomes of any species is examined, these

chromosomes will be observed to be of have various lengths-some long,
others medium, and still others short. For instance, in humans, there is a
three- to four-fold difference between chromosome 1 (the longest) and
chromosome 21 (the shortest). However, chromosome size may be affected
by the stage of cell cycle when these chromosomes are measured, cell type,
and organism. Characteristically, chromosomes are fully contracted (coiled)

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at the metaphase stage and fully extended at interphase and early

prophase.
(2) Centromere position
Its location on the chromosome is probably the most important landmark

categorizing any chromosome. A centromere is a region of primary
constriction on the chromosome. It is important in the process of movement
of chromosomes within the cell as spindle fibers attach to it during cell
division. It is therefore also appropriately called the spindle fiber attachment
point. The centromere may vary in its location in resulting in five typical
chromosome types, namely:
(a) Metacentric or median chromosome. This is a chromosome in which the

centromere is central dividing the chromosome into two equal arms. A
classic example is human chromosomes 1 and 19.
(b) Submetacentric chromosome. Is a chromosome in which the centromere

is sufficiently away from the mid-point of the chromosome such that arms
(p, q) are distinctly unequal. Example is human chromosome 4.
(c) Telocentric chromosome. Is one in which the centromere is the end of

chromosome, making the chromosome have only one arm.
(d) Acrocentric chromosome. Is a chromosome with the centromere so close

to the end that the short arm is only just discernible, e.g. chromosomes
13 and 14.
(e) Acentric fragment. Is a segment of a chromosome that has broken off

and does not contain a centromere. It is usually lost, or deleted from the
cell if it does not attach to any other chromosome.

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(3) Chemical composition of chromosomes
In most organisms, a chromosome on chemical analysis yields nucleic acids

(DNA, RNA) and protein. Also to be found are lipids, polysaccharides, and
metal ions such as Ca++, Mg++ and Fe++. The nucleic acids and proteins are
organized into material called chromatin. The chromatin is of two types -
hetero- and euchromatin.
(a) Euchromatin is characteristic of location of genes. Under light it stains

less intensely and the DNA herein is typically less compact as it is being
transcribed.
(b) Heterochromatin is condensed and is believed to slow down replication of

a chromosome. The DNA of such regions is never transcribed. Thus are
regions of gene inactivity.
(4) Chromosome types
Chromosomes can basically be classified into three categories: viral,

prokaryotic, and eukaryotic.
(a) Viral chromosomes: occur singly and contain either DNA or RNA. The
DNA- containing kind are either linear (e.g. T-phages) or circular (animal
viruses), while the RNA-containing are composed of a linear, single
stranded molecule and occur in some animal viruses (e.g. poliomyelitis,
etc.), most plant viruses (e.g. TMV) and some phages. Usu. viral
chromosomes contain genetic material enough to encode 3 - 200
proteins.
(b) Prokaryotic (or protocell) chromosomes: these are chromosomes of

bacteria and blue-green algae. The genome of prokaryotes is a single
circular molecule of DNA. It divides most of the time by the semi
conservative method.

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(c) Eukaryotic chromosomes: these are chromosomes of higher organisms,

e.g. plants and animals. They are slightly more complex than the others.
They are characteristically linear. Eukaryotes have several linear
chromosomes (Table 2.1).
(5) Specialized chromosomes
Besides possessing the usual type of chromosomes in their body cells,

eukaryotes also contain some unusual and special types. These are found in
some body cells or at some particular stage of their life cycle. Such
chromosomes include polytene (giant or salivary gland) chromosomes,
lampbrush chromosomes, B chromosomes, ring chromosomes, and sex
chromosomes.
2.3 KARYOTYPING
A karyotype is a complete set of metaphase chromosomes in a cell. In it

individual chromosomes are systematically arranged according to size,
number, and shape. A karyotype is species-specific. For instance, a human
karyotype comprises:
Group A = 1 - 3: very long and are median;
Group B = 4 - 5: long and are submetacentric;
Group C = 6 - 12: medium length submetacetrics;
Group D = 13 - 15: medium length, centromeres near terminal;
Group E = 16 - 18: short, but 16 has median centromere and 17 & 18, sub
median;
Group F = 19 -20: shorter than E and with median centromeres;

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Group G = 21 - 22: very short with submedian centromeres;
Sex group = X and Y. X is similar to the C group while Y to the G group.
Each species has its unique karyotype.
Use
Karyotypes enable geneticists to identify certain chromosome aberrations

that correlate with congenital abnormalities or dysfunctions. For instance,
extra chromosome 21 in humans would point to Down9s syndrome, loss of
the distal part of chromosome 5 to the case of cri-du-chat and so on.
Specimens
Specimens for karyotype preparation in human beings can be from amniotic

fluid cells, blood (specifically white blood cells), chorionic villus cells
(placental cells), or any other body tissues.
Procedure
Several methods exist to prepare a karyotype whether plant, human, or any

animal. The procedure outlined below is for human beings using white blood
cells.
(a) Culturing. A few drops of white cells from a blood specimen are placed
into a flask containing nutrient growth medium (salts, nutrients,
antibiotics) and phytohemagglutinin -a stimulant for cells to divide. Cells
are grown for 2-3 days in an incubator at 370C. This is meant to
multiply the cells.
(b) Harvesting. This involves:

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(i) Adding colchicine to the culture to arrest mitosis at metaphase.

This is done for 2 hours.
(ii) Cell concentration by centrifugation, followed by addition of a
hypotonic solution such as potassium chloride. This is then
incubated for at least 20 minutes for the cells to swell and so
disperse the chromosomes.
(iii) Fixation. This is done to kill the cells while preserving their
contents. This is done using a fixative, e.g. formaldehyde or
formyl acetic acid, FAA (3:1 alcohol:acetic acid).
(c) Slide preparation. This involves:
(i) A specimen is then placed on a slide and well spread out;
(ii) Staining to ensure chromosomes visibility. This is done using any of

the several types of stains available on the market today. A freshly
prepared stain should be used. Also enough time should be allowed for
the chromosomes to take in the stain.
(d) Microscopic examination.

(i) A count of the number of chromosomes in a number of cells is then
made to obtain a model count.
(ii) Photography. This involves taking a picture of the slide, removing the
film, developing it and making a large printof it for a permanent record.
(e) Pasting and reporting. The individual chromosomes are cut from
photographs and pasted up for analysis and written report.
2.4 Genes
We9ve already defined a gene as a <unit of inheritance=. We shall here now

give a little more detail on it. Every gene has its alternative form called allele
that determines the corresponding characteristic. For instance, if gene T

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stands for tallness, then its allele t stands for shortness or dwarfness. Both
the gene and its allele occupy corresponding positions on a homologous pair
of chromosomes.
Usually every organism inherits half of its genes from each of its two
parents. The number of genes an organism has depends largely on its
phylogenetic complexity. For instance, a bacterium is less complex than a
human being. Logically, it has fewer genes than man. However, the number
of genes in an organism varies from a few hundreds to several thousands.
For instance, human cells carry between 25,000 to 100,000 genes dispersed
on the 23 chromosomes while a bacterial cell has about three hundred. In
humans only about 20,000 genes are protein-coding. The way in which any
one gene in a pair controls a particular trait may be the same (if
homozygous) or different (heterozygous) to its partner since genes exist in
different forms.
Summary
Cytology involves study of cells and their organelles while genetics is the
study of heredity. When the two subdisciplines were unified, it marked the
birth of understanding of heredity in the cell and organelles involved. The

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key organelle was the nucleus and within the nucleus were the
chromosomes.
Further Reading
1. The science of Genetics (5/e) by George W. Burns
2. Genetics (3/e) by Peter J. Russell
Assignment
1. From what you have learnt of genes and chromosomes, what relationship
do you make out between them?
2. Which is larger, a gene or a chromosome?
3. Give a characterization of chromosomes based on the centromere position
4. You have been presented a sample of amniotic fluid from a maternity
ward and asked to identify the sex (gender) of the fetus. Proceed.

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TOPIC THREE: DNA REPLICATION AND CELL DIVISIONS
Introduction
Both multicellular and unicellular organisms begin life as single cells. Some
multicellular organisms end up with billions of cells. How does this occur? It
occurs because the single cell divides repeatedly. In organisms which have a
sexual mode of reproduction, reproductive cells also arise through cell
divisions. The journey from one cell division to the next is called the cell
cycle. Alongside this division is also the division of the genetic material,
DNA. All resultant cells carry their share of this material. Whichever mode of
cell division takes place determines whether there will be similarity or
variation in the organisms that arise! The two kinds of cell division are
mitosis and meiosis and are associated with genetic constancy and variation,
respectively.
Topic Time
To a student learning genetics for the first time, it is important to recognize

that some aspects of it may sound difficult. To study this topic, it is required
that this topic be navigated through in a slow, elaborate and guided manner.
This requires at least six lecture hours.
No specific requirements are suggested. However, students will do to read

ahead of the lecturer always. This is possible now online of using relevant
text books. The first two practicals of this course are derived from this topic.
It is strongly recommended that students undertake them and submit their
write-ups promptly for review.

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Learning Outcomes
By the end of this topic, you should be able to:
i. Define a cell cycle and explain the events therein;
ii. Give reasons why cells divide;
iii. Name and explain briefly the two cellular division processes;
iv. List and describe the events in these division processes;
v. State the importance of each of these divisions;
vi. Differentiate the two divisions;
vii. demonstrate how both mitosis and meiosis feature in gametogenesis
Topic Content
3.1 Introduction to the Topic
In both topics 1 and 2 a mention was made of the cell, the nucleus and
chromosomes. It was stated that in terms of heredity, the nucleus of the cell
is the control center. In the nucleus too is found chromosomes which we
have exhaustively discussed their role and importance. In this lecture we
examine chromosomal behavior in cell division and how this ties with
distribution of genetic material to daughter cells in somatic as well as
gamete producing cells.
3.2 DNA Replication
A fundamental property of all growing cells in both prokaryotes and

eukaryotes is their ability to duplicate their genomic DNA and to pass along
identical copies of it to daughter cells.

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Enzymes called DNA polymerases copy the DNA. This copying (replication)
occurs semi-conservatively. This means that each copied DNA molecule
contains one strand derived from the parent molecule and one newly
synthesized strand.
3.3 The Cell Cycle
Many cells in the body alternate between states of division and no division.
The interval between divisions can vary from minutes in embryonic cells to
months or even years in some cells of adults. The sequence of events from
one division to another is called the cell cycle. A cell cycle comprises two
periods:
(a) Interphase, the period of cell growth, chromosome replication and
increased metabolic activity, and
(b) cell division (mitosis, meiosis) followed by cytokinesis and separation
of daughter cells.
Different eukaryotic cells grow and divide at quite different rates, e.g.
(a) yeast cells grow and double in number every two hours;
(b) most growing plant and animal cells double every 10 to 20 hours;
(c) other cells, e.g. nerve cells and striated muscle cells do not divide
at all. In these cells DNA does not replicate but RNA, protein and
membrane synthesis continues.
1. Interphase
During this period there is intensive metabolic activity, cell growth, and cell
differentiation. Usually divided into three gaps: G1, G2 and S (Fig. 3.1).

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Usually the cell is in these intervals for the following approximate durations:
G1 =30%, S = 45%, G2 = 20% and Mitosis = 5%. Therefore, a mammalian
cell with a generation time of 16 hours will be in G1 for 4.8 hrs; S for 7.2
hrs; G2 for 3.2 hrs, and mitosis for 0.8 hrs.
a. G1 period (also called pre-DNA synthesis): (i) daughter cells grow most
rapidly to attain full size; (ii) Genes active for cytoplasm, RNA and protein
production.
b. S (synthesis) period: During this interval, chromosomes replicate into two

chromatids and DNA in them replicated.
c. G2 period (post-DNA synthesis) period: gene activity previously reduced

at G1 is restored. There is continued cellular growth and synthesis of
other cellular macromolecules such as RNA, proteins and membranes.
This period is usu. shorter than G1. The cell then enters mitotic division.

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2. Cell division(s)
In most sexually reproducing organisms there are two different cell types:
the normal body or somatic cells and the gamete forming or germ cells. The
former undergo mitotic division while the latter undergo the meiosis.
3.4 Purpose of cell division
(a) Communication. Cells are restricted in size because of problems

associated with the diffusion of gases, transport of metabolites, with
communication and the specialization of function
(b) Development. If growth and differentiation of cells are to take place in

multicellular organisms, cells must divide.
(c) Perpetuation of life. It is the German physician Rudolf Virchow (1858)

who once said, <all cells come from cells=. Thus, cell division is the basis
for perpetuation of life.
(d) Renewal and repair. In your body, for example, millions of cells are
dividing every second just to take the place of those that die from normal
wear and tear or accidents.
(e) Creation of genetically equivalent daughter cells. In eukaryotes by

mitosis and in prokaryotes by binary fission.
3.5 Mitosis
Is a cellular event that results in the creation of two identical cells from an
original one. It is synonymous with asexual reproduction and genetic
constancy.
It is divided into four sub stages - prophase (contraction), metaphase

(orientation), anaphase (separation) and telophase (consolidation).

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(a) Prophase
i. The beginning of mitosis is signaled by the appearance of chromosomes

as thin threads inside the nucleus.
ii. As prophase progresses, the centrioles (found in animal cells and lower
plants) begin moving towards opposite poles of the cells.
iii. The nucleolus is dispersing and becoming less distinct.
iv. Chromosomes are now distinct due to continued coiling and shortening.
Each is evidently composed of two chromatids held at the centromere.
v. The centrioles reach the poles and from them radiate spindle fibers that
meet and join at the equator of the cell.
vi. The nuclear membrane begins to disperse and disappear, and the
nucleolus is not visible.
(b) Metaphase
(i) Stage is marked by chromosomes moving towards the equator of the

cell, where they become aligned in the equatorial plane.
(ii) This is the stage when chromosomes are most contracted and
therefore best viewed.
(c) Anaphase
(i) Characterized by complete duplication of the centromere to facilitate

separation of the sister chromatids.
(ii) The chromatids then separate and led by a centromere, each begins to
move towards the pole.

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(iii) At this stage the sister chromatids are called chromosomes. Thus each
cell has twice the chromosomes in either prophase or telophase cell.
(iv) Each set of chromosomes is nearing its pole, and cytokinesis begins,
as a cleavage furrow in animal cells and as a cell plate of pectin
material (from center laterally) in plants.
(d) Telophase
(i) Chromosomes regroup into a nuclear structure.
(ii) The chromosomes uncoil and become less distinct and the nucleolus
becomes visible again, i.e. reappears.
(iii) The spindle fibers gradually disappear (depolymerize).
(iv) The duplication of centrioles is completed.
(v) Cytokinesis started at anaphase is nearly completed.
Upon the completion of cytokinesis, DNA replication begins anew.
Significance of mitosis
i. It results in an exact division and distribution of chromosomal material.

This exactness of daughter cells allows for some cells to differentiate
and specialize. In fact, most plant tissues are totipotent, i.e. can give
rise to new organisms.
ii. Mitosis ensures genetic continuity and is associated with growth.
iii. In unicellular organisms, it results in a population whose members are

exact replicas of the ancestral cell. For multicellular organisms, it leads
to every cell of the body having the same hereditary material of that in
the zygote.

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3.6 Meiosis
The sequence of events during division of the nucleus in gamete formation

was first observed in 1885. The term 8meiosis9 was derived from the Greek
word <meioun= meaning 8to make less9. Thus, meiosis is a <process in which
two nuclear divisions take place but during this time the chromosomes divide
once=.
Meiosis occurs only in conjunction with the formation of gametes or spores.

It accounts for the variability among all sexually reproducing spp via the
shuffling of the parental genetic material during the formation of gametes.
1. Terminology
(a) Meiocyte (primary and secondary): are cells that undergo meiotic
division, the former M I, and the latter M II.
(b) Synapsis: the coming together of homologous chromosomes. It
leads to a tetrad (4 chromatids) or a bivalent (2 chromosomes)
(c) Dyad (Univalent): a partner of the bivalent that has separated at
anaphase - 1.
(d) Monad chromosome: each of the chromatids at anaphase –
2. Process
Like mitotic cell division, meiosis involves two separate processes:

(a) nuclear cell division (karyokinesis), and
(b) cytoplasmic division (cytokinesis).
Meiosis is divided into two parts, meiosis I (M1), and meiosis II (M2). M1
separates maternal from paternal centromeres, while M2 separates sister
chromatids. Prior to M1, the cell is in interphase.

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(1) Pre-meiotic interphase
Very similar to that of mitosis in that during the S period, the chromosomes
are reduplicated. However, compared with the mitotic S period, the meiotic
S period is longer.
1. Meiosis 1
Also called the reduction part. This is so because it is at this stage that the
chromosome number in the cell is halved. It is divided into prophase,
metaphase, anaphase, and telophase. All these stages bear the prefix–1 to
distinguish them from those of M2.
1) Prophase 1
Extremely long compared to mitotic prophase. This is because the

chromosomes have to perform specific functions at this period which they do
not do during mitotic prophase, such as pairing, chromatid exchange,
repulsion, and terminalization. Scientists have thus divided this stage into
five sub stages: leptotene (thin threads), zygotene (paired threads),
pachytene (thick threads), diplotene (double threads), and diakinesis
(moving apart).
(a) Leptotene
i) earliest stage of meiosis.
ii) interphase chromosomes resolve themselves by contraction into visible

strands which are long, slender and greatly entangled with one another.
(b) Zygotene
While the chromosomes are still very long and thin, each one makes contact
with its homologue (synapse), starting at the ends and then side by side.

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The structure for this pairing is a complex nucleoprotein organelle, the

synaptonemal complex.
(c) Pachytene
i) stage reached when pairing is complete;
ii) the paired strands constitute a bivalent;
iii) although contraction of chromosomes continues through zygotene, it is

by no means finished when pairing is complete, and therefore the bivalents
continue to shorten throughout the remainder of prophase 1.
(d) Diplotene
i) shortening (so obvious at pachytene) is accompanied by some relaxation

of the synapses with the result that the double nature of bivalents becomes
obvious (chromosome figure is called tetrad).
ii) each bivalent at this stage has the shape of a cross (X-shaped
configurations) or a number of loops with the homologues clearly separate
most of their length, but held together at one or more points, chiasmata
(one = chiasma).
iii) nucleolus begins to disappear, the centriole divides and daughter

centrioles move to opposite ends of the nucleus.
iv) diplotene is followed rapidly in most organisms by the remaining stages

of meiosis. However, in many animals the oocytes can remain in diplotene
for very long periods. For example, human female, oocytes in the ovary go
through9 meiosis up to diplotene by the 7th (28th week) month of fetal
development and then remain arrested in this stage for many years. At the
onset of puberty and until menopause, one oocyte per month is matured to
a haploid ovum. It is believed that with the progressing age of the primary

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oocyte, there is an increased chance that chromosomes will attach to each

other, causing non-division of chromosomes.
(e) diakinesis
i) final stage of prophase one and has a continuation of diplotene events.
ii) chromosomes reach maximum contraction (contraction).
iii) chiasmata move towards the ends of bivalents with some slipping off
completely (terminalization). The result is fewer chiasmata than at diplotene.
iv) nucleolus completely disintegrates, nucleolar membrane ruptures

allowing greater dispersal of the fully contracted bivalents.
v) spindle is formed.
2) Metaphase 1
This is the stage of independent assortment of chromosomes. Each bivalent

lines up independently at the metaphase plane and the orientation of the
maternal and paternal chromosomes is random.
3) Anaphase 1
As in mitosis, this is a period of movement towards the poles of the

chromosomes. The pairs of the bivalents finally tear apart at the
chiasmata and disjunct. Each is then called dyad (or a monovalent with
two chromatids).
It is at this stage when reduction division actually occurs.
4) Telophase 1
i. marked by the arrival of mono- or univalents at the poles.

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ii. chromosomes may persist for a time in a condensed state.
iii. spindle now disperses.
iv. nucleolus and nuclear membrane reappear, cytokinesis could or could not
occur.
v. the first division is virtually complete now.
vi. the length of telophase 1 is very variable from species to species

depending on how quickly the second division follows the first.
Interkinesis
This is the interval between M1 and M2. It may or may not be there.
2. Meiosis 2
Closely similar to normal mitotic division except that here there are two
nuclei dividing synchronously side by side.
1) Prophase 2
A short stage and the chromosomes already visible due to contraction pass
into metaphase 2.
2) Metaphase 2
The univalents orient themselves on two newly formed spindles, one for
each group at right angles to the metaphase 1 spindle.
3) Anaphase 2
It is at this stage that the centromeres finally divide, an act that heralds
anaphase. The associated chromatids, which have been visible, separate
since diplotene finally separate. Each now is a chromosome.

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Chromosomes are pulled towards the poles due to the shortening of the
spindle fibers.
4) Telophase 2
(i) Completes the sequence of events.
(ii) The haploid chromosomes have arrived at the poles.
(iii) There are now four groups of chromosomes each of which takes on the
appearance of interphase nucleus.
(iv) Chromosomes return to a long, thin state.
(v) The spindle apparatus disappears, nuclear membranes are reconstituted

and nucleoli reappear.
(vi) Cytokinesis occurs and separates each nucleus from each other.
The four nuclei produced generally become the nuclei of four separate cells,
tetrad. In male animal reproductive organs, these four cells are the
spermatozoa. In the female animal, only one of them is functional as an
egg cell (ovum), the other three become polar bodies. In higher plants,
meiotic products are microspores and megaspores in the male and female
parts of the flower respectively.
3. Genetic significance of meiosis
a. Conservation of the chromosome number from generation to generation

in sexually reproducing organisms.
b. creates genetic variability through:
(i) random orientation of maternal and paternal chromosomes on the

equator during metaphase-1. Consequently, both chromosomes may be

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combined in a gamete in varying numbers. The number of combinations

possible is 2N, where N is the haploid number. For instance, in humans, N
is 23. Therefore, the possible number of combinations is 223 or 8,388,608
distinct gametes that each individual can produce.
crossing over during prophase 1. This leads to an extremely large number

different kinds of progeny nuclei.
3.7 Mitosis versus meiosis
Mitosis Meiosis
(a) occurs in somatic cells (a) occurs in cells in the sexual cycle;
(b) one cell division = 2 daughter cells (b) two cell divs = 4 meiotic products
(c) completed in one nuclear division (c)after two nuclear divisions
Please add additional ones.
3.8 Gametogenesis
Usually the immediate end products of meiosis are not fully developed
gametes or spores. A period of maturation commonly follows meiosis. In
plants, one or more mitotic divisions are required to produce reproductive
spores, whereas in animals the meiotic products develop directly into
gametes through growth and/or differentiation. Gametogenesis is the
entire process of producing mature gametes or spores, of which meiotic
division is the most important part.
1. In Animals (as represented in mammals)
In the male it is called spermatogenesis, and in the female it is called

oogenesis (Fig. 3.2).

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spermatogonium oogonium
growth & differentiation
10 spermatocyte 10 oocyte
meiosis I
1st p.b.
20 spermatocyte 20 oocyte
meiosis II
2nd p.b.
spermatid ootid
differentiation
spermatozoan ovum
Figure 3.2. Diagrammatic summary of gametogenesis in animals
p.b. = polar body(ies)
(a) Spermatogenesis
It originates in the germinal epithelium of the seminiferous tubules of the

male gonads from diploid primordial cells. These cells undergo repeated

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mitotic divisions to form a population of spermatogonia. By growth, a

spermatogonium, may differentiate into a diploid primary spermatocyte
with the capacity to undergo meiosis. After M1, two secondary
spermatocytes are produced. By the end of M2, four spermatids result.
These then mature into spermatozoa.
(b) Oogenesis
It originates in the germinal epithelium of the female gonads (ovaries) in

diploid primordial cells called oogonia. By growth and storage of much
cytoplasm or yolk (to be used as food by the early embryo), an oogonium is
transformed into a diploid primary oocyte with the capacity to undergo
meiosis. The first meiotic division reduces the chromosome number by half
and also distributes vastly different amounts of cytoplasm to the two
products by a grossly unequal cytokinesis. The larger cell thus produced is
called a secondary oocyte and the smaller is a primary polar body. In some
cases the first polar body may undergo a 2nd meiotic division, producing two
secondary polar bodies. All polar bodies degenerate, however, and take no
part in fertilization. The 2nd meiotic division of the oocyte again involves an
unequal cytokinesis, producing a large yolky ootid and a second polar body.
By additional growth and differentiation, the ootid becomes a mature female
gamete called an ovum or egg cell.
2. In Plants (as represented in angiosperms)
Gametogenesis in the plant kingdom varies considerably between major

groups of plants. The process as described below is that typical of many
flowering plants.
(a) Microsporogenesis

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This is the process of gametogenesis in the male part of the flower (anther)
resulting in reproductive spores called pollen grains.
A diploid microspore mother cell (microsporocyte) in the anther divides by

meiosis, forming at M1 a pair of haploid cells and in M 2, a cluster of four
haploid microspores. Each of the four then undergoes a mitotic division of
the chromosomes without a cytoplasmic division (karyokinesis), producing a
cell containing two haploid nuclei. Pollen grains are usually shed at this
stage.
Upon germination of the pollen tube, one of these nuclei (or haploid set of
chromosomes) becomes a generative nucleus and divides again by mitosis
without cytokinesis to form two sperm nuclei. The other nucleus that does
not divide becomes the tube nucleus.
(b) Megasporogenesis
This is the process of gametogenesis in the female part of the flower

resulting in reproductive cells called embryo sacs. A diploid megaspore
mother cell (megasporocyte) in the ovary divides by meiosis, forming at
M1 a pair of haploid cells. In M2, a linear group of four haploid megaspores
is formed. Following meiosis, three of the megaspores degenerate. The
remainder undergoes three karyokineses producing a large cell with eight
nuclei (immature embryo sac). At one end of the sac there is an opening
in the integuments (micropyle) through which the pollen tube will
penetrate. Two nuclei of the sac orient themselves near the micropylar end
and. The third nucleus develops into an egg nucleus. Another group of
three nuclei moves to the opposite end of the sac and degenerate
(antipodals). The two remaining nuclei (polar nuclei) unite near the centre
of the sac, forming a single diploid fusion nucleus. The mature embryo sac
(megagametophyte) is now ready for fertilization.

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(c) Fertilization
When a pollen grain lands on a stigma it germinates into a pollen tube which
grows down he style, presumably under the direction of the tube nucleus.
The pollen tube enters the ovary and makes its way thru9 the micropyle of
the ovule into the embryo sac.
Both sperm nuclei are released into the embryo sac. Having served their
function, both the pollen tube and the tube nucleus degenerate. One sperm
nucleus fuses with the egg nucleus and results in the embryo. The other
sperm nucleus unites with the fusion nuclei to form a triploid (3n) nucleus,
which by subsequent divisions forms a starchy nutritive tissue called
endosperm. The outermost layer of endosperm cells is called aleurone. The
embryo becomes the familiar seed. Since two sperm nuclei are involved, this
process is termed double fertilization. Double fertilization introduces genetic
material from the pollen parent into both the endosperm and the embryo.
The influence of the genes from the pollen parent on the endosperm is called
xenia and may affect characters such as endosperm color (e.g. yellow seed
on a white -seeded ear of corn).
Summary
In this topic we have learned that cells divide and for various reasons. This is
By two fundamental processes – mitosis and meiosis. We examined the cell
cycle and learned the important activities occurring during interphase.
Preceding mitosis or meiosis, DNA synthesis occurs to double the amount of
DNA which subsequently is shared to daughter cells. In examining
gametogenesis, the aim was to understand the locations of mitosis and

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meiosis in this process.
Further Reading
(1) The Science of Genetics. George W. Burns (5/e)
(2) Genetics. Peter J. Russell (3/e)
Topic Activities
These questions are provided for your revision and need no submission.
1. What are the significances of mitosis and meiosis?
2. what are the differences between mitosis and meiosis?
3. Explain briefly the events of interphase in a cell cycle.
4. What do you think are the reasons why cells divide?

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TOPIC FOUR: QUALITATIVE GENETICS
Introduction
Considering the centrality of this topic in understanding and explaining the

phenomena of heredity, the wide content to be covered and importance of
Mendel9s work in laying the foundation of heredity, six lecture hours have
been allocated to it.
Topic Time
There are several aspects to be covered in this topic and thus six lecture
hours are allocated to it.
Topic Learning Requirements
Some aspects of this topic, e.g. Mendelian genetics, are usually introduced
at high school level. Therefore, it is advised you review what you learned

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then to prepare adequately to go through this topic without a lot of

challenges.
Learning Outcomes
i. Explain any of the early concepts advanced to explain heredity
ii. State why Mendel unlike his contemporaries was able to concisely
describe the patterns of heredity through his principles
iii. Demonstrate how Mendel developed either the law of segregation, or
that of independent assortment
iv. List those factors that can distort Mendel9s phenotypic ratios
v. Differentiate between testcrossing and backcrossing
vi. Show how homozygosity can be generated from heterozygosity
vii. Show how gene interactions result into different phenotype ratios.
viii. Demonstrate how crossing over values can be used to place genes in
linkage groups and place them along the chromosomes
ix. Explain the chromosome theory of inheritance and thus show a link
between genes and cytology
x. Solve any problem related to this topic
Topic Content
4.1 Introduction

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The existence of biological heredity is evident in the resemblance of offspring

to their parents. However, this resemblance is usually not total as some
differences certainly exist as well. One challenge the 8early people9 –
schooled and un schooled – faced was to account for this resemblance and
variation. Although they accepted that the sexual act was used by animals
and humans to produce children, they could not correctly explain the
mechanism of heredity. Thus, between 300 BC and early 19th century
several explanations (or Pre-Mendelian concepts) were advanced to account
for heredity. However, through several breeding experiments on garden pea
plants in the second half of the 19th century, Gregor Mendel opened our
understanding of heredity. Prior to Mendel9s studies, heredity was largely
imagined. However, through his experiments the laws subsequently
formulated, the foundation for the understanding of genetics was laid. When
Mendel9s work was rediscovered in 1900, it excited many of his
contemporaries in the field of heredity. They set out to apply his principles to
their own circumstances particularly the study organisms. However, they
were soon to realize that Mendel9s observations were not always in tandem
with their findings! Luckily, it was not Mendel9s results that were fake but
such results could arise due to extraneous factors such as multiple allelism,
gene interactions, and gene linkage. This topic therefore comprises five
sections of which Mendelian genetics is the key one.
4.2 Pre-Mendelian Concepts on Heredity
Heredity was explained or understood differently by the various groups of

people - thinkers, scientists and others prior to the era of Mendel. Some
explained it on the basis of the <Blending theory=, i.e. that the hereditary
material of the two parents mixed to form the offspring. However, as we
know it today, this theory could not explain certain phenomena of

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inheritance, for instance the fact that traits disappear in one generation and
reappear in another.
We can divide these concepts broadly into: vapors and fluids, pre-formation
and particulate inheritance.
(1) The vapors and fluids concept. This was advanced mostly by the early
Greek philosophers, notably Hippocrates, Pythagoras, and Aristotle.
(2) The pre-formation theory. This theory prevailed from the end of the
C17th to mid C18th. It was advanced when the sperm and egg, pollen and
ova had been discovered. Also, the light microscope had been invented and
the early microscopists claimed to have seen miniatures(homunculi) inside
human spermatozoa. Its key proponents were the Dutch naturalist Jan
Swammerdam (1637 - 1680) and a Swiss naturalist, Charles Bonnet.
(3) Epigenesis or the theory of particulate inheritance. This concept stated

that <an organism develops by the appearance of new structures and
functions, as opposed to preformation=. The German physician and naturalist
C. F. Wolff moved this theory in the C18th to disapprove the thinking of
Swammerdam and contemporaries. According to Wolff, sex cells do not have
miniatures of their adults. Together with Karl von Baer, they explained that
development arose as a result of differentiation and growth from the zygote.
Von Baer verified this through embryonic studies of chicken development

and stated that there is a gradual development from the gametes through9
the embryo to an adult.
Moreover, Maupertuis (1698 to 1759) had already proposed the existence of

minute <particles= and that these came from the parents. He9d also noted
that a particle from one parent could be dominant over that of the other
parent.

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Both Wolff and Maupertuis9 ideas were close to the truth as is known today!
By the end of the 18th century a number of important discoveries had been
made which fortunately set the stage for a precise material characterization
of the source of heredity. Many details of cell structures and cell division
were already known through the studies of several biologists. These
discoveries were vital in establishing a cellular link between parents and
offspring through the gametes.
(4) The germplasm theory
The close of this century also marked the disapproval of pangenesis by

Augustus Weismann (1834 to 1914). His studies led to his theory, the
germplasm theory. According to this theory, living bodies of organisms
comprise two kinds of tissues, the germplasm and the somatoplasm. The
latter is essential for the functioning of the organism but lacks the capacity
to enter into sexual reproduction. Any changes occurring to it are not passed
on in heredity. The germplasm on the other hand was set aside for
reproduction and any changes to it could lead to changed inheritance.
Support of this theory came from Francis Galton (1822 - 1911), who as well
showed that the blood does not transmit hereditary traits. It was from this
theory that Mendel perhaps hinged his studies on trait inheritance.
By the C20th, these ideas were already being put forward to explain a link
between one generation and another. This was given much weight with the
rediscovery of Mendel9s work in 1900.
4.3 MENDELIAN GENETICS
1. Mendel9s history
Gregory Mendel was born in 1822 in Austria to a farming family. He became

a monk at 21 years, later becoming a teacher and a scientist. Under the

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tutelage of various prominent scientists, he enhanced his skills at

experimentation and mathematics.
Through his brilliant experiments carried between 1856 and 968, he replaced
the <blending theory= with the <particulate inheritance theory=. He
discovered that inherited characters of an individual are distinct from one
another and are transmitted intact from parent to offspring. His experiments
were elegant and his conclusions constitute the foundation of the modern
science o genetics.
Mendel9s methods that he developed in the monastery garden are the ones
still used today and they form an integral part of genetic analysis. Mendel
realised that both the similarities and the differences among parents and
their offspring can be explained by a mechanical transmission.
Unfortunately, his ideas had little impact. Even when published, few read it
and worse still no one understood it.
2. Attributes to Mendel9s success
Mendel9s approach to understanding the phenomenon of heredity was unique

as compared to investigators before him. This was because of:
(a) Choice of organism - the garden pea, an annual crop that had well
defined characteristics, largely self-fertilizing and could be grown and
crossed easily.
(b) Purity of material – Mendel chose varieties of plants whose purity was
certain, and which he had bred consistently from generation to generation
under very stringent conditions.
(c) Choice of traits studied – Mendel picked those traits that could be
distinguished <with sharp and certain separation= from each other. For

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example, seed color (yellow vs green), seed shape (round vs wrinkled), etc.
In each experiment, he considered one trait at a time.
(d) Formulated a theory to explain his findings, i.e. proposed an explanation

for his results.
(e) Adopted a quantitative approach. During experimentation, he scored his

observations by generations with great accuracy, care and objectivity.
(f) Finally, and most important, he reached his conclusions with the aid of
rigorous mathematical analyses of large numbers of descendants of his
experimental crosses.
3. Mendel9s breeding experiments
(1) The monohybrid crosses
A total of seven single-character crosses were made and followed through to

the F2 generation (Table 4.1). All these characteristics showed clear
contrasts in expression.
Table 4.1. The seven single crosses Mendel studied and their results
F2 (numbers) F2 (%)
Unit Character* F1 Dom. Rec. Total Dom. Rec. ratio

Seed Round vs wrinkled All round 5474 1850 7,324 74.7 25.3 2.96:1
Yellow vs green All yellow 6022 2001 8,023 75.1 24.9 3.01:1
Flowers Red vs white All red 705 224 929 75.9 24.1 3.15:1
Axial vs terminal All axial 651 207 858 75.9 24.1 3.14:1
Pods Inflated vs pinched All inflated 882 299 1181 74.7 25.3 2.95:1
Green vs yellow All green 428 152 580 73.8 26.2 2.82:1
Stem Tall vs short All tall 787 277 1064 74.0 26.0 2.98:1
Total or average 14949 5010 19959 74.9 25.1
* = the dominant trait is always written first
Inheritance of seed shape

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As an illustration, let us examine the study on seed shape. Two varieties,

one with round seed and the other with wrinkled seed were crossed. The F1
progeny was selfed and the F2 seed harvested and categorized on the basis
of shape – round or wrinkled.
Mendel’s observations and explanations
(i) One trait of the two parents is expressed is expressed in F1. Such a trait
he called Dominant.
(ii) The other trait that does not show in F1 generation but was in the other
parent he called Recessive. This is the alternative of dominant and is
expressed only in homozygous individuals.
(iii) When the F1 were selfed, the recessive form would appear in ¼ of the
plants in the F2.
Because of this masking and reappearance of recessive traits, Mendel

deduced that each parental plant had two hereditary units for each trait,
but these units segregated at gametogenesis so that a gamete had only
one such unit.
Ratios
A 3:1 phenotype ratio and a 1:2:1 genotype ratio are typical of the
inheritance of characters controlled by a single gene with one allele
dominant to the other.
Conclusion
From the results of all the single crosses, Mendel concluded that the two
units for a trait do not blend in the parental plants but remain discrete and
segregate in the formation of pollen and ovules (gametes). This conclusion
came to be called Mendel9s 1st law or principle, i.e. the law of segregation.

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It states <the two factors for each trait do not blend in any way but remain
distinct throughout the life of the individual and segregate during gametes.=
(2) The dihybrid crosses
These crosses involve considering two traits simultaneously in the same

individual, flower color and flower location.
Inheritance of seed color and seed shape
Besides the single factor studies, Mendel also studied and analyzed the
inheritance pattern of traits observed two at a time. For instance, he crossed
a true breeding line of round, yellow seed with one that was green, wrinkled-
seeded. The F1 had round, yellow seed (a result that was in agreement with
the inference he had made in monohybrid crosses). These seed were grown
and the plants allowed to self-pollinate to give the F2 generation.
Q: What results did he envisage in F2?
A: He had in mind two possibilities:
(i) that the traits derived from one parent are transmitted together
to the progeny; and
(ii) that they are transmitted independently of each other.
His expectations:
1. If (i) above were true, there would be only two kinds of seed in F2
(round, yellow, and wrinkled green) in the ratio 3:1 according to the
law of segregation.
2. If (ii) above were true, however, there should be 4 kinds of seed:

round, yellow; round, wrinkled; wrinkled yellow and wrinkled green.

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His results: below fitted into the second expectation:
315 round, yellow,
101 wrinkled, yellow,
108 round, green, and
32 wrinkled, green.
These results fitted into the second expectation and reduce to the ratio
9:3:3:1 or a combination of two monohybrid ratios, i.e. (3:1)2.
illustration
Female Male
P1: phenotype round, yellow wrinkled, green
genotype RRYY rryy
gametes RY ry
F1: genotype RrYy
phenotype Round, yellow
gametes RY, Ry, rY, ry for both sexes
By selfing the F1, 16 gamete-combinations occur.
Genotypes and phenotypes of F2 plants from a dihybrid F1
Genotypes Geno. ratios Phenotypes Phtic ratio

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RRYY 1
RRYy 2
RrYY 2
RrYy 4 round, yellow 9
Rryy 1
Rryy 2 round, green 3
rrYY 1
rrYy 2 wrinkled, yellow 3
rryy 1 wrinkled, green 1
Interpretation
This ratio (i.e. 9:3:3:1) comes about because the two traits behave
independently, i.e. there is random segregation of the parental units. This
observation led Mendel to propose his 2nd law, the law of independent
assortment.
All examples involving two trait crosses illustrate the <Principle of

independent assortment= of alleles.
(3) Modifications of the Mendelian phenotypic ratios
After the rediscovery of Mendel9s work, many scientists went about applying
Mendel9s ideas to their own studies. However, some of them observed that
their results were sometimes not in tandem with Mendel9s findings. Were
their procedures wrong or did Mendel forge results? It was therefore vital to
ascertain the source of such discrepancies. Such observations are
collectively called modifications of Mendel9s phenotypic ratios.
Modifications of the 3:1 phenotypic ratio

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After Mendel, it was found that the 3:1 ratio could be modified. This was as
a result of: incomplete or partial dominance; co-dominance, lethal genes, or
multiple alleles.
(a) Incomplete dominance
In this situation, the heterozygote exhibits a phenotype intermediate

between the two homozygotes. For instance, in a cross of red-flowered and
white-flowered snapdragon varieties, the F1 gave pink flowers. When the
seed of the F1 was grown, the resulting F2 material comprised progeny of all
three colors - red, pink and white in the ratios 1:2:1. Thus, the 3:1 ratio had
been modified to 1:2:1!
(b) Co-dominance
This is a situation in which one pair of alleles is are both codominant, e.g.
the MN blood group in human beings.
(c) Lethal genes
These are genes that so lower viability that practically all individuals
expressing them die, e.g. the chlorophyll mutant gene in green plants.
Others are the vg gene in Drosophila for vestigial wings; many human
babies die shortly after birth because of lethal genes that prevent the normal
functioning of the lungs, heart or kidneys.
Modifications of the 9:3:3:1 ratio
If you performed a dihybrid cross according to the procedure of Mendel and

the F2 progeny did not give the characteristic 9:3:3:1 ratio, then it could be
due to incomplete dominance, epistasis, or linkage.
(a) Incomplete dominance

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If one or both genes do not show complete dominance, both the 9:3:3:1
ratio and number of phenotypic classes are bound to change.
Examples:
(i) A tomato variety with two traits - height (tall = T-; dwarf = tt) and stem
hairiness (hairless = h1h1; h1h2 = scattered, short hairs; h2h2 = very hairy
stems).
Crossing two varieties heterozygous at both loci will result in:
3/16 tall, hairless,
6/16 tall, scattered hairs,
3/16 tall, very hairy,
1/16 dwarf, hairless,
2/16 dwarf, scattered hairs,
1/16 dwarf, very hairy.
Note: Tall: dwarf gives a 3:1 ratio while the other trait shows gives a 1:2:1
ratio. Thus in the above cross there will be 2 x 3 phenotypic classes. In
complete dominance the number of phenotypic classes is 2n while in
incomplete dominance it is 3n.
(ii) Skin color and horning in cattle. A cross between red and white skinned
cattle gives roan skin and when these are intermated, we get a 1:2:1
segregation for red, roan and white respectively. This can be tested
alongside a trait such as horn production that shows complete dominance.
Hornless or polled is dominant to horned.
(b) Epistasis or interallelic gene interaction

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This occurs when one gene of two pairs modifies or masks the expression of
the other. It is manifested in numerous ways.
(c) Linkage
If the two genes lie close together on the same chromosome the four classes
of gamete are not produced at equal frequencies. This is the basis of gene
mapping studies and is examined in lecture five.
(4) Test crossing and Backcrossing
Testcrossing
This is meant to determine the genotype of the individual expressing the

dominant trait(s) but whose genotype(s) is unknown and in so doing confirm
both the laws of segregation and Independent assortment.
(a) In monohybrids
In a monohybrid testcross, the appearance of a single recessive phenotype

signifies that the individual under test is heterozygote, while the continued
appearance of only the dominant phenotype implies the individual being
tested is a homozygote (see illustrations below).
Homozygous dominant parent b. Heterozygous parent
Cross: P x p cross: P p x p
Pp Pp pp
(b) In dihybrids

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In the dihybrid, a double recessive is used as the tester. For example, if

there is need to know the genotype of a round, yellow plant, the tester will
have to be wrinkled, green. The phenotype round, yellow has 4 possible
genotypes - RRYy, RrYY, RRYY and RrYy. Each of them will give a different
ratio in the progeny on testcrossing.
Backcrossing
This is a form of breeding in which the F1 is mated back to either of the

parents or to genotypes identical to those of the parents. Where the mating
is to a recessive parent, the process is synonymous with test crossing!
(5) Presentation of results of crosses
Most often this is done using the checkerboard or Punnett square method.
This method is easily applicable when the number of gene combinations is
small. Other less-time consuming methods are: the forked-line, and the
mathematical (probability) methods.
The forked lined or branch diagram method
Procedure:
(i) put down the monohybrid ratio of one trait, and
(ii) connect this with forked lines to the monohybrid ratio of the
other trait 2.
Product of independent events, i.e. the mathematical approach
Probabilities can be used to predict the outcome of any type of crossings.

Take a plant of genotype Tt, the ovules and pollen produced have a 50 - 50
chance of carrying allele T or t. During fertilization the combination of ovules
and pollen is random. The result is a generation with the genotypic ratio of
¼ TT: ½ Tt: ¼ tt. From the point of view of the phenotype and given

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complete dominance, it can be concluded that the probability of an individual

showing dominance is ¾ and for the recessive is ¼.
With this understanding you can use this method to predict combinations
where two or more independent gene pairs are involved, thus: (i) Both
traits dominant = ¾ x ¾ = 9/16;
(ii) Trait 1 dominant and trait 2 recessive = ¾ x ¼ = 3/16;
(iii) Trait 1 recessive and trait 2 dominant = ¼ x ¾ = 3/16;
(iv) Both traits recessive = ¼ x ¼ = 1/16.
Therefore, if we are given the genotypes of the mating parents, we can

easily and very fast predict the likelihood of a certain genotype among the
progeny as follows: A cross is made between RrYytt and RrYyTt, determine
the probability of genotype RryyTt among the progeny.
Procedure:
(i) Calculate the probabilities of the genotypes separately for each gene pair,
and
(ii) then multiply the obtained probabilities.
Thus,
(i) the probability of an Rr individual in the Rr x Rr cross = ½;
(ii) the probability of a yy individual in the Yy x Yy cross = ¼; and
(iii) the probability of a Tt individual in the tt x Tt cross = ½.
Therefore, the probability of such an offspring from such parents = ½ x ¼ x

½ = 1/16.
(6) Simple formulae for solving genetic problems

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From all that you have learnt in this lecture so far, it is true that in crosses
involving two or more gene pairs, the determination of gametes, and
genotypic and phenotypic classes and ratios is quite complex. Formulae to
quickly work them out are presented in Table 4.2.
Table 4.2: Formulae for rapid determination of Mendelian values
Heterozygous Number of Different Smallest Kinds of phenotypes
gene pairs different genotypes perfect pop. Assuming
gametes in possible in F2 Full No epistasis &
F1 F2 dom. no dominance
1 (A,a) 2 (A or a) 3 (AA, ..) 4 2 3
2 4 9 16 4 9
n 2n 3n 4n 2n 3n
_________________________________________________________________________
(7) Reducing of heterozygosity by selfing
In the introduction [4.4.2 (2)] it was pointed out that Mendel was careful
about the purity of his varieties and this he achieved through selfing his
breeding material for several generations. In fact, selfing is done to obtain
homozygous individuals from a population that initially could heterozygous.
If the starting population is all of genotype Tt, then this population is 100%
heterozygous. After the first selfing (S1) of this population, the proportion of
the different genotypes will be as follows: ¼ TT., ½ Tt and ¼ tt. In the
second selfing (S2), homozygous Plants (TT and tt) = continue to breed true;
heterozygous (Tt) plants continue to segregate as in the S1. By S3, only ¼ of
the plants are heterozygous while ¾ are homozygous (both TT and tt).

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Thus for each selfing, the proportion of heterozygosity is reduced by ½. This

can be worked out mathematically as follows:
(i) In 1 selfing, the proportion of heterozygotes left is ½;
(ii) In 8n9 selfings, heterozygosity left = (1/2)n;
(iii) The amount of homozygosity generated = 1 – (½)n.
In plant breeding, the production of pure-line varieties is achieved by selfing

the plants for a number of generations (usu. 5 - 8 generations) until
heterozygosity is reduced to a very low level. By the 8th selfing, the
proportion of heterozygous plants in the population will be only 0.78%, i.e.
(½)8!
(8) Genetic symbols (Genetic nomenclature)
The genetic symbols used in genetic studies are two: The Mendelian and the
Drosophila symbolisms. In the Mendelian symbolism, the symbol used for a
dominant factor is written with an uppercase letter while the recessive factor
is symbolized with same letter but lowercase. For instance, in height, if tall is
dominant, its designated T while dwarf (or short) is written as t. In the case
of Drosophila symbolism, the symbol + indicates a wild-type (normal) allele
of a gene. A lowercase letter designates mutant alleles of a gene that are
recessive to the wild-type allele, and an uppercase letter is used for alleles
that are dominant to the wild-type allele. The letters are chosen on the basis
of the phenotype of the organism expressing the mutant allele. For instance,
a mutant fly with white eyes, the allele is designated as w and the normal as
w+ or +. The symbols are numbered sequentially when several genes control
the same trait in the organism. For instance, the trait male sterility in plants
has several genes, MS1, MS2, MS3, etc.

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4.4 The Chromosome theory of Inheritance
Two years after the rediscovery of Mendel9s work and as a follow-up to

studies made by cytologists on cellular organelles, two independent
investigators, W.S. Sutton (USA) and T. Boveri (Germany) made an exciting
observation about chromosomes and genes. This was that the transmission
of chromosomes from one generation to the next closely paralleled the
pattern of transmission of genes from one generation to the next. Thus they
hypothesized that <chromosomes were the location of genes=, a proposal
that came to be came to be known as the <Chromosome theory of
heredity=. This observation was further reinforced by subsequent
experiments by cytologists and geneticists.
4.5 MULTIPLE ALLELES
Some genes exist in more than two allelic forms. The grouping of all the
different possible alleles that may be present in a gene pair is called
multiple allelism. However, in diploid organisms where this condition may
exist, usually two alleles are expressed at any one time. Such genes may
not allow you to realize the Mendelian monohybrid phenotypic ratio of 3:1.
(1) Examples of traits with multiple alleles
(a) In Human beings
The first such a case demonstrated in man concerned the blood system, ABO
which had been discovered by Landsteiner and his students in the early
1900s. In 1925, he showed it to consist of a single gene (Isoagglutinnin, I)
with three alleles namely IA, IB and IO forming four different phenotypic
groups: A, B, AB and O. Alleles IA and IB are dominant over allele IO, but co-
dominant with each other. These three alleles give six different genotypes

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and which because of the recessivity of allele IO reduces to the four

phenotypes as above.
Being an important aspect of human life, blood grouping and its genetic
basis is crucial to blood transfusion and its usage in forensic work. Table 4.3
below shows compatibility and incompatibilities of donor and recipients9
blood groups.
Table 4.3: Matching recipient and donor blood.
Recipient Donor
Serum from Antibodies present Reaction when red blood cells from
blood groups in serum below are added to serum
O anti-A NA Ag Ag Ag
anti-B
A anti-B NA NA Ag Ag
B anti-A NA Ag NA Ag
AB - NA NA NA NA
_____________________________________________________________________
Key: NA = not agglutinated; Ag = agglutinated
The sera from each of the four blood groups are used as tester solutions.
When a drop of blood is mixed with the tester, the above reactions are
observed. If a drop of an O group individual is mixed with any of the four
antisera, no agglutination. But that of an A group individual is agglutinated
by antiserums O and B. Consequently, people of O group, because they do

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not have any antigens on their red cells are called universal donors and
those of AB group, since they do not have any antibodies are called
universal recipients.
Blood groups are man9s useful stamp of identity. Since they are simply
inherited it is possible to predict parental genotypes from the children9s
blood groups and vice versa.
Besides this blood system, 13 other systems exist, e.g. Rh, MNSs, etc. Of
these more than half are multi-allelic.
(b) Drosophila melanogaster.
The case of eye color gene best illustrates this condition in this organism.
Whereas normal flies have red eyes, Morgan noted a single fly with white
eyes in the population of flies he was breeding. This condition was recessive
to red eye. Morgan et al crossed an eosin-eyed male fly with a female with
white eyes. The result was all sons with white eyes and half the daughters
with white eyes and the other half with eosin eyes. The transmission of the
white eye color from mother to son, indicated that the gene is located in the
x chromosome. Breeding tests further showed that the genes of white and
eosin could not be recombined. Thus, Morgan postulated that the two genes
must be alleles to each other and must therefore reside in the same locus.
To date, 14 varieties of this gene have been identified and to categorize
them, a subscript is used as follows: red or wild (w+ or W) > coral (wco) >
blood (wbl) > eosin (we) > cherry (wch) > apricot (wa) > honey (wh) > buff
(wbf) > tinged (wt) > pearl (wp) > ivory (wi) > white (w).
(c) Rabbits
Fur or coat color in rabbits is controlled by a gene with more than two
alleles. This gene has four alleles and consequently gives four fur colors:

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black (wild), chinchilla, himalayan and white (albino). The black allele, C, is
dominant over all the other alleles; and the chinchilla (Cch) > himalayan (Ch)
and the white allele, c, is recessive to all others.
(d) Plants
Several multiple allelic systems also occur in plants. A good case is the male
sterility condition. As a result, these alleles are symbolized as Ms1, Ms2, etc.
4.6 INTERACTION OF GENES
Soon after the rediscovery of Mendel9s work, experimentation revealed that

phenotypic characters were often under the control of more than one gene
pair (Fig. 4.1). This observation is significant because it revealed for the first
time that genetic influence on the phenotype is much more sophiscated than
envisioned by Mendel.
Gene 1 Gene 2 Gene 3
Enzyme 1 Enzyme 2 Enzyme 3
S1 S2 S3 FP (phenotype)
Step a step b step c
Figure 4.1. An illustory biochemical pathway to show the interaction of genes

Bateson and Punnett performed a classical experiment that demonstrated
genetic interactions. They analyzed three comb types of chicken known to
exist at the time:
Chicken breed Phenotype
Wyandotte Rose comb
Brahmas Pea comb

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Leghorn Single comb
The Experiment:
Used pure lines (or breeds) of both parents
Parents: Rose comb x Pea comb
(Wyandotte) (Brahmas)
F1: All Walnut combs

(a new phenotype)
F2: 9 Walnut: 3 Rose: 3 Pea: 1 Single
Results:
The F1 differed from both parents and two new phenotypes not seen in the
parents appeared in the F2.
Q: How can this result be explained?
A: The first clue is the F2 ratio. We have seen this ratio when the F1 from a
dihybrid is selfed. This observation suggests two genes may control the
phenotype of the comb.
From a series of experiments, they determined the genotypes controlling the
various phenotypes as follows:
Phenotypes Genotypes Frequencies
Walnut R-P- 9/16
Rose R-pp 3/16
Pea rrP- 3/16
Single rrpp 1/16
Thus, the genotypes of the initial parents were: Rose (RRpp) and Pea (rrPP).
Therefore, genotyphically, the cross was:

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P gen: RRpp x rrPP
F1: RrPp
F2: (As above)
The interaction above revealed a 9:3:3:1 ratio. Other genetic interactions

were identified because the results of crossing two dihybrids produced a
modified Mendelian ratio. These include:
(1) Duplicate recessive epistasis or complementary gene interaction = 9:7;
(2) Recessive epistasis or modifying gene interaction = 9:3:4;
(3) Dominant epistasis or masking gene interaction = 12:3:1;
(4) Additive gene interaction = 9:6:1;
(5) Duplicate dominant epistasis = 15:1; and
(6) Dominant and recessive epistasis or inhibiting gene interaction = 13:3.
Worked out example

Two white-flowered strain of the sweet pea (Lathyrus odoratus) were
crossed, producing an F1 with only purple flowers. Random crossing among
the F1 produces 96 progeny plants, 53 exhibiting purple flowers and 43 white
flowers.
a) What phenotypic ratio is approximated by the F2?
b) What type of interaction is involved?
c) What were the probably genotypes of parental strains?

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Solution
a) Use the familiar 16s to determine phenotypic ratios:
(i) white
x/16 = 43/96
x =7.2 (i.e. approx. 7)
(ii) purple:
x/16 = 53/96
x = 8.8 (i.e. approx. 9)
The ratio is 9: 7
b) A ratio of 9:7 is characteristic of complementary (duplicate recessive)

gene interaction, that is the two genes help each other to produce a purple
pigment.
c) If aa or bb both could produce white flowers, then only the genotype A-B-
could produce purple. For two white parental strains (pure lines) to be able
to produce an all purple F1, they must be homozygous for different
dominant-recessive combinations. Thus:
P: aaBB x AAbb
white l white
l
AaBb
F1: purple
F2: Purple: 9/16 A_ B_

3/16 A-bb
= (9/16)
White: 3/16 aaB_

1/16 aabb
= (7/16)

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4.7 LINKAGE, CROSSING OVER AND GENETIC MAPS
1. Linkage
When individuals heterozygous with respect to two genes are crossed with a
double recessive (a testcross), if the genes are independently assorted at
meiosis, four types of offspring will be produced in equal numbers. Soon
after the rediscovery of Mendel9s work, scientists began to observe non-
compliant results. Among them were T.H. Morgan, Bateson and Punnett.
In all organisms, there are usually more genes than chromosomes. If
according to Sutton and Boveri, chromosomes are the locations of genes,
then a chromosome carries many genes. Genes on a chromosome are said
to be linked and would be expected to be inherited as a single group. Thus,
a chromosome can rightly be called a linkage group. The number of linkage
groups (l) in a species is equal to its autosomal number in the gamete plus
sex chromosomes. For example, D. m. has 5 linkage groups, i.e. l = 3 + x +
y.
The hypothesis that <linked genes tend to remain in their original
combination because of their residence in the same chromosome= was
advanced by T.H. Morgan in 1911. Further, he observed that <the degree or
strength of linkage depends upon the distance between the linked genes in
the chromosome=. His student, A. Sturtevant was to state that <the amount
of crossing over between genes can be used to determine the order and
distance between genes on a chromosome, producing a genetic map=.
In selfing the F1s of his dihybrid cross of round, yellow, he obtained 4
categories of seed: Round, yellow; round, green; wrinkled yellow; and
wrinkled, green. This was possible because the genes concerned assorted
independently. However, Mendel also had a second postulate that the F2
progeny could fall into two phenotypic classes resembling the parents. If the
results went according to the second possibility, this would have been a
premise for a possible linkage of the two genes (Table 4.3).

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Table 4.3 A comparison of segregation in independent assortment and in linkage
Progeny genotypes Case 1 (i.a.) Case 2 (linkage)
R-Y- 25% 50%
R-yy 25% 0%
RrY- 25% 0%
Rryy 25% 50%
(a) First linkage case

The first case of linkage was reported by B. Correns in 1900 in the plant
Stocks flowers. In his studies, he made a cross between two lines, one
purple flowers, hoary leaves and the other white flowers, smooth leaves. The
F1 all had purple flowers, hoary leaves. He selfed the F1 and expected
independent assortment among the F2. However, he observed only two
classes, purple flowers, hoary leaves; and white flowers, smooth leaves in
the ratio of 3:1. He concluded that <Assortment not independent=.
(b) First case of partial (incomplete) linkage

In 1908, W. Bateson, E.R. Saunders and R.C. Punnett also reported a case
of linkage but observed some new combinations among their progenies.
They crossed 2 varieties of Sweet peas, Lathyrus odoratus, one with blue
flowers, long pollen (BBLL) and the other with red flowers and round pollen
(bbll). The F1 had blue flowers and long pollen (BbLl). To reconfirm the law
of independent assortment, they testcrossed the F1, and found the results in
Table 4.4.
Table 4.4 A comparison of F1 x tester results from diverse sources
Offspring Expected frequencies Bateson et al.

Phte Gts Mendel Sutton observations

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Blue, long BBLl 25% (240) 50% 44% (296)
Blue, round Bbll 25% (80) 0% 6% (19)
Red, long bbLl 25% (80) 0% 6% (27)
Red, round bbll 25% (85) 50% 44% (85)

_____________________________________________________________________
They could not explain their results but noted it as an exception the law of
independent assortment of gene pairs. However, several years later an
explanation came from T.H. Morgan following related studies, that is, <the
two genes are on the same chromosome and are usually inherited together=.
The relatively small number of plants with blue and round pollen or red and
long pollen results from crossing over.
The distance between any two genes is measured by how frequently
crossing over takes place between them. Linkage is best analyzed in a
testcross situation.
2. Crossing Over (Genetic Recombination)
The term crossing-over was introduced in 1912 by Morgan and E. Cattell to
describe the process of chromosomal interchange by which new
combinations of linked genes (recombinants) arise.
The degree of crossing over (c.o.) between any two loci on a single
chromosome is proportionate to the distance between them. Thus, the
percentage of recombinant gametes varies, depending on which loci are
being considered. This correlation serves as the basis for the construction of
chromosome maps.
Crossing over does not occur very often but the frequency can be arrived at
by observing how often recombinant offspring appear. For instance, if red
petals always appeared on a tall plant and white petals on short ones, one
may speculate that the genes for red and tall are on the same chromosome
and very close together. However, if these traits appeared together in 80%

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of all the plants (progeny), it would suggest that although the two genes
were on the same chromosome, some crossing over took place between
these genes allowing tallness and white petals or shortness and red petals to
appear in 20% of the progeny. Since crossing over involves only 2 non-sister
chromatids, there were be new gamete combinations called recombinant or
cross over gametes.
Early last century, A.H. Sturtevant, working with Drosophila melanogaster
realised that the further apart two genes are on a chromosome, the greater
the chance that they will be separated by crossing over. He concluded that
the amount of crossing over between genes can be used to determine the
order and distance between genes on a chromosome, producing a genetic
map. Thus the distance between any 2 genes is measured by how frequently
crossing over takes place between them.
A measure of the ratio between the total of recombinant progeny over the
total progeny is called recombination frequency (rf, symbolized R).
In the data of Table 4.4, Mendelian testcrossing, gave R = 50/100 or 0.50.
This is the maximum recombination frequency that can be obtained between
any two genes, and genes that show this value are said to be unlinked.
Linked genes on the other hand have R less than 0.50, viz. 0.0 for Sutton
and Boveri (complete linkage), and 0.12 for Bateson and Punnett (partial
linkage).
(3) Gene Maps

A genetic map is a graphic representation of the relative positions and
distances of genes in each linkage group. Gene maps can be constructed in
organisms where inherited traits are known and crossing over studies are
possible, e.g. Drosophila melanogaster., corn, mice, bacteria, fungi, and
human beings. In constructing these maps, a 1% recombination frequency is
equivalent to 1map unit (mu). Map units are referred to as centimorgans

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(cM) in memory of Thomas Hunt Morgan who was the first geneticist to
explain linkage. The additivity of map distances allows the placement of
genes in their proper linear order.
Illustrations
(a) Genes A and B crossed over 10% of the time during meiosis, genes A
and C crossed only 1%, This means that genes A and B are located 10 map
units apart and A and C only 1 map unit apart. In constructing a genetic
map of genes A, B and C, therefore, genes A and C would be placed 1 map
unit apart and genes A and B 10 map units apart.
(b) A dominant gene, F, causes the feathers of hens to be frizzled. Another
gene, I, inhibits the formation of color on feathers, causing them to be
white. Hutts crossed coloured, frizzled females with white, normal leghorn
males and testcrossed the F1 (as below).
P: iF/iF (colored, frizzled) x If/If (white, normal)
F1: all iF/If (white, frizzled)
Testcrossed with if/if (colored, normal)
Results:
IF/If = colored, frizzled = 63
If/if = white, normal = 63 parental types (77.8%)
IF/if = white, frizzled = 18
If/if = colored, normal = 18 recombinant types (22.2%)
The fact that 22.2% of the offspring are recombinant type gives proof that
the genes in question lie a considerable distance (i.e. 22.2. map units) apart
on the chromosome.
(c) If the genotype Ab/aB produces 8% each of the crossover gametes AB
and ab, then the distance between A and B is estimated to be 16 map units.

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(d) If the map distance between B and C is 12 units, then 12% of the
gametes of genotype BC/bc should be c.o. types; i.e. 6% Bc and 6% bC.
The sequence of genes on a chromosome can be determined from either the
two-point or the three-point crossovers.
Two-point crossovers (Two factor linkage analysis)

Early studies on cross over percentages in Drosophila melanogaster
involving 2 linked genes revealed that the value obtained was often less
than the sum of c.o. values of genes lying between them.
Illustration
Black body color (b) and vestigial wings (vg) are mutant genes that show
linkage with a crossover of approximately 17% when only these two genes
are used in the test. There is another gene, cinnabar eye color (cn) that lies
in between them. Crossing overs between b and cn are approx. 9%, and
those between cn and vg are approx. 9.5%. This adds to 18.5% compared
to 17.0% earlier obtained. Why this discrepancy? The answer may be found
in double cross overs (dcos). In the original situation involving b and vg
genes, even if a dco occurred it would not be known since it would restore
the original condition. Thus, the two-factor cross has limited use in
determination of linkage and gene mapping studies.
To map the order of genes along a chromosome and to give more accurate
estimates of the distances between these genes at least three genes should
be studied in the same cross, as recommended by Alfred Sturtevant, a
student of Morgan in 1915.
Three-point crosses (double cross overs)

In order to detect dcos, a third gene locus between the outside markers
(e.g. cn above) must be used. Without the middle gene, dcos would appear
as parental types and lead to underestimation of the true map distances.

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If there is a certain probability that a cross over will form between the A and
C loci and another independent probability of a cross over forming between
the C and B loci, then the probability of a dco is the product of the two
independent probabilities. For instance,
If a c.o. between the A and C loci occurs in 20% of the tetrads, and between
C and B loci in 10% of the tetrads in an individual of the genotype
ACB/acb, then 2% (i.e. 0.2 x 0.1) of all the gametes are expected to be
of dco types, AcB and aCb.
Note: As the separation becomes large, the probability that two or more
recombination events will occur between also increases, but is always less
than for one recombinant event. For example, if the probability of a single
c.o. is 0.2, then the probability of two independent c.os is (0.2)2 = 0.2 x 0.2
= 0.04.
Worked example
The following three recessive mutants in D. m. were observed to be linked,
dp (dumpy – wings reduced to 2/3 of normal length), bl (black – black body
color), and cn (cinnabar – orange colored eyes). A mutant fly was crossed
with the normal and the F1 female mated to a recessive male, as below:
P: dp bl cn / dp bl cn x +++/+++
F1: dp bl cn / + + +
F1 x tester = dp bl cn / + + + x dp bl cn / dp bl cn

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Results:
Genotypes
(maternal chrom) Nos. dp-bl bl-cn dp-cn
+ + + 261 - - -
dp bl cn 277 - - -
+ bl cn 173 173 - 173
dp + + 182 182 - 182
+ + cn 44 - 44 44
dp bl + 51 - 51 51
+ bl + 5 5 5 -
Dp + cn 7 7 7 7
TOTALS 1,000 367 107 450
It is important to note the following:

(i) the number of recombinant individuals is less than the number of
parental combinations. Therefore, the number of the non-crossover
parental individuals is the highest.
(ii) the number of individuals in the dco class will be the smallest. This class
gives information concerning the linear arrangement of the genes along
the chromosome.
(iii) in the dco class, the centre marker (gene) is shifted.
(iv) to determine the map distance between the genes it is necessary to
quantify all the recombination events that have occurred.
Solution
To determine the map distance between dp and bl:
Use the sum value under the column dp-bl, i.e. 367, and express as a % of
all progeny, i.e. (367/1000) x 100% = 36.7 mu
To determine the map distance between bl and cn:
Use the sum value under the column bl-cn, i.e. 107 and express as a % of

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all progeny, i.e. (107/1000) x 100% = 10.7 mu

To determine the map distance between dp and cn:
Use the sum value under the column dp-cn, i.e. 450 and express as a %
of all progeny, i.e. (450/1000) x 100% = 45.0 mu.
The map:
We do not know the order of the genes, but the arrangement below is
one of several possibilities.
45.0 mu
dp bl cn
(36.7) (10.7)
The only thing we are certain of from the data is the position of cn, which is
to the right of bl since the distance from bl to cn is 10.7.
Note:
(i) the distance from dp to cn as calculated above is shorter than the sum of
the distances between dp and bl, and between bl and cn.
(ii) this discrepancy is no accident but is due to the occurrence of dcos
(double chiasma) between dp and cn.
(iii) the effect of a dco is to make genes appear closer on the chromosome
than they really are.
Thus, in constructing gene maps, one always takes the sum of short
distances as the best estimate for those genes, which are widely separated
on the chromosome.
To show that dco actually make genes appear closer, take the frequency
of the flies that resulted from dcos, 1.2%, double this figure since each fly
represents two crossover events. Add the resultant value (i.e. 2.4%) to the
45.0 obtained as the apparent rf between the two outside genes. The sum of
47.4 represents the distance in map units between dp and cn.
Coefficient of coincidence and Interference

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If we take that the relation of single to double crossovers as one of

probability, then the probability that a double crossover will occur between
dp and cn equal p(dp-bl) x p(bl-cn) = 36.7/100 x 10.7/100 = 0.367 x 0.107
= 0.039 = 3.9%. However, our data gives only 1.2% as double crossovers.
This suggests that there must be some kind of (positive) interference that
prevents some of the expected double crossovers from occurring. Adjacent
crossovers or chiasmata do not occur independently. A chiasma in a given
region suppresses a chiasma in the adjacent region. This has been called
chromosome interference (or chiasma or crossover interference).
Interference increases with decreasing distance between genes and
decreases with increasing distance.
A quantitative estimate of the correspondence of double recombinants
obtained to those expected is called coefficient of coincidence (S) and is
obtained thus:
S = (% observed dcos) / (%expected dcos) , or
(freq. of dcos observed) / (freq. of dcos expected)
Using the data above, S = (1.2%) / (3.9%) = 30.7%. This means that only
30.7% of all expected dcos actually occurred.
Coincidence is the complement of interference (I). S + I =1.0. Therefore,
when I is complete (i.e. = 1.0), no dcos will be observed and S = 0. When
we observe all the expected dcos, S = 1.0 and I = 0. Thus, I is said to
increase as the distance between loci decreases until a point when no dcos
are found. Under these conditions, S = 0. Conversely, above a certain
distance, the observed number of double recombinants equals the expected.
Then interference is non- existent and S = 1.0. Negative interference can
also occur, when S rises above 1.0.

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Activities
The following solved examples are given for you to test your understanding
of the topic.
(1) You are given the map distances: A-B = 10, and B-C = 20.
(a) Determine the number of dcos if there is no I;
(b) Suppose you observe 1.6% dcos in a testcross, determine S and
therefore I.
Solution
a. Dcos expected = 0.1 x 0.2 = 0.02 x 100 = 2.0.
b. S = 1.6/2.0 = 0.8. That is, you observe only 80% of the dcos that
were expected on the basis of combining independent probabilities
(map distances). I = 1.0 – 0.8 = 0.2. Thus, 20% of the expected dcos
did not form due to I.
(2) The results below are of a testcross involving mutant and wild type
Drosophila melanogaster flies.
Sc ec cv = 417
+ + + = 430
sc + + = 25
+ sc cv = 29
sc ec + = 44
+ + cv = 37
sc + cv =5
+ ec + =3
_____________________
Total = 990
(a) Determine the distances between the genes,
(b) Calculate S and I.
Solution
Due to absence of Mendelian ratios, we recognise linkage of the three gene
pairs, + + + and sc ec and cv. This cross has yielded two classes of
recombinant chromosomes, viz. single crossovers, and double crossovers.

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a. Distances
(i) sc-ec = 6.26 mu;
(ii) ec-cv = 8.99 mu;
(iii) sc-cv = 13.64 mu
This shows that genes sc and cv are the furthest apart and that ec must be
between them.
sc ec cv
(6.26) (8.99)
b. S = (8/990) / (0.62 x 0.90) x 100% = 0.014

I = 1.0 – 0.014 = 0.986.
(3) You know that the additivity of map distances allows placement of genes
in their proper linear order. Given the following information A-B = 12, B-C
= 7, and A-C = 5. Determine the correct gene order.
Solution
There are three possibilities, A in the middle, B in the middle and C in the
middle.
A case in which C is in the middle is the correct one.
Summary
The concept of heredity was understood clearly only after the rediscovery of
Mendel9s work. Prior to this, the Greek philosophers (thinkers), early
scientists understood and described heredity differently. Thus the work of
Mendel is critical in laying the modern science of genetics. Subsequent to
Mendel, exceptions to his principles arose and nearly cast doubt to his status
as the father of the modern science of genetics. However, scientists like
Punnett, Bateson and later Morgan and his students were to affirm that
Mendel9s observations were solid but other factors could distort his result.

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Most notable of these were partial dominance, codominance, multiple alleles,

gene interaction, and gene linkage. All this has been adequately covered in
this topic.
Further Reading
(1) Genetics (3/e) by Peter J. Russell
(2) The Science of Genetics (5/e) b George W. Burns
ASSIGNMENT
(1) In an individual of the genotype AaBbcc,
(a) what proportion of the gametes will carry genes Abc?
(b) what proportion of the gametes will be abc?
(c) what proportion of the gametes will carry allele a?
(d) what proportion of the gametes will carry allele c?
(2) A strange pea plant variant is found that has orange flowers. A self-cross
of this plant yields the following phenotypes: red flowers = 30; orange
flowers = 62; yellow flowers = 33. What mode of inheritance can you
infer for color in this pea plant variant?
(3) A variety of maize has a gene for seed color and a gene for height with
the following phenotypes: CC, Cc = purple seed, cc =white; TT = tall
stem, Tt = medium height, and Tt = dwarf height. If a dihybrid plant is
selfed, give the resulting proportions of genotypes and phenotypes
produced.
(4) A woman has ptosis (a rare dominant genetic disorder of the eyelids).
Her father had ptosis but her mother was normal. Her father9s mother
had normal eyelids. (a) what are the probable genotypes of the woman,

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her father and her mother? (b) what proportion of her children will be
expected to have ptosis if she marries a man with normal eyelids?
(5) Matings between black rats of identical genotypes produced offsprings

as follows: 14 cream-coloured, 47 black, and 19 albino.
a) What epistatic ratio is approximated by these results?

b) What type of epistasis is operative?
c) What are the genotypes of the parents and the off spring (use your own
symbols).
In maize, genes v, b, and l are linked. The data given below summarises the
results of a trihybrid testcross.
(6) Suppose that two pure breeding strains of Drosophila melanogaster each
of which expressed mutant phenotypes were crossed. The resulting female
heterozygotes were then testcrossed to males expressing the mutant
recessive phenotypes ebony (e), scarlet (s), and spineless (ss). Testcross
progeny were obtained as follows:
Testcross phenotypes/genotypes number
Wild type (+ + +) 67
ebony (e + +) 8
ebony, scarlet (e s +) 68
ebony, spineless (e + ss) 347
ebony, scarlet, spineless (e s ss) 78
scarlet (+ s +) 368
scarlet, spineless (+ s ss) 10
spineless (+ + ss) 54
Total = 1,000
a. Are the genes linked? Justify your answer.
b. Write the genes given in the correct order.
c. Write the genotypes of the flies involved in the parental cross and
testcross.
d. What is the map distance between the loci for ebony and scarlet?

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e. What is the map distance between the loci for ebony and spineless?
f. Calculate S.

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TOPIC FIVE: STATISTICAL APPLICATIONS IN GENETICS
Introduction
In the introductory topic to this module, we mentioned the importance of

statistics in genetic experimentation. For any study of genetics involving
either quantitative or Mendelian traits to be complete, statistical application
is integral. For example, the design, conduct, data collection and analysis,
interpretation and making of conclusions in any genetic experimentation
requires knowledge of statistics.
This topic is therefore to introduce you to the basic principles and the more
elementary techniques of statistical reasoning relevant to the geneticist.
Topic Time
Two lecture hours is allocated to this topic and is estimated adequate for a
comprehensive understanding of the content therein.
For a student to fully participate in this topic, a calculator is necessary as

well as rough work paper.
Learning Outcomes
i. List and apply statistical functions for both quantitative and qualitative
traits,
ii. Solve genetic problems using appropriate functions

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iii. Present data of quantitative traits in histograms and distribution

curves,
iv. Design, carry out simple genetic experiments and analyze data thereof
with appropriate functions.
Topic Content
5.1 Introduction
Broadly, statistics enables a researcher to learn about a population from

measurements of a subset (sample) of a population, as it may not be
practically possible to get information of every member of the population.
From your understanding that genetic events occur by chance, statistics
therefore assists you to determine that likelihood of occurrence of an event
such as a particular genotype from a combination of certain known parents.
5.2 Statistical Concepts
A population refers to the entire group for which a study is intended, e.g. all
F2 plants in a breeding experiment. A sample on the other hand refers to a
subset of individuals of this population. Since populations are rarely, if ever
studied, our analyses are usually confined to samples, i.e. representative
group of individuals that are considered representative of the entire
population. For a sample to give us reliable information about the
population, it must be large enough so that chance differences between the
sample and the population are not misleading. The sample must also be a
random subset of the population. The values obtained from a sample are
called statistics while their counterparts in the population are parameters.
Statistical functions are symbolized with English (or Arabic) letters while
Greek letters for the same functions are used for parameters, viz.:

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Function Symbol used in:
Sample Population
(i) Mean �㕥̅ µ
(ii) Size (No individuals) n Ν
(iii) Variance S2 σ2
(iv) Standard deviation S σ
5.3 Analyzing Qualitative and Quantitative Traits
Because traits inherited in a quantitative fashion cannot be described in the

same way as Mendelian ones, it is necessary to provide a way of evaluating
the inheritance of quantitative characters. This is largely done by use of
frequency diagrams (histograms) and distribution curves. On the other hand,
qualitative traits (Mendelian traits) require different approaches as their
values are based on counts rather than measures, and also that they fall into
distinct phenotypic classes, e.g. yellow versus green seed. Data of this
nature is first and foremost analyzed by obtaining its mean, then variance.
In the event that a comparison is desired based on a <null hypothesis=, then
a chi-square test can be performed. The following functions, easily
understood and applicable to the science of genetics are discussed:
1. Distribution curve
The basic concept of describing biological data for a quantitative trait is the
frequency distribution curve (also called normal distribution curve). To
develop a distribution curve, the phenotypic classes are usually grouped into
a frequency distribution. If a curve is drawn tracing the outline of the

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histogram, the curve assumes a shape that is characteristic of the frequency

distribution. The shape of the curve is described by its mean and variance.
Take a character such as height in humans, and measure heights (cm) of a

class of students. These measurements can be grouped in intervals of say 5
cm and plotted against numbers or frequencies. Representing each
measurement class as a bar, its height is given as proportional to number of
individuals in each class. The result is a representation called a frequency
distribution (or histogram) (Fig.1).
Fig.1. A histogram with 10-value class intervals
You will note that if the intervals are too small (short) they will each contain
so few observations that the histogram will appear very irregular. If they are
too large (long) only a very coarse presentation will be achieved. If the value
in each class is increased five-fold, the value will be 5 classes within each

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former class and the values will even out to a smooth distribution curve
(Figure 2).
Fig.2. A distribution curve superimposed on a histogram
The study of quantitative traits in a large population usually reveals that few
individuals possess the extreme phenotypes and that progressively more
individuals are found near the average value for that population (Fig.2.)
Variations in this curve
A normal distribution curve is symmetrical about the mean. Departures from

this include skewness, bimodal curve.
a. Skewness
Skewness is the degree of asymmetry or departure from symmetry, of a

distribution. If the frequency distribution curve of a distribution has a longer
<tail= to the right of the central maximum than to the left, the distribution is
said to be skewed to the right or have positive skewness. If the reverse is

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true, it is said to be skewed to the left or to have negative skewness. For

skewed distributions, the mean tends to lie on the same side of the mode as
the longer tail.
b. Bimodality
A bimodal curve is one with two means (or two mode). Its appearance may
indicate that the population being studied could be a mixture of 2 sub-
populations each with its own mode. Take 100 students. If they were
separated into girls and boys, the 2 groups would have different means.
Another trait whose expression could produce such a distribution is one with
both quantitative and qualitative inheritance, e.g. time of maturity in

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soybean.
2. Measures of the central tendency
A distribution of phenotypes can be summarized by both measures of central

tendency and measures of variation. Although the mode, median and mean
constitute measures of central tendency, the main one is the mean.
(1) Mode
In most phenotypes, the mode refers to the most frequent class. It is usually
a class near the middle of the distribution.
(2) Median
If a set of measurements is given and arranged in order of magnitude, then

the median is the middle value or the arithmetic mean of the two middle
values, viz. 5, 5, 7, 9, 11, 12, 15, 18. Median = ½ (9+11) = 10.
(3) Mean

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The average phenotypic value for a normally distributed trait is expressed as

the arithmetic mean (�㕥 or x-bar).
�㕥 = sum of all measurements, xi, divided by no. (n) of measurement in the

sample, i.e. �㕥 =Σxi /n.
Where Σ = summation (capital Greek letter sigma).
The mean provides a convenient way to quickly summarize the phenotypes

of a sample.
Often, when sample size (n) is large, grouping of data by classes becomes
necessary to give frequencies and the mid-class values as below.
Class range Class Value (xi) Freq. (fi) fixi
96-100 98 1 98
91-95 93 4 372
86-90 88 8 704
81-85 83 12 996
76-80 78 18 1404
71-75 73 25 1825
66-70 68 17 1156
61-65 63 10 630
Σfi = 95 Σfixi= 7185
If the data are grouped in this way, then,
Mean = �㕥 = Σfixi / N (orΣfi)
3. Measures of Variation
These include range, variance and standard deviation.

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(1) Range
This is the difference between the largest and the smallest values. How this
value is divided determines the appearance of the histogram. If the
distribution is normal, then the expected range of results can be calculated
(see standard deviation).
(2) Variance (s2)
The mean alone is uninformative in that a comparison of means of different

samples reflects nothing of their spread or variability. For instance, 3
students scored these marks in 3 papers: 75,75,75; 65,75,85; 50,75,100.
The mean for each is 75, but their distribution reflects quite different
spreads.
Variance measures the extent to which each measurement in the data differs
from the mean value. It is defined as <the average squared deviation of
the observations from the mean=.Variance in the population is defined
as:σ2= (xi- x )2 / N, while that of the sample is: S2= Σ (xi – x)2 / n. Variance
is determined as follows:
(i) Findthe deviation of each individual measurement from the
Mean,
(ii) Square each deviation,
(iii) Sum these values, and
(iv) Divide the sum by n-1
Illustration
A student of genetics counted the number of leaves in six F2 bean plants.

His values were 3, 5, 7, 4, 5, 6. Use this data to calculate variance and
standard deviation.

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Solution
Class value (Xi) Dev. from mean (Xi – �㕋) Squared devs ((xi – �㕥)2
3 (3-5) = -2 4
5 (5-5) = 0 0
7 (7-5) = 2 4
4 (4-5) = -1 1
5 (5-5) = 0 0
6 (6-5) = 1 1
Σxi = 30 Σ(xi – x)2 = 10
�㕥= 30 /6 = 5.0
Σ(xi – x)2 = 10
S2 = (xi- x)2 / 5 = 10/5 = 2.0
If the data are grouped by classes, e.g. Johanssen9s data on bean weights,
this formula becomes:
̅̅̅̅̅̅̅̅̅̅̅̅̅̅̅̅̅̅̅̅̅̅̅̅
S2 = ∑▒6Ā�㕖(�㕥�㕖 − �㕥)7
Variance has several interesting properties, e.g. being additive. For instance,
if we can determine how much a given variable contributes to the total
variance, we can subtract that amount of variance from the total and
whatever other causes the remainder. By analysis of variance (ANOVA), total
variance (Vp)can be fragmented into its components, viz.: VP = VG and VE
and due to G-E interaction (G.E). But variance is in squared units! This
limitation is however resolved by use of standard deviation (s).
(3) Standard deviation (S).

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It is the most useful measure of the amount of variability in a population. It

reflects the extent to which the mean represents the entire sample. For
instance, if all the individuals had exactly the same value, there would be no
variability and the mean would represent the sample perfectly. It is simply
the square root of the variance, i.e.
S (or s.d.) = (Variance )1/2 = √�㕣�㕎�㕟�㕖�㕎�㕛�㕐ÿ
= Σ(xi –�㕥 )2 / n- 1
Illustration:
In a demonstration plot, students of General genetics took heights of 200

randomly tagged F2 maize plants at tasseling. The data was grouped as
follows:
Class Value Freqs. Deviation Sq. dev.
(xi) (Ā�㕖) fixi (xi –�㕥̅ ) (xi – �㕥̅ )2 fi(xi-�㕥̅ )2
48 8 384 -4.75 22.56 180.50
50 32 1600 -2.75 7.56 242.00
52 75 3900 -0.75 0.56 42.19
54 52 2808 +1.25 1.56 81.25
56 28 1568 +3.25 10.56 295.75
58 5 290 +5.25 27.56 137.81
n = 200 Σfixi = 10,550 Σfi(xi - �㕥)2= 979.50
∑ Ā�㕖�㕥�㕖
�㕥̅ =
�㕛
�㕥 =Σfixi / n= 10550 / 200 = 52.75 cm

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s =Σfi(xi- x)2 / n-1 = 979.50 / 199 = 4.92 = 2.218 or 2.22
If the distribution is normal, then it is expected that:
(i) Approximately 2/3 (or 68%) of the measurements will lie within + or – 1
s.d. from the mean (i.e. m ± s.d);
(ii) 19/20 (or 95%) of the measurements will lie within 2 s.ds of the mean
(m ± 2s.d ).
In the data above, the mean = 52.75 cm, and s = 2.22. So, it is expected
that:
(i) 2/3 (or 68%) of the plants (i.e. 136) will be have heights between
52.75+ or – 2.22, i.e. 50.53 to 54.97 cm;
(ii) about 2 ½ of all plants in the sample will measure smaller than 48.31 cm
[i.e. 52.75 – (2 x 2.22)] and 2 ½ will measure larger than 57.19 cm [i.e.
52.75 + (2 x 2.22)].
Therefore, if an individual is chosen at random from a normally distributed

population the probability is 0.68 that it will belong to the part of the
population lying in the range �㕥± 1s. Similarly, there is a 0.95 probability that
the individual selected will lie within the limits �㕥± 2s or only a 0.05
probability that the randomly chosen individual will lie outside those limits.
5.4 Probability
Chance plays an important role in determining which genes shall be

transmitted from parent to offspring. The particular combination of genes
that determine your potentiality result from the chance assortment of genes
within the gametes that united to start your life. The laws (rules) of
probability therefore become useful in trying to guess the occurrence of any
particular combination of genes.

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In fact, genetic counselors use these laws in their routine work of advising
couples of the likelihood of a given genetic problem in their families.
Probability is a measure of the relative chance of the occurrence of an event

from among a set of alternatives. Take a pea plant of genotype Rr. The
probability that a gamete will carry the R allele = ½ or 0.5).
All probabilities lie between 0 and 1. A value of 1 indicates that the outcome
is certain to occur. An outcome is impossible if its P is 0. In a dice with 6
sides, 1 to 6, the P that it will fall 4 up = 1/6.
Outcomes that cannot occur together are said to be mutually exclusive and
the sum of their individual probabilities add to 1.
1. Laws of probability
These are: the product law, and the sum law. In illustrating these laws, it is
important we have before us the Mendelian dihybrid F2 results as below:
Round (R) Wrinkled (r)
Yellow (Y) 9/16 R-Y- 3/16 rrY-
Green (y) 3/16 R-yy 1/16 rryy
(1) The sum law (either – or rule)
This states that <the probability of either one or two mutually exclusive
events occurring is the sum of their individual probabilities=.

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If A and B are mutually exclusive outcomes, then the P that either of them
will occur is equal to the sum of their individual probabilities.
P [A or B] = P (A) + P (B)
In a plant RrYy, the probability that a gamete will be R and Y, written as

p(RY) = ½ x ½ = ¼. In a monohybrid cross, the F2 segregates in the ratio ¼
red: ½ pink : ¼ white. Therefore, the probability that any particular flower
will be red or pink = ¼ + ½ = ¾ . Similarly, the P of obtaining wrinkled seed
is P (r) = P (rY or ry) = P (rY)+ P (ry)= 3/16+ 1/16= ¼.
Solved problem
What is the probability of Mendel obtaining an F2 plant with (a) green and/or
wrinkled seeds, b) yellow and/or round seeds.
Solution
(a) p (green and/or wrinkled seed) = p(Ry) + p(ry) + p(rY) =3/16 + 3/16
+ 1/16 = 7/16
(b) p(Yellow and/or round seeds) = p(RY) + p(rY) + p(Ry) = 9/16 + 3/16 +
3/16 = 15/16
(2) The product law (the <and rule=)
This states that <the probability of two independent events occurring

simultaneously is the product of each of their respective probabilities=. Two
events are said to be independent if the occurrence of one does not
influence the occurrence of the other.
A coin has two sides, tail and head. The P for tail = P for head = ½. Suppose
you toss two coins simultaneously, what is the likelihood that both will land,
say heads? It is ½ x ½ = ¼.

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Consider the events, A and B again. The probability that they will both occur
together is the p(A) x p(B). Take a couple that hopes to have two children.
They contemplate on the fact that the two could be of one gender, e.g. all
girls. The probability of the first birth being a girl is ½. If the probability of
the second birth is also ½, then the probability that both will be girls is ½ x
½=¼.
3. Conditional probability
Again, let us consider two events A and B. Event A occurs with a certain
probability, but event B with a certain probability provided A has occurred,
i.e. p(A and B) = p(A) x p(B/A). p(A/B) is <the conditional p of B given A=.
Example
We know male and female births occur with equal probabilities, i.e. 0.5.
Color-blindness has a frequency of 0.08 and 0.0064 in males and females,
respectively. We may ask: a) what is the p that any birth will be a color-
blind female? b) what is the p that any birth will be a male with normal color
vision?
Solution
This is a conditional probability in that the birth must be female who is also
color-blind. Thus, p (Female and colorblind) =p( F) x p(C/F)= 0.5 x 0.0064
= 0.0032;
The probability that a birth will be male = P(M) = 0.5. The conditional
probability of color-blindness given a male birth = P(C/M) = 0.08. It follows,
therefore that the conditional probability of normal color vision given a male
birth = PN/M) = 1-P(C/M) 0.92. So, the P that any birth will be a male with
normal color vision = P (M and N) = P(M) x P(N/M) = 0.5 x 0.92 = 0.46.
Recall Mendel9s example yet again.

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The p of obtaining a plant with both round and yellow is p (R and Y)= p(R) x
p (Y/R)= ¾ x p (Y/R). But, what is the conditional p of Y given R? In this
case, Y and R are said to be statistically independent because the p of
obtaining Y is ¾ whether it occurs with R or r. When this is so, the
conditional p is equal to the unconditional or absolute p of obtaining yellow.
Thus, p(R and Y) = p(R) x p(Y) = ¾ x ¾ = 9/16.
In conclusion, the general form of the law of multiplication is p(A and B) =

p(A) x p(B/A). But if A and B are statistically independent, p(B/A) = p(B)
and p(A) = p(A) x p(B).
5.5 The use of Binomial Permutations to Predict Mendelian Outcomes
I am sure you now realize that probability is limited in application to single

crosses or event outcomes. Consequently, it may not enable you to predict
the chance that a particular combination of phenotypes would be the result
of a specified number of combinations (e.g. fertilizations). This kind of
situation may be faced by say human geneticists from couples curious to
know the likelihood of certain combinations or genetic disorders in their
offspring. For example, a couple in which one partner is normal (pp) and the
other polydactylous (Pp) may be anxious to know that one and not the other
child may be affected. In a single birth, the p for a normal child (N) equals
that for affected child (A) = ½. Suppose the couple wants two children and
wish to know the chances that neither, one, or both will be abnormal.
In this situation we consider the result of two fertilizations, each an

independent event with no relationship to, or influence upon, preceding or
succeeding fertilizations. The product rule of probability becomes applicable
here.

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If chance of a fertilization resulting in a N child = ½, then the probability of

2 such fertilizations is ½ x ½ =1/4. Similarly, the chance for two A child = ½
x ½ = ¼. However, there are 2 sequences of fertilization by which a child of
each type could result: (i) a N child followed by an A child or ½ x ½ = ¼. (ii)
An A child followed by a N child or ½ x ½ or ¼. Since both of these
sequences are possible, their separate Ps must be added together to
determine the total chance for obtaining, in 2 separate fertilizations, a
chance of each type, i.e. ¼ + ¼ = ½. Substitute a for N, and b for A.
2N children = a x a = a2
2A children = b x b = b2
The 2 combinations for a N and A would be ab + ba = 2ab.
The sum total of them all is the expansion of a binomial equation, (a + b) n.

In the above example, n = 2 and its expansion leads to the following terms:
a2 + 2ab + b2 = 1. In this equation, a and b represent the probabilities of
occurrence of two alternative events, normal and affected children, and the
number of terms being equal to n + 1.
The binomial equation is therefore a useful tool in solving genetic problems

for two reasons:
(i) It minimises the number of mathematical steps necessary to obtain the

answer, which lessens errors in calculations, and
(ii) Its expansion will represent all possibilities and probabilities of the
simultaneous occurrence of two independent events. The binomial
expansion, unlike probability includes all possible combinations of alternative
events.
The expansion of the binomial through any power to give the coefficients of
the terms can be facilitated by use of Pascal9s triangle.

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Solved examples:
1. A man with ptosis (born of a ptotic father and a normal mother)

marries a woman with normal eyelids. They consult a physician on the
likelihood of this trait in their children. If they plan to have 4 children, what
are the chances that three will be normal and one ptotic?
Solution
If the man is ptotic and yet his mother was normal, then his genotype is Pp.
The wife is normal, and so her genotype is pp.
Thus, the probability of a normal child is ½.
Applying the binomial equation (a+b)4 where 8a9 represents normal child,
and 8b9 the ptotic child, the second term of the expansion, i.e. 4a3b will be
used to solve the problem.
Substituted, 4a3b = 4(1/2)3 x ½) = 4/16 = ¼.
Therefore, there is a probability of 1 in 4 (or 0.25) that if they have 4

children, three will be normal and one ptotic.
2. Consider another couple, both ptotic and heterozygous. Suppose they

marry and have 4 children. What is the probability of them having
a. Three ptotic and one normal child?
b. Two ptotic and two normal children?
Solution
a. 12/256
b. 6a2b2 = 6 (1/4)2 x (3/4)2 = 0.211

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5.6 The Chi-Square (X2)
The results obtained from experiments are subject to random variation. In

genetics, perfect ratios such as 3:1 or 9 : 3 : 3 : 1 are rarely obtained.
Statistical analysis of results can indicate to what extent the departure from
the expected ratio is due to random variation alone or whether some other
factor is having an effect. This can be done using the chi-square test.
X2 = Σ [(observed values – expected values)2 ]/ Expected values, usu.

written as X2 = (O – E)2/ E. It is always calculated on original data, never on
percentages, frequencies, or proportions.
(a) Steps in determining the X2 values:
(i) Analyze the data obtained on the basis of the null hypothesis proposed. A
null hypothesis is one that assumes that there is no real difference between
the measured values and the predicted values. Alongside the O.Vs, insert
the values that were expected (E) on the basis of the hypothesis.
(ii) Determine the difference between O and E values, squaring the

difference in each case.
(iii) For each class, divide the squared value by its E value.
(iv) Sum all values obtained for all the classes to obtain the X2.
(v) The calculated value is then compared to the tabulated value based on
the X2 distribution (Table 6.1) with the appropriate degrees of freedom.
Recall the progeny counts Mendel obtained for his monohybrid crosses. The
ratios usually were never exact, i.e. were only approximate. Given this fact,
would Mendel9s results be valid? Stated differently, how much deviation from
the results he obtained can be accepted as likely to be due to purely chance?
This calls for the application of the X2 method.

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Example
In one of Mendel9s monohybrid crosses, 673 round peas and 117 wrinkled
peas were obtained. What is the probability of getting these results from a
Mendelian 3:1 distribution? The null hypothesis is that the observed data
does not deviate significantly from the hypothesized ratio.
Solution
Class Obs. Values Exp. values (3:1) (O-E) (O – E)2 (O – E)2 / E
Round 673 592.5 -80.5 6480.25 10.94
Wrinkled 117 197.5 +80.5 6480.25 32.81
X2 = 43.75
Though we have determined the X2 value as 43.75, we still cannot interpret

it as we need two involve two other functions, namely degrees of freedom,
and level of significance.
1. Degrees of freedom (df)
These are calculated as the number of classes whose value must be known
in order to determine the values of all classes (once we know the total).
Suppose we have three observations: x = 5; x1 – x = -3 and x2 –x = -1. X3
can easily be found given this information because S (xi – x) = 0. So x3 – x
= 4 giving x3 = 9.
As you realise, although the sample contains three observations only two are
independent. Once these are known, the third can be fixed. Thus, Degrees of
freedom are one less than the number of independent classes measured, i.e.
n – 1.

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Table 6.1 The chi-square distribution with probability P
Probability
df 0.99 0.95 0.90 0.75 0.50 0.25 0.10 0.05 0.01
1 0.000 0.000 0.016 0.102 0.455 1.320 2.710 3.840 6.630
2 0.020 0.103 0.211 0.575 1.386 2.770 4.600 5.990 9.210
3 0.115 0.352 0.584 1.213 2.366 4.110 6.250 7.810 11.340
4 0.297 0.711 1.064 1.923 3.357 5.380 7.780 9.490 13.280
5 0.554 1.145 1.610 2.675 4.351 6.630 9.240 11.070 15.090
_________________________________________________________________________
Using the chi-square (X2) probability table
(i) The probability of getting a result by chance is looked in the

table above.
(ii) Looking along the row for the appropriate df, find the value
greater and smaller than that calculated, and read the
probability at the top.
(iii) Large values of X2 have low probabilities of occurring by chance,
and indicate a large deviation from expectation.
2. Level of significance
(i) The level of significance is the p below which we assume the data
observed does not fit expectations, and so reject the null hypothesis. This is
conventionally 0.05 (1/20).

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(ii) When there is a p of less than 0.05 (5%) of getting a particular set of
data by chance if the null hypothesis is true, then it is conventional to reject
the hypothesis as probably being false and say the data does not fit. This
decision will be correct 19 times out of 20. One time in 20 a real fit will be
rejected.
The X2 calculated above is 43.75 and df is 1. This value is very large and its
p is well below the 0.05 level. Hence the data does not agree with the
expectation and so the hypothesis is rejected.
Topic Summary
In all sub-disciplines of genetics, statistical analyses is applied. This is to

assist in the interpretation of data arising from experimentation. Various
statistical functions are used in describing both qualitative and quantitative
traits. Such functions include the mean and variance, standard deviation and
probability. If there is a desire to confirm the outcome of an experiment
against a set hypothesis, then the chi-square test becomes handy.
Further Reading
1) The Science of Genetics. George W. Burns (5/e)
2) Genetics. Peter J. Russell (3/e)
Activities
Go through these worked out examples to help you understand how to

handle problems of this topic.
1. A couple hopes to have 8 children. What is the probability of them having:

(a) all as girls; (b) all as boys); (c) either boys or girls?
Answer: The probability of:
(a) 8 girls = (1/2)8 = 1/256;

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(b) Eight boys = (1/2)8 = 1/256;
(c) Either 8 boys or 8 girls = 1/256 + 1/256 = 2/256 = 1/128. This is

because the events are mutually exclusive.
2. Phenylketonuria (PKU) is an inborn error of metabolism determined by a

recessive allele. If two heterozygotes marry and have a family of two
children, what is the probability that: (a)neither child, (b)one child but not
the other, and (c)both the 1st and 2nd children,
Will be affected by PKU?
Solution
Since both parents are heterozygous for the recessive allele, a

3:1segregation is expected for unaffected and affected child respectively.
Therefore, P of any child being affected = ¼, and P for any child being
unaffected = ¾.
Thus,
(a) P that neither child is affected = P (1u and 2u) = P (1u) x (2u) = ¾ x ¾ =
9/16.
(b) The P that one child, but not the other child will be affected = 3/8. This
outcome can arise in two ways depending on whether the 1st or 2nd child is
affected. Thus we require P (1a and 2u)+ P (1u and 2a)= 3/16+ 3/16 =
6/16= 3/8.
(c) The P that both the 1st and 2nd children will be affected. By the law of
multiplication and because the two events are statistically independent, P(1a
and 2a) = P (1a) x P (2a) = ¼ x ¼ = 1/16.

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Assignment
1. What is the probability that a family of 6 children from parents both

heterozygous for a recessive gene for feeblemindedness will consist of 2
normal girls, 1 normal boy, 1 feebleminded girl, and 2 feebleminded boys?
2. suppose we cross red and white pea plants, self the F1 and get F2 of 63
red, 37 white. (a) Is 63:37 a good fit for a 3:1 ratio allowing chance error in
sampling? (b) Test this data also against a 9:7 ratio. What is your verdict?
3. In another of Mendel9s experiments, he recorded 787 tall and 277 short

plants. Test these results for a fit into the 3:1 ratio.

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TOPIC SIX: QUANTITATIVE GENETICS
Introduction
So far we have only considered phenotypic traits (characters), which fall into
clearly distinguishable categories. Pea seed was round or wrinkled, you are
blood group O or blood group A, male or female. Such characteristics are
said to show discrete (individually distinct), or discontinuous or qualitative
variation. However, such characters only form a small fraction of naturally
occurring variation.
Consider now the heights of your friends. Do they fall into distinct
categories? Can you classify one group as short or tall? Variation of this sort,
without obvious categories is called continuous variation and traits exhibiting
it, e.g. height or weight in humans, are called quantitative or metric traits
because their study depends on measurement rather than on counting.
The branch of genetics concerned with analyzing continuous variation is

called quantitative genetics. This branch of genetics is important because
most characters of interest to animal and plant breeders, e.g. milk
production in animals, growth rate, yield, and so on in plants are
quantitative characters. Other characters that are quantitative in nature
include stature, weight, egg number, in human beings eye color and skin
color.
Topic Time
This topic should be adequately and successfully covered in three lecture

hours.

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A good understanding of topic four is essential in understanding this topic.

Therefore, regularly make reference to that topic as well as referring to
relevant topic relevant text books.
Topic Learning Outcomes
After you have successfully completed this topic, you should be able to do
the following:
i. Recognize and name characters showing continuous and discontinuous

variations;
ii. Give differences between qualitative and quantitative characters,
iii. Explain the model for quantitative inheritance of characters as

developed by Nilsson-Ehle.
iv. Solve problems pertaining to this topic.
Topic Content
6.1 A comparison of Qualitative and Quantitative Characters
Mendel while studying inheritance of flower color in beans noticed that it did
not fall into distinct classes as was in the garden peas (Figure 6.1)
P Purple x White

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F1 Purple
F2 Purple White
numerous color shades
Fig. 6.1 Mendel9s study of flower color in beans
He was unable to explain these results satisfactorily but recognized that they
were inconsistent with his data from peas (Fig. 6.1). Major differences
therefore emerged between qualitative and quantitative characters (Table
6.1 and Fig.6.2).
Table 6.1 A comparison of qualitative and quantitative characters
Qualitative Quantitative
(1) Discontinuous variation giving (1) Continuous variation giving a

discrete phenotypic classes; range of phenotypes;
(2) Effect of single genes can (2) Effect of individual polygenes
be observed; cannot be observed. Effect is
additive;
(3) The environment has a small (3) The environment has a large effect
on the phenotype; effect on the phenotype;
(4) Mechanisms of inheritance (4) mechanisms of inheritance

investigated by counting investigated using statistical
comparing ratios in the methods;
Offspring;
_____________________________________________________________

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Fig. 6.2 Inheritance in quantitative and qualitative traits
In the case of a quantitative trait, note the following:
(a) that variation in the F2 is both genetic and environmental;
(b) the intermediate character of the F1;
(c) that the F2 shows more variability than the F1 with a mean close to
that of the F1 but with the extreme phenotypes extending well beyond
the F1 extremes.

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(d) In F2 discrete classes are given for Mendel9s character and metric
classes for Nilsson-Ehle9s.
6.2 Assumptions in Quantitative Inheritance

(a) There is no dominance, rather there exist pairs of contributing and
non-contributing alleles;
(b) Each contributing allele in the series produces an equal effect;
(c) Effects of each contributing allele are cumulative or additive;
(d) There is no epistasis among genes at different loci;
(e) There is no linkage among the polygenes involved and as such they
assort independently;
(f) Environmental effects are absent or are so controlled that they may be
ignored;
6.3 A Model for Polygenic Inheritance
The issue of whether continuous variation could be accounted for in

Mendelian terms caused considerable controversy in the early 1900s. For
instance, Hugo de Vries (a Mendelian supporter) regarded the existence of
this kind of variation as a criterion of non-heritability. Francis Galton and
associate Karl Pearson (1889) studied several continuous traits in humans
such as height, weight and mental traits and demonstrated that these traits
in the parents and their offspring were not only statistically associated but
are heritable are heritable because taller individuals produce taller children
on the average. Reconciliation of the above views came separately from
Johanssen (1903) and George U. Yule (1906). They both affirmed that
continuous variation was heritable. Further support came from the work of a
Swedish geneticist, H. Nilsson-Ehle (1908) with wheat and the American
geneticists Ralph Emmerson and Edward East (1913) with corn.

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Andalusian fowl are a variety of chicken that comes in three different colors:
black, white and blue (or grey). A cross between black and white produce
blue and when these are intermated the F2 comprises both black, blue and
white in the ratio of 1:2:1. If the genotype for black is BB and for white is
WW, then blue is Bw. Thus the F2 has BB, BW, and WW genotypes in the
ratio of 1:2:1. Assuming that the allele B codes for the production of 1 unit
of feather pigment, the units of feather pigment are BB (2), BW (1), and
WW (0). Thus the effects of the alleles are additive. Each allele makes a
specific measurable contribution to the phenotype. Such results if plotted on
a histogram will give a kind of bell shape. However, this is from one locus
and two alleles. If the number increases, a bell shaped curve will arise.
J.G Koelreuter undertook a similar study with two species of tobacco in the
late 19th century. The F1 were intermediate and the F2 had individuals with
variation from the dwarf to the tallest with majority intermediate. However,
it was Nilsson-Ehle9s work that laid the cornerstone for the understanding of
quantitative inheritance. His explanation came to be called the <hypothesis
for quantitative inheritance=. His studies centred on wheat kernel
heritability. Below (Fig. 6.3) is an illustration of one of his experiments
P Red-kernelled x White-kernelled
F1 Purple (suspected independent assortment)
F2 had 5 different classes of color in the ratio 1:4:6:4:1
______________________________________________________________
Fig. 6.3 The inheritance of kernel color in wheat

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Observing that 1/16 of the F2 was as extreme in color as either of the

parents he theorized that:
(i) two pairs of genes control kernel color,

(ii) each gene has two alleles, one for color while its counterpart
does not produce any color,
Thus, he explained his results as follows:
(i) 1/16 of the seed have 4 pigment producing alleles and hence
Red;
(ii) 4/16 have three alleles for pigmentation and are reddish;
(iii) 6/16 have 2 genes for pigmentation and are purple (like F1);
(iv) 4/16 have only one gene for pigmentation and are crimson, and
(v) 1/16 have no gene for pigmentation and are white.
Illustration
P phenotype red x white
genotype R1 R1 R2 R2 r1r1r2r2
F1 genotype R1r1R2r2
phenotype purple
F1 x F 1
gametes R1R2, R1r2, r1R2, r1r2
F2 Results No. color
Genotypes Gtic ratio phtes alleles Phtic ratio
R1 R1 R2 R2 1 red 4 1
R1R1R2r2 2
R1r1R2R2 2 reddish 3 4

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R1r1R2r2 4
R1R1r2r2 1
r1r1R2R2 1 purple 2 6
R1r1r2r2 2
r1r1R2r2 2 crimson 1 4
r1r1r2r2 1 white 0 1
__________________________________________________________
Thus, the inheritance of kernel color in wheat was confirmed an example of a
quantitative trait.
In another experiment, Nilsson-Ehle crossed a dark-red kernelled variety of

wheat with a white one. The F1 were red. When the F1 seed was grown and
plants allowed to self-pollinate, he found 1/64 of the F2 to be like either
parent. Seven phenotypic classes in the ratio of 1:6:15:20:15:6:1 were
identified. Thus, the dark red variety carried three gene pairs (i.e. had 6
contributing alleles) for kernel color.
These results imply seed color is not affected by environment (i.e., the F2
occurring in distinct phenotypic classes). This of course is not true.
Quantitative traits are very much affected by environment causing these
classes to merge into a smooth distribution.
Like in Mendelian genetics, there is an increase in both phenotypic and

genotypic classes with increasing gene pairs. However, the proportion of
individuals like either parent decreases with increasing gene pairs. For
example, with one, two and three gene pairs, ¼, 1/16, and 1/64 of the F2s
respectively will be like either parent.
Thus, quantitative variation can be explained by assuming that it results

from the interaction of a large number of genes (polygenes) each of which
has a small but additive effect on the character in question.

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6.4 Determining the Number of Loci for a Quantitative Trait
Owing to environmental effects, quantitative traits do not usually fall into

classes that precisely reflect the genotype. This often makes it impossible to
ascertain the number of genes affecting a quantitative trait by the kind of
analysis performed by Nilsson-Ehle. The number of genes involved can
however be estimated from the proportion of F2 individuals falling in the
parental classes (Table 6.2).
Table 6.2 Formulae for obtaining individual proportions for polygenes

Pairs of Segr. Fract of F2 No. F2 gtic No. F2 phtic F2 phtic ratio =
polygenes alleles as parents classes classes coeff. of:+
1 2 ¼ 3 3 (a + b) 2
2 4 1/16 9 5 (a + b) 4
3 6 1/64 27 7 (a + b)6
n 2n (¼)n 3n 2n + 1 (a + b) 2n
______________________________________________________________________
+
: Give the terms in the binomial expansion
So, if you wished to get the number of polygenes for a trait you use the
fraction (¼)n. However, to determine the number of alleles involved you
may use the fraction (½)n. The contribution of one allele to trait is the range
between the two parents divided by the number of alleles involved.
Worked out Examples
Below are some worked out examples to aid you in further understanding
the topic. Study them and look for related examples to further your
understanding of quantitative genetics.

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Example 1.
Two pumpkin varieties (var. 1 = 5 lb fruits; var.2 = 21 lb fruits) were

crossed. The F1 had 13 lb fruits. The F2 fruits varied as follows: 3/750 had 5
lb fruits and another 3/750 had 21 lb fruits. Calculate:
a. the number of contributing alleles; and
b. the contribution of each allele.
Solution:
(a) Contributing alleles
(i) Simply the fraction 3/750 to 1/250;
(ii) From Table 7.2, we know that in a trait governed by a single gene pair,
¼ of the F2 individuals are like either parent.
Let the number of gene pairs involved = n.
In n gene pairs, (¼)n individuals will be like either parent.
Thus, (¼)n = 1/250. This fraction is close to 1/256 for 4 gene pairs.
Alternatively
(¼)n = 1/250
n log 4 = log 250
n = log 250/log 4
OR: n = 4 √250
= ¼ log 250 = ¼ (2.3979) = 0.5995
Antilog 0.5995 = 3.977 about 4 gene pairs (or 8 alleles)
(b) Contribution by each allele

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The variety of 21-lb fruits has all the 8 contributing alleles, while the 5-lb
fruits has no contributing alleles.
The difference in fruit weight for the two varieties = 21 - 5 = 16 lbs.
Therefore, each contributing allele gives 16/8 = 2 lbs.
The 5 lbs is called base weight, and suggests that of all the polygenes that
may be involved in fruit weight the two parents were homozygous for all but
the four pairs determined by these calculations.
Example 2.
Three independently segregating genes (A,B,C), each with 2 alleles,

determine height in a plant. Each capital- letter allele adds 2cm to a base
height of 2cm.
(a) What are the heights expected in the F1 progeny of a cross between
homozygous, strains AABBCC (14cm) x aabbcc (2cm)? Answer = 8 cm
b. What is the distribution of heights (frequency and phenotype)

expected in an F1 x F1 cross? Answer: 1 (2cm): 6 (4cm): 15 (6cm): 20
(8cm): 15 (10cm): 6 (12cm): 1 (14cm).
c. What proportion of F2 plants will have heights equal to the heights of

the original 2 parental strains, AABBCC and aabbcc? Answer: Proportion
of F2 of AABBCC is (1/4)3; of F2 of aabbcc is (1/4)3. Proportion of F2
with heights equal to one or the other is (1.4)3 + (1/4)3 = 2/264.
d. What proportion of the F2 will breed true for height shown by the F1?
Answer: none

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6.6 Mechanisms of Polygenic Inheritance
There is Mendelian segregation of each gene involved in polygenic

inheritance. Because many genes control the same trait, the familiar
phenotypic ratios are modified, viz.: 9:3:3:1 to 1:4:6:4:1 and
27:9:9:9:3:3:3:1 to 1:6:15:20:15:6:1.
6.7 Transgressive Inheritance
Normally the range of variation in the F2 progeny remains well within the
limits defined by the parents. But sometimes the extremes of F2 exceed
those of the parents. Such a situation is called transgressive variation.
Punnett and Bailey (1914, 1923) illustrated this phenomenon in chicken.
They crossed a golden Hamburg hen (large) with Sebright Bantam cock
(small). The F1 were mid-size. Intermating the F1s produced F2s some of
which were smaller and some larger than the parental breeds.
Such results not uncommon and are because the parents do not represent
the extreme genotypes. Genetic analysis revealed that 4 gene pairs were
involved. In the golden Hamburg three pairs carried <dominant=
(contributing) alleles and the other pair <recessive= (non-contributing)
alleles. The reverse was the case in Sebright Bantam. The genotypes of
Hamburg and Bantam can be represented as follows: a+a+b+b+c+c+d d, and
a a b b c c d+d+, respectively. The F1 was heterozygous at all loci (a+a b+b

c+c d+d). In the F2, individuals homozygous dominant for all the gene pairs,
will be heavier than the G. Hamburg breed while those recessive for all the
loci will be smaller than S. Bantam. Such segregation is called transgressive
and results from the contribution of complementary genes from the parents
This principle is used extensively by both animal and plant breeders to

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obtain segregates superior to the parental types for traits inherited in a

quantitative manner.
Topic Summary
In Mendelian genetics, we studied traits that had a definite relationship with

their genotypes. Flowers were red or white and each were attributed to
specific genotypes. The majority of traits in organisms are however
influenced by several genes acting together. These traits are referred to as
polygenic or quantitative and show continuous variation. Such traits are
often of economic importance in the organisms, e.g. milk production in
animals or grain yield in crops. However, these traits are highly influenced
by the environment. Some traits have also been shown to be expressed
more or less in the progeny than in the parents. This is referred to as
transgressive inheritance.
Further Reading
(1) The Science of Genetics (5/e), by G.W Burns, Chapter 9.
(2) Applied genetics (University of Bath), Science series, Chapter 3.
Assignment
As part of your grasp of this topic, you are expected to do the following
questions. You may or may not submit your answers for marking.
(1) Two pairs of genes with 2 alleles each, A/a and B/b, determine plant
height additively in a population. The homozygote AABB is 50cm tall, the
homozygote aabb in 30cm tall.
(a) What is the F1 height in a cross between the 2 homozygous stocks?

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(b) What genotypes in the F2 will show a height of 40cm after an F1 x F2

cross?
(c) What will be the F2 frequency of the 40 cm plants?
(2) Two in bred varieties of oats yield about 4g and 10 g per plant,
respectively. The two are crossed and the F1 is selfed. About 1/64 of the F2
plants yield about 10g/plant. How many genes are likely to be responsible
for the difference in yield between the 2 varieties?
(3) Suppose the thickness of lard in pigs is controlled by 2 different allele

pairs; B1B1 and B2 B2. Each gene B1 or B2 increases the thickness of lard by
0.5cm. One individual of the genotype B1B1B2B2 weighing about 100kg has a
4cm thick lard layer and another with both genes recessive but of the same
weight, has a 2cm thick lard.
(a) List the phenotypes for different levels of lard thickness, if the genotypes
of the individuals considered are B1B1B2b2, B1b1B2b2 and B1b1b2b2b2.
(b) What will be the lard thickness in progeny derived by mating individuals
that have the genotype B1b1B2b2?
(c) What will be the result of mating individuals with the genotypes B1B1B2b2
x B1b1B2b2?
(4) Develop a genetic model to explain Nilsson-Ehle9s results for the cross
between dark-red and white wheat varieties.
(5) Assume that the difference between a corn plant with 6 cm long cobs
and one with 18 cm long cobs is due to:
(a) two gene pairs,
(b) three gene pairs, and
(c) four gene pairs.

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Assume that in each case the genes have equal and additive effects on cob
length. The two plants are crossed and the F1 is backcrossed to the parent
with long cobs. What proportion of the progeny is expected to produce 18
cm long cobs in each case?

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TOPIC SEVEN: SEX DETERMINATION AND LINKAGE
Introduction
In Topic four we studied how gametes are formed in sexually reproducing

organisms and the important role meiosis plays in generating variability in
these organisms. However, no exploration was made on the causes of sex
phenotypes in individuals. In this topic, two aspects on sex will be
considered: one, factors that determine the sex, and two, the inheritance of
sex-linked genes. Welcome to this topic.
Topic Time
The areas to be covered in this topic are broad. Thus, it is envisaged that
three lecture hours will suffice to successfully cover it.
Like for some of the earlier topics, there is no special requirement to learn
this topic. However, pre-review of relevant and related content in both print
and electronic media is strongly advised.
Learning Outcomes
i. Differentiate the terms: sex-linked, sex-influenced, and sex-limited.
ii. Explain the different mechanisms of sex determination obtaining in

various species;

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iii. Compare and explain the inheritance patterns between autosomal and
sex-linked traits;
iv. Name some sex-linked traits in human beings and explain their
origins;
v. Solve problems on sex determination and linked inheritance.
Topic Content
7.1 Sex Determination
Sex is an important aspect of an individual9s phenotype - you are male or

female. In higher organisms, sex is a means of procreation and through it
different chromosomes are brought together resulting in variable products.
In plants, the plant is either male or female or both depending the nature of
its flowers. In lower organisms we talk of sex types and these vary from few
to many. For instance, the organism paramecium has eight sexes (called
mating types) that are morphologically identical but physiologically different.
Whereas the majority of plants and some plants are monoecious, those that
are dioecious produce either male or female gametes and in them the
element of sex determination is inbuilt.
The sex of an organism is usually determined by a very complicated series of

developmental changes under genetic and hormonal control (Genetic sex
determination). However, it can also be due to ploidy level (and other
mechanisms: allelic mechanisms and environmental factors).
1. Non-genotypic sex determination (ESD)
This may be influenced by such factors as temperature or social interactions

(e.g. proximity to females) as in many sea fishes.

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a. Temperature: This is a crucial factor in such organisms as sea turtle,

alligators and geckos. In sea turtles, sex of fertilized eggs is determined by
temperature as follows:
(i) when eggs are exposed to temperatures <250C, they hatch as females;
(ii) when exposed to >320C, eggs hatch as males;
(iii) between 250 and 300C, both females and males hatch.
b. Social interaction: Proximity to females, e.g.in the marine worm

Bonellia viridis, and the sea fish Labroides dimidiatus. When eggs of B.
viridis hatch, the larvae remain free swimming and are sexually
undifferentiated. When they settle, they develop into females. However, on
coming into contact with a female, they become male as the female
produces a masculinizing hormone.
2. Genotypic sex determination (GSD)

This may be as a result of genes or chromosomes of the organism.
(1) Genetic
Several types of genetic sex determination are recognized as follows:
(a) Two alleles of a single gene, e.g. in many dioecious plant species such as
Asparagus. In this species, genotypes MM and Mm express male
phenotypes, while mm is female phenotype.
(b) Multiple alleles of a single gene as in members of the insect order

hymenoptera (wasps, bees, ants). The parasitic wasp Bracon hebetor has a
single locus with nine alleles, Sa, Sb, ……. Si. The sex of the individual
depends on the allelic composition at this locus. Hemizygous haploid
individuals are male and diploid individuals are female when heterozygous,
but male when homozygous.

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(c) The transformer gene in Drosophila. A recessive gene, 8tra9, on the third
chromosome (an autosome), when homozygous, <transforms= normal diploid
females (AAXX) into sterile males. The XX tra tra have many male
characters but are sterile.
(2) Ploidy and sex determination
The only known organisms without sex chromosomes are members of the
Hymenopteran species (wasps, bees and ants). In these insects, sex is
determined on a haplo-diploid basis (i.e. by ploidy of the number of the sets
of chromosomes). Thus:
(i) the queen and workers are diploid, arising from fertilized eggs. However,
the queen is fertile while the workers are sterile.
(ii) drones are haploid and male. They arise from unfertilized eggs.
The sex ratio of the progeny is dependent upon the number of eggs the
queen chooses to fertilize or not.
(3) Chromosomal sex determination
The earliest observations directly linking genetics and sex determination

occurred around 1900. The research involved the cytological examination of
sperm cells derived from insects. Variation in chromosome number between
different sperm cells and between somatic female and male cells was
observed and correlated with sex differences, viz:
(a) The XX-XY method (i.e. the XY male)
Found in human beings and about all the mammals. The Y chromosome
denotes a tendency to maleness, that is males are XY and females are XX.
Thus, males produce two gamete types, X and Y and females one type X.
Females are therefore referred to as the homogametic sex and males the
heterogametic sex. Each generation is characterized by a 1:1 sex ratio.

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In human beings, it is known that the Y chromosome carries genes that

trigger maleness, e.g. the gene SRY. This stems from studies of various
abnormalities involving sex chromosomes. For instance, when there is non-
disjunction, a female may have a gamete with XX and another without an X.
Fertilization of these gametes by Y sperm yield Y0 and XXY zygotes, both of
which develop into males.
In D. melanogaster, the Y chromosome is not a strong sex determinant.

Thus, sex phenotypes are based on sex indices, i.e. the ratio between
number of X chromosomes to autosomal sets (A). A sex index of 1.0 is
female, and 0.5 is male.
(b) The XX-XO method
Organisms in this group include grasshoppers, crickets, roaches and other

hemipteran and coleopteran insects. Females have two xx and males have
one x. Therefore, females have even number and males have an odd
number of chromosomes. Thus, males are the heterogametic sex and
females the homogametic sex.
(c) The ZZ-ZW method
In this method, males have two ZZ chromosomes and females, Z and W

chromosomes. This method operates in a comparatively large group of
animals such as lepidopteran insects, most birds, reptiles, amphibians and
some fishes. The W chromosome in poultry is not a strong female
determination element. Thus, sex is dependent upon the ratio between Z
chromosomes and the number of autosomal sets (A), as the case of
Drosophila.
7.2 Sex-linked Inheritance

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The sex chromosomes bear genes in addition to those directly concerned

with sex determination. Any genes located on the x or the analogous z
chromosome or on the Y are said to be sex-linked.
The pattern of inheritance in sex-linked genes is different from those in

autosomal genes. Reciprocal results involving autosomal traits yields same
results. However, this is not the case in sex-linked traits. In fact, sex linked
genes show a criss cross or zig-zag pattern of inheritance. This peculiar
pattern is due to the fact that the Y chromosome carries no alleles
homologous to those on the X chromosome.
There are few genes known to reside on the Y chromosome. In humans one
of the few documented Y-linked genes is for the trait hairy pinna of the ear.
This gene is transmitted from father to son and is called holandric gene.
Others are the H-Y gene (Histocompatibility gene on the Y) and the SRY
(sex-determination region on the Y chromosome).
1. Case of first sex-linked trait
The American geneticist, T.H Morgan reported this in 1910 in Drosophila

melanogaster. It involved a white-eyed mutant male fly. The transmission of
this trait was studied as follows:
(a) Cross I
(i) White eye male x pure breeding wild-type female (red eye phenotype).
The F1 (both male and female) was red-eyed.
(ii) F1 x F1 gave ¾ red-eyed, ¼ white-eyed, giving a 3:1 ratio. However, the
F2 males had red and white eyes in the ratio of 1:1, while all F2 females had
red eyes.
(b) Cross II
The reciprocal cross: Red-eyed male x white-eyed female.

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Result: (i) F1 males white eyed, females red-eyed. On selfing,
(ii) F2 females: ½ red eyed: ½ white eyed,
(iii) F2 males: ½ red eyed: ½ white eyed.
2. Examples of sex-linked traits
(a) In poultry, barredness is a sex-linked dominant trait.
(b) In humans there are up to 100 sex-linked hereditary traits. They include:
(i) Hemophilia (type A). This occurs due to defects in the mechanism of
blood clotting. It is due to a recessive mutant allele.
(ii) Color blindness – a recessive trait,
(iii) Glucose-6-phosphatase deficiency,
(iv) Some forms of albinism,
(v) Cleft palate,
(vi) Hydrocephalus,
(vii) Testicular feminization,
(viii) Duchenne9s muscular dystrophy
3. Sex-linked recessive and dominant traits
(1) Recessive
In diploid organisms with sex determining mechanisms, a trait governed by

a sex recessive gene is found more frequently in the male than in the female
of the species. Example is color blindness in humans.

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(2) Dominant
A trait governed by a sex-linked dominant gene usually manifests itself by

being found more frequently in the females than the males of the species.
7.2 Sex-influenced and Sex-limited Traits
These terms relate to situations where the phenotype produced by a specific

genotype is altered because of the sex of an individual. Sex-limited and sex-
influenced genes are autosomal and the genotypes follow normal Mendelian
patterns of inheritance, but the phenotypes are altered by the hormonal
environment. These two terms are often confused and so care must be
taken to differentiate between them.
1. Sex-influenced traits
These are also called sex-conditioned traits. They appear in both sexes but
occur in one sex more than in the other. Examples are:
(1) Baldness in humans. Assume gene B is for baldness, and its allele h for
not bald. Both male and female are bald when they have the genotype BB.
However, the heterozygous become bald in males due to the presence of
male hormones, and females are not bald. If a heterozygous female
becomes bald then her ovary has developed a masculinizing tumor, viz:
Genotype Male Female
BB bald bald
Bb bald not bald
Bb not bald not bald

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(2) Horning in sheep. Is due to a pair of genes. Gene H is dominant in

males but recessive in female and is for horns. Its allele h (for no hornless)
is recessive in male but dominant in females. Thus:
Genotype Male Female
HH horned horned
hh hornless hornless
Hh horned hornless
2. Sex-limited traits
These appear exclusively in one sex. Examples:
(1) Humans: (a) Women – breasts and ovary formation,
(b) Men – facial hair distribution and sperm production.
(2) Birds: plumage patterns where males express cock-feathering, while

females express hen-feathering.
In all instances, the expression of the traits has a 100% penetrance in one
sex and 0% penetrance in the other sex.
Topic Summary
In this topic, we learned a number of sex determination mechanisms (types

or modes). In the majority of them, sex was related to the chromosomes,
either sex chromosomes or autosomal. In humans and other mammals, we
showed that chromosomes X and Y were key in differentiating male from
female. Similarly, it was shown that in insects, chromosome number defined
one sex from the other with females having an even somatic number and
males an odd one. For instance, a male grasshopper had 23 and a female 24
chromosomes in somatic cells and this accounted for the XX – XO

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mechanism of sex determination. Because of the reversal in the status of

homogametic and heterogametic sexes in birds, fishes, amphibians, etc.
another mechanism, the ZZ – ZW operated in these species. Genes in
certain loci also affected the determination of sex. Environmental sex
determination also operated in some organisms based on social interaction,
physical and chemical properties. Also examined was the inheritance of sex-
linked traits and differentiation made between sex-influenced and sex-
limited traits.
Further Reading
1. Genetics (3/e) by Peter J. Russell
2. The Science of Genetics (5/e) by George W. Burns
Assignment
Us the questions below to make a self-assessment of your understanding of

this topic. Where you get stuck feel free to consult me.
1. A color-blind boy has a mother with normal vision and a colorblind father.
(a) From whom did he inherit his color blindness? (b) Could he have a color
blind sister?
2. Differentiate these terms: sex-linked, sex-influenced, and sex-limited.
3. Explain the mechanism of sex determination in the marine worm B.

viridis.
4. In Drosophila, white eyes are a sex-linked trait, with white eyes (w) being
recessive to red-eyes (w+). A white-eyed female is crossed with a red-eyed
male. An F1 female from this cross is mated with her father, and an F1 male

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is mated with his mother. What will be the eye color of the progeny of these
two crosses?
5. Which of the following statements is not true for a disease that is

inherited as a rare x-linked dominant?
(a) All daughters of an affected male will inherit the disease.
(b) Sons will inherit the disease only if their mothers have the disease.
(c) Both affected males and affected females will pass the trait to half the
children.
(d) daughters will inherit the disease only if their fathers have the disease.

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TOPIC EIGHT: MUTATIONS
Introduction
In the preceding topics, we have extensively dwelt on genes and their

functions, namely inheritance of characteristics (traits) between generations.
For heritable traits to be comparable, there has to be a difference between
them (e.g. tall vs dwarf), that is between alleles for one form and the other.
What was not discussed was <how this difference arose=. In topic 3, we
studied cellular processes, particularly meiosis that creates part of the
variation we see between same organisms. This source of variation is called
recombination. Besides recombination, mutation is the other contributor to
this variation. In fact, mutation is considered the only true mechanism of
creating variability as it leads to new forms of the same gene.
Recombination on the other hand merely reshuffles the same genetic
material.
In this topic therefore, we examine how mutations bring variation at the

gene or chromosome levels, their benefits and harmful effects.
This topic comprises three parts: gene mutation, and chromosomal

mutations (structural and numerical).
Topic Time
Coverage of each section takes about two lecture hours. Thus, the topic
could be effectively covered in six hours.

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i. Define the terms: substitution, transition, transversion, frameshift,

inversion, duplication, translocation, inversion, polyploidy and
aneuploidy (heteroploidy).
ii. Give the causes, benefits and harmful effects of mutations.
iii. List and explain types of gene mutations.
iv. Demonstrate how such crops as bread wheat and triticale originated
v. Name some inborn errors attributable to mutations in humans.
vi. Describe types of chromosomal structural mutations
vii. Explain the possible ways of creating polyploids
viii. Answer any question on this topic
Course Content
8.1 Gene Mutation
8.1.1 Introduction
Gene mutations or DNA mutations, as they are sometimes called, are

alterations in the DNA sequence of an organism that result from the action
of chemical and physical agents or errors of DNA replication. At the level of
the organism, they can be defined in terms of the phenotype they produce,
such as an albino and a sickle cell suffering person; bacteria that are
nutrient mutants, antibiotic resistant mutants, and so on.
Changes of phenotype, for instance morphological and functional are

underlain by genetic changes, and biological evolution occurs because
hereditary material, DNA, can change from generation to generation.

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The vast majority of mutations is deleterious to the organism and is kept at

low frequency in the population by the action of natural selection.
Mendel9s laws (principles) of heredity assume equality in survival and/or

reproductive capacity of different genotypes. However, deviations often
show and would be proportional to the decrease in survival and/or
reproductive capacity of mutant type relative to the normal or wild type.
8.1.2 Classification of mutations
Several criteria exist for classifying mutations depending on the basis for
study or investigation, viz:
1. Size
Mutations that occur at the gene level can involve one or a few bases.
(a) Point mutations. These involve alteration of a single base. They fall into a
number of categories, each with different consequences for the protein
encoded by the gene.
(b) Gross mutations. These involve alteration of longer DNA sequences.
Note:
While 8a9 and 8b9 above are designated gene mutations, the term 8gross
mutations9 also refers to mutations affecting sections of or number of
chromosomes!
2. Quality
(1) Structural mutations. These involve changes in the nucleotide content of

a gene, and are classified as:
(a) Substitutions. A substitution occurs when a base at a certain position

in one strand of the DNA molecule is replaced by one of the other three

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bases. Constitute <20% of the spontaneous mutations and are either

transitions or transversions (Fig. 8.1).
(i) Transitions – mutations in which one purine (A or G) replaces the

other, or one pyrimidine (C or T) replaces the other.
(ii) Transversions – mutations in which a purine changes to a pyrimidine

or vice versa.
transitions
Purine Purine
A G
transversions
T C
Pyrimidine Pyrimidine
transitions
Fig. 8.1. A summary of substitution mutations that can occur in DNA.

Phenotypic example
Human hemoglobin (Hb-A) has about 140 amino acid residues in each of
its a and b chains.
In the Hb-A: val his leu thr pro glu glu
1 2 3 4 5 6 7
Hb-S: val his leu thr pro val glu
An abnormal hemoglobin (Hb-S) is produced by individuals with a

mutant allele. One of the triplets for glutamic acid is GAA. If a mutation
occurred which changed the first A to U, then the triplet GUA (a missense

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triplet) is translated as valine. Thus a change in a single nucleotide in the

hemoglobin gene produces a substitution of one amino acid in the 140 amino
acids polypeptide with profound phenotypic consequences.
(b) Frameshift mutations. These produce more complicated rearrangements

of the DNA sequence. They involve either a deletion (removal of one or more
base pairs (bps) from a DNA molecule) or insertion (addition of one or more
bps). Most of the spontaneous mutations are of this type.
(2) Rearrangements. These are mutations that involve changing the location
of a gene within the genome, often leading to position effects or structural
variants, e.g. inversions and translocations.
3. Origin
(1) Spontaneous
These are chance mutations that so infrequently occur in the genome of

an organism that they may not be so easily noticed. They usually occur
without the intervention of humans. Thus a geneticist has to search among a
large population to find a single occurrence. Their occurrence can be traced
to errors during DNA replication and/or due to environmental factors.
(2) Induced mutations
Occur through exposure to abnormal environments or mutagens such as

ionizing radiation (e.g. x-rays), non-ionizing radiation (e.g. uv), and
chemical mutagens (e.g. nitrous acid).
4. Direction
(1) Forward mutation. Is a mutation that changes the wild type allele of a
gene to a different allele. The resulting novel allele can be either dominant
or recessive to original wild type. This is usually diagrammed as A to a.

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(2) Reverse (or backward) mutation. A mutation that causes a novel a novel
mutant allele to revert back to wild type, a to A.
5. Cell type
Mutations can occur in any living cell that contains genetic material,
either somatic or a reproductive cell.
(1) Somatic mutations are mutations that occur in body cells and therefore
are limited to the organisms in which they occur. They are perpetuated only
in cells descended from the one in which the mutation originally took place.
If the mutant trait is clearly detectable, it is expressed as a mosaic or
chimera. An example is the navel orange. It resulted from a spontaneous
mutation in single cells which constituted only a very small part of the body
of an orange tree. The cell carrying the mutant gene gave rise to more of its
kind, eventually producing an entire branch on its respective tree which had
the characteristics of the mutant type. Through vegetative propagation it
has been possible to propagate this variety.
(2) Gametic (or germinal) mutations occur in reproductive cells or tissues

that give rise to reproductive cells and therefore can be passed on to
succeeding generations. The earliest recorded such mutation was in sheep
by S. Wright (1791) in USA. The single short-legged ram among his flock
was used to breed 15 ewes resulting in two short –legged lambs. Short-
legged sheep were then bred together and a line was developed in which the
new trait was expressed in all individuals. The mutation that gave rise to the
short-legged sheep was obviously of the germinal type because the cell
carrying the mutation had the capacity to reproduce the organism.
6. Phenotypic expression. This implies that the mutation is either

dominant or recessive.
(1) Dominant mutations

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This is a case of a recessive allele of a gene changing to a dominant one.
Their study requires no special techniques because they express themselves

even in a heterozygote. However, it is comparatively rare for a recessive
allele to mutate to a dominant form. A mutation in organisms possessing a
single set of genes (haploid) such as bacteria, fungi and viruses are
expressed whether recessive or dominant and since they reproduce
asexually all their descendants are bound to carry such mutations.
(2) Recessive mutations
The vast majority of mutations are not expressed in diploids in the first
generation, M1 (mutation generation 1) because they are recessive. They will
show up only when in a homozygous state, usually M2 or subsequent
generations (Fig. 8.2)
Parents: AA AA
Mutation during
gametogenesis
A a A
AA Aa the recessive mutation is not
expressed
AA (most of M2 expressed) AA Aa aa = genotypes
1 2 1 = gtic ratio
Fig. 8.2 The expression of a recessive mutation in the phenotype

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Note:
(i) Recessive mutation is first expressed in the m2 progeny of the mutated

parent.
(ii) Sex-linked mutations (below) can be detected directly in organisms such

as man or Drosophila melanogaster where males are hemizygous for all or
part of the X-chromosome.
7. Importance
This is subjective but it refers to how the researcher views the resultant
mutation, whether beneficial or harmful. Very few mutations are
documented as beneficial. However, the vast majority of mutations in fact
does not survive beyond the M1 and are therefore called lethal.
8.1.3 Practical applications of induced mutations
(1) Development of desirable traits in crop plants, e.g. barley, wheat, oats,
soybeans for higher yield, resistance to smuts in barley; absence of hull on
seeds, increased protein.
(2) Technique used in the production of antibiotics such as penicillin.
(3) Medical management of cancer through radiotherapy
(4) Create desirable plants in vegetative propagated plants
(5) Polyploid breeding
(6) Screening for lethal mutations in embryos

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8.2 CHROMOSOME MUTATIONS
8.2.1 Structural mutations (or Structural aberrations)
1. Introduction
Chromosomal structural mutations (or simply structural mutations), also

called chromosomal aberrations are changes in the genome that delete, add,
or rearrange substantial portions of one or more chromosomes. These
alterations have important genetic consequences. In humans these
chromosomal alterations do not permit survival of fetus - a spontaneous
abortion, stillbirths, etc. If it does survive, it will express medical syndromes
associated with the aberration.
2. Causes
1. Random or nonrandom chromosome breakages as a result of improper

alignment during meiosis,
2. Environmental agents called mutagens, e.g. heat, radiation, etc.
3. Types
There are four types of structural alterations: deletions, duplications,

translocations, and inversions. In deletions and inversions, chromosome
breaks are confined to one pair of chromosomes only while in duplications
and translocations, more than one chromosome pair can be involved in a
chromosome breakage (Fig. 8.4).

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Fig. 8.4 The four kinds of structural damages in chromosomes
(1) Deletion (deficiency)
Deletion involves loss of genetic material which is more or less deleterious,

depending on the number and role of genes which are lost. Acentric
chromosome segment (that is detached from a centromere) is lost. The
chromosome break can occur terminally or interstitially.
(a) Effects of deletion
Two effects are recognized, one genetic and the other cytological. Both can
be used to detect the occurrence of a deletion.
(i) Cytological. This can be seen in cells in which a normal and a deletion
chromosome are synapsed (e.g. gonadal cells during meiosis). Since
chromosomes pair gene by gene during synapsis, a buckling (or looping) will
occur in the synapsed chromosomes at the point of the deletion (Fig. 8.5).

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Fig. 8.5: Pairing of normal and deletion chromosomes
(ii) Genetic. This is called pseudodominance. This is the phenotypic

expression of a recessive gene on a normal chromosome when the region in
which it is located has been deleted from the homologue.
Both pseudodominance and buckling can be used to determine the exact

location of the gene showing pseudodominance. This can be used to
construct cytological maps for the same genes for which percentages of c.o.
have yielded a genetic map.
(b) Human examples of consequence of deletions
In human beings, the most well-known ones are:
(i) Cri du chat (<cry of the cat=) syndrome, a condition first observed by
Lejeune et al (1963). It is due a deletion of most of the short arm of
chromosome 5. The affected baby cries like a suffering cat, has physical

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(facial) anomalies, and is severely mentally retarded. The abnormal cry is

due to malformation of the larynx.
(ii) Turner’s syndrome. One of the X-chromosomes has lost its small arm.
Most such fetuses are aborted, but if born are sterile with low hormonal
level.
(2) Duplication
A duplication is the presence of a part of a chromosome in excess of the

normal complement. It is generally less harmful than a deletion, as one copy
of the duplicated genes can become mutated and evolve a new role.
(a) Types
Several types of duplications exist, such as
(i) extrachromosomal complement,
(ii) tandem duplication,
(iii) reverse tandem duplication,
(iv) displaced duplication, and
(v) transposed duplication.
(b) Effects of duplications
The effects are also both genetic and cytological.
(i) Genetic
Duplications of certain genetic regions may produce specific phenotypes and

act like a gene mutation. For instance, the dominant mutation bar in
Drosophila melanogaster produces a slit like eye instead of the normal oval
one. The bar eye was due to more than one dose of the normal eye region
(16A) found on the X chromosome (Fig. 8.6).

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Fig. 8.6 Bar eye condition in Drosophila as a result of duplication
(ii) Cytological
Like deletion, duplications also result into unequal or looped-out

configurations at synapsis.
Duplications are sometimes detected because individuals that are

expected to be homozygous for a recessive allele fail to manifest the
recessive phenotype owing to the presence of a dominant allele in the
duplicated segment.

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(3) Inversion
An inversion is a chromosome aberration that results when a segment of a

chromosome is excised and then reintegrated in an orientation 1800 from
the original orientation (Fig. 8.4). Inversions in general do not result in a
loss or gain of DNA so do not produce a genetic imbalance. However, genes
when placed into a new setting may lose their regulatory controls or alter
the activity of genes present in the area, a phenomenon called <position
effect=.
Inversion is the most common type of chromosomal aberration. Inversions

have no effect on mitotic individuals but do affect meiosis.
Depending on the occurrence of the inversion in relation to the centromere,

two kinds of inversions are known, pericentric and paracentric. A pericentric
inversion includes the centromere; a paracentric inversion is confined to one
arm of the chromosome.
Categorization of inversions
Inversions are either homozygous (both homologues similarly affected) or

heterozygous (one of the homologous pair affected).
(a) Homozygous inversion
Using the example of a chromosome pair A B C D E F G H / A B C D

E F G H, a homozygous inversion would be A D C B E F G H / A D C B E F
G H. Such an inversion is genetically unimportant, its pairing is normal,
usually has no phenotypic effects, and occurs rarely.
(b) Heterozygous inversion
In the above arrangement, an individual with a heterozygous inversion

would be A B C D E F G H / A D C B E F G H, i.e. one chromosome has a

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normal gene order and the other has an inverted B C D segment. Such an
inversion is:
i. Useful genetically and cytologically,
ii. Pairing chromosomes form loop of inversion segment.
iii. Crossing over in loop creates duplication and deficiency chromatids
Effects of inversions
The effects may be both cytological and genetic and differ between
paracentric and pericentric.
Paracentric inversions
(a) Cytological
During meiosis, the synaptic configuration attempts to maximise the pairing

between homologous regions in the two chromosomes.
Crossing over within the inverted region has the effect of connecting
homologous centromeres in a dicentric bridge as well as producing an
acentric piece of chromosome. At the end of anaphase-2, the meiotic
products are one each of:
(i) Normal product,

(ii) Deletion product,
(iii) Deletion product, and
(iv) Inversion product
Fertilization of a nucleus containing the broken bridge should produce

defective zygotes that die because they have unbalanced sets of genes.
Ultimately this results in low frequency of recombinants. Crossing over

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within the inverted region decreases the frequency of functional,

chromosomally normal gametes.
Pericentric inversions
Its net effect is also that cross over products are not recovered. However,
since the centromeres are contained within the inverted region, disjunction
of cross over chromosomes is normal.
Crossing over within the inversion produces chromatids that contain

duplication and a deletion for different parts of the chromosome.
Fertilization of a nucleus carrying a cross over chromosome generally results

in its elimination through zygotic mortality caused by an imbalance of genes.
1 2 3 4 5 6
______________________________
______________________________
1 2 5 4 3 6
End-products of meiosis:
(i) Normal product;
(ii) Dupl. 6 arm, deletion 2, 1 arm;
(iii) Inversion product;
(iv) Dupl. 2, 1, deletion 6 arm.
Half of the products contain duplications and deletions and so do not
function (i.e. there is selective recovery of non-c.o. chromosomes as viable
progeny); the other half, all gametes are functional with half of them normal
and the other inverted.

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Thus the consequences of pericentric inversions are:
(a) Genetic. There is suppression of cross overs, and possibly the

appearance of a mutation-like position effect.
(b) Cytological. Formation of a loop whenever synapsis occurs in an

inversion heterozygote.
4. Translocation
A translocation involves exchange of distal regions of nonhomologous

chromosomes.
(1) Types
(a) Simple translocation. This involves a single break in a chromosome. The

broken piece gets attached to one end of a nonhomologous one.
(b) Shift translocation. In this, the broken end of one chromosome gets
inserted interstitially in a nonhomologous chromosome. Therefore, such a
translocation involves breakage at three points and union at two points.
(c) Reciprocal (interchromosomal) translocation. In this type there is an

exchange of chromosome parts between two nonhomologues. This is the
best-studied and most frequent type of translocation. It is characterized
genetically by altered linkage groups and by the fact that a gene with <new
neighbors= may produce a somewhat different effect in its new location.
Translocations can also be categorized as either homozygous or

heterozygous depending on whether both members of a homologous pair are
involved or not.
(i) Translocations homozygotes. These behave as normal chromosomes from

which they arose. If they persist in nature, they can give rise to a new

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chromosomal race as evidenced in certain genera of plants – Datura,

Oenothera, - and animals, e.g. roaches and scorpions.
(ii) Translocation heterozygotes. The two nonhomologues exchange parts

but involving one of the two chromosomes in each pair. They are marked by
a certain degree of meiotic irregularity.
During meiosis, such homologues pair in a way that maximizes their contact.
This requires that the chromosomes form the typical cross-like figure at
pachytene with the pairing partners being changed at the point of the
translocation break (Fig. 8.8).
N1 N2
A B C D E F L M N O P Q
NORMAL
TRANSLOCATED
A B C O P Q L M N D E F
T2 T1
The pairing of these chromosomes results in a cross-like configuration

(quadrivalent) (Fig.8.8).

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Fig. 8.8 The cross-like configuration of pachytene chromosomes
At anaphase-1. There are 3 possibilities for chromosome separation (see

above). These are:
(i) Alternate segregation, i.e. 1N + 2N; 1T + 2T. The result is normal

gametes plus reciprocal gametes.
(ii) Adjacent-1 segregation, i.e. 1N + 2T; 2N + 1T. Result: both types of

gametes unbalanced leading to 50% sterility.
(iii) Adjacent- 2 segregation, i.e. homozygous centromeres go to the same

pole, viz. 1N + 1T; 2N + 2T.

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(2) Effects
(a) Genetic
(i) New linkage arrangements. The genes in the new setup behave as if they
were in the same linkage group since only gametes containing the parental
combinations of chromosomes can produce viable gametes.
(ii) Position effects.
(iii) Semi-sterility. These translocations are frequently partially sterile

because between half and two-thirds of the gametes or meiospores fail to
receive the full complement of genes required for normal development. Such
semi-sterility is seen in maize cobs.
(b) Cytological: Cross-shaped figure (as above).
8.2.2 Numerical Mutations
1. Introduction
Usually the chromosome number of a species is maintained constant

generation after generation and this leads to constancy of traits. Since
variation is a must for evolution to occur, this chromosome constancy is
often affected and by mutation.
Like structural aberrations, changes in chromosome number (numerical

mutations) can occur spontaneously (in both natural and laboratory
populations of organisms) or induced (using certain appropriate mutagens).
Anomalies in chromosome number of an organism can be of two types,

euploid and aneuploid.
(a) Euploidy involves changes in whole sets of chromosomes, while
(b) aneuploidy involves changes in chromosome numbers by additions or
deletions of less than a whole set.

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The number of chromosomes in a basic set is called the monoploid number

and is designated x. Most organisms (most animals and some plants) have
only two sets of chromosomes and are called diploid.
Organisms with multiples of the monoploid number of chromosomes are

called Euploids. Chromosome numbers beyond the diploid is described as
polyploidy. Thus, monoploid (1x), diploid (2x), triploid (3x), tetraplod (4x),
pentaploid (5x), hexaploid (6x), septaploid (7x), octoploid (8x), etc.
The haploid number (n) refers strictly to the number of chromosomes in

gametes. In most animals and many plants, the n and x are the same,
hence they are used interchangeably.
In certain plants, the gametic and somatic chromosome numbers make an

arithmetic series (Table 8.1).
Table 8.1 Chromosomal variations in selected plant species
Species haploid (n) basic (x) somatic (diploid) (2n)
(a) Oats
Avena strigosa 7 7 2n = 2x = 14
A. barbata 14 7 2n = 4x = 28
A. sativa 21 7 2n = 6 x = 42
(b) Wheats
Triticum monococcum7 7 2n = 2x = 14
T. turgidum 14 7 2n = 4x = 28
T. aestivum 21 7 2n = 6x = 42
(c) Cottons
Gossypium arboreum 13 13 2n = 2x = 26
G. hirsutum 26 13 2n = 2x = 52

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2. Haploidy (Monoploidy)
If an organism is usually diploid, a monoploid individual has only one set of

chromosomes. If a human were to develop from a gamete, female or male,
such an individual would be referred to as monoploid.
(1) Occurrence
Monoploidy is common in plants but rare in animals. Such individuals usually

develop abnormally in many diplod animals. Monoploids occur or have been
developed in Nicotiana, Datura, Oryzae, Secale, etc. for plants, and in male
wasps and bees for animals.
(2) Advantages
(a) The haploid condition in microbes makes them useful genetic material.
(b) If the haploid condition can be developed easily in other organisms and
the setbacks of poor growth (frail, small leaves, low viability) and sterility
overcome, then it could be a breakthrough in plant breeding. This is so
because the problem of heterozygosity could be avoided. Then by doubling
of the chromosomes, a diploid would be generated that is homozygous for all
the traits and genes. This is routine in plants using haploid products of
meiosis in plant anthers.
(3) Development
Haploids have been developed in:
(a) Tobacco by culturing anthers in suitable media (Maheswari and Guna,
1966);
(b) Onions, by growing roots in a suitable medium (Sihna and Bhojwani).

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3. POLYPLOIDY (EUPLOIDY)
Polyploidy is when a cell or organism has more than its normal number (i.e.
diploid number) of sets of chromosomes, viz. triploids (3 sets) and
tetraploids (4 sets), and so on.
Plant genomes are much more tolerant of changes in chromosome number

and 47% of all flowering plants are polyploid. Polyploidy is important as a
speciation mechanism in plants because it can prevent interbreeding in a
single step. A new polyploid can only produce fertile offspring if its gametes
fuse with a gamete of the same ploidy.
(1) Origin
Polyploidy arises in a variety of ways – both natural and induced. They

include:
(a) Failed mitotic division. Chromosome doubling occurs naturally in all

plants at low frequency as a result of mitotic failure. During mitosis in a
diploid somatic cell, if the chromosomes duplicate and divide but cytokinesis
fails to occur, a tetraploid cell arises-thus creating autoploids.
(b) Abnormal meiosis leads to a diploid gamete instead of a haploid one,

especially during meiosis 2.
(c) Fusion of gametes, e.g. two diploid gametes = tetraploid; a diploid and a
haploid = triploid, etc.
(d) Induced with chemicals, temperature shocks and mechanical injury of

tissues.
(i) Mechanical injury: e.g. in tomato plants. Disorganized cell division occurs
at cut ends of stem and a callus tissue develops. Most cells in this tissue are
tetraploid.

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(ii) Temperature shocks: e.g. to maize. Temperature shocks disorganize

cytokinesis.
(iii) Chemical treatments, e.g. with indole acetic acid (IAA) and colchicine.
- IAA induces cell division in non-meristematic cells, and thus polyploidy. If

the rate of nuclear division is increased, polyploid cells arise because cell
wall synthesis, which is responsible for cytokinesis, is not able to match
nuclear division;
- Colchicine: is believed to interfere with spindle formation and thus induce

polyploidy. This it does by preventing the formation and organization of the
spindle fibers. Moreover, even cytokinesis is prevented.
Once polyploidy is established, intercrossing among plants with different

chromosomes may give rise to numerous combinations. Most of these are
sterile.
(2) Advantages
(a) Polyploids offer an opportunity for studying gene dosage effects, i.e. how
two or more alleles of one locus behave in the presence of a single dose of
an alternative allele. When one allele in the pollen is able to mask the effect
of a double dose of another allele in the resulting endosperm, the former is
said to exhibit xenia over the latter.
(b) Polyploidy is useful in evolution. Induced polyploidy is used by plant

breeders for improving yield, esp. in those crops in which luxuriant
vegetative growth is the useful part, e.g. fodder crops.
(c) polyploids have larger cells, leaves, flowers and fruits. Thus, polyploids
have a place among vegetatively grown crops and used as aesthetics, food
and feed.
(3) Disadvantages

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(a) Cell or organisms are genetically imbalanced due to the extra genetic
material therein. For instance, a tetraploid human fetus has 1: 1,000,000
chances of survival.
(b) In organisms with a sex-determining mechanism, this may be disrupted

by polyploidy.
(c) Meiosis produces unbalanced gametes. Even-numbered polyploids are

viable and fertile (e.g. bread wheat), but the odd-numbered ones (e.g.
bananas) are not.
(4) Types
Two types of polyploids are recognizable depending on the origin of

chromosomes, viz. autopolyploid and allopolyploid. The former is composed
of multiple sets of chromosomes of the same species, and the latter is
composed sets of chromosomes from different but closely related species
(Fig. 8.9).
SPECIES 1 (2n = 4) SPECIES 2 (2n = 6)
Sterile F1 (2n = 5)
chromosome doubling chromosome doubling
chromosome doubling
AUTOPLOID, 2n = 4x = 8 AUTOPLOID, 2n = 4x = 12
e.g. cotton

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ALLOPLOID or AMPHIDIPLOID
2n = 2x + 2x = 10
Fig. 8.9 Creation of autoploids and alloploids

An estimated 1/3 of all domesticated species of plants (and >70% of forage
grasses) are euploids, with multiples of either the basic or the genome
number of chromosomes. Take Chysanthemum, basic set = 9 chromosomes.
Species also have 18, 36, 54, 72 and 90 chromosomes. In Solanum, basic
set = 12. Have species of 24, 36, 48, 72, 96, 108, 120, 144 chromosomes.
Autopolyploids
These usually,
(a) are larger and luster in growth than diploids, thus their benefit as
vegetative crops;
(b) have reduced fertility due mainly to the behavior of chromosomes at

meiosis, i.e. there is multivalent formation. Seed set is therefore low. In
many crop species, this reduced fertility may not be a problem if they can be
reproduced asexually or vegetatively - tubers (potatoes) or grafts (apples
and pears), etc.
Genetic ratios for simply inherited traits are more complex than in diploids.
With alleles A and a, three genotypes – AA, Aa and aa – are possible in
diploids. In tetraploids, 5 genotypes AAAA, AAAa, AAaa, Aaaa, and aaaa are
possible.
True autoploids are less frequent in nature than alloploids. However, induced
autoploids have been produced in maize, rye, flax, soybeans, various spp of
forage grasses and legumes, fruits, vegetables and flowers. This is by use of
colchicine or by crossing different ploidy levels. For instance, the seedless
watermelon and apples are triploids. However, their use has been limited.

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This is chiefly because of reduced seed production, e.g. red clover (an
autotetraploid) vs diploid.
Allopolyploids
Mating two closely related species with different genomes and doubling the
chromosome number of the complement results in an AMPHIDIPLOID.
Amphidiploids are a potential source of new crop species, e.g. the
commercially grown Triticale. This is from a cross between a wheat plant of
Triticum durum and rye (Secale cereal). The hybrid is usually sterile.
However, by doubling the chromosomes of the F1, a fertile hexaploid Triticale
was made!
In 1927, a Russian scientist, G. Karpechenko attempted to create a fertile

alloploid, Raphanobrassica from two diverse genera, the cabbage (Brassica)
and radish (Raphanus). His desire was a hybrid crop with leaves of a
cabbage and leaves of radish. Although he managed to create a new species
(i.e. Raphanobrassica), his amphidiploid had the roots of a cabbage and the
leaves of radish (Fig. 8.10)!
Raphanus sativus (Radish) x Brassica oleracea (Cabbage)
(2n = 18) (2n = 18)
F1 hybrid
Allodiploid (sterile)
n + n = 9 + 9 = 18
chrom. doubling

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Raphanobrassica
(an amphidiploid or Allotetraploid)
2n + 2n = 18 + 18 = 36
Fig. 8.10 The creation of Raphanobrassica species
Many important crop species are alloploids, e.g. bread wheat, C. arabica, G.
hirsutum and peanuts. Banana is a triploid that vegetatively propagated and
shows high sterility. This sterile condition is commercially useful in this plant
because banana seed is hard and inedible.
Prof. A. Muntzing, a Swedish geneticist developed Triticale (wheat-rye or

wye) in 1930 by combining genomes of T. durum (2n = 4x = 28; AABB) and
Secale cereale, a diploid (2n = 2x = 14; RR). Today, triticale is regarded as
a quality crop combing the positive attributes of both crops.
Note:
Alloploid animals are rare because interspecific hybridization is extremely

rare in animals. Even if hybrids are formed, they are usually sterile (e.g.
mule) and can9t be multiplied vegetatively.
4. Aneuploids
Aneuploidy is an imbalance in chromosome number. Monosomy and trisomy

are the two most common forms of aneuploidy. Monosomy is the absence of
one chromosome (2n - 1) from a set and trisomy is the presence of one
additional chromosome (2n + 1).

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(1) Causes
(a) Nondisjunction at both mitosis and meiosis. Aneuploidy often arises from
nondisjunction of chromosomes at anaphase of mitosis or anaphase-1 or -2
of meiosis.
(b) It may also arise from chromosomal lagging whereby one chromosome
moving more slowly than the others during anaphase is excluded from the
telophase nucleus, and is then lost. The end result is a gamete with one
extra chromosome (n + 1) and a reciprocal gamete that is missing a
chromosome (n – 1).
(c) Gamete union. The n + 1 gamete causes trisomy (2n + 1) when it unites
with a normal haploid (n) gamete, while the n-1 gamete causes monosomy
(2n-1) when it unites with a normal haploid (n) gamete.
(2) Disadvantages
(a) Aneuploids are for the most part less vigorous than normal plants,
presumably because of the physiological disturbances that are associated
with unbalanced numbers of chromosomes.
(b) They tend to be irregular meiotically and as a result they are likely to be
partly or even highly sterile.
These two setbacks are the major drawbacks limiting their use in plant
breeding. However, certain types of aneuploids, particularly nullisomics (2n
– 2A), monosomics (2n – 1A) and trisomics (2n + 1A), are finding a place in
plant breeding because they are useful in locating genes on particular
chromosomes.

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The concept of aneuploidy is here illustrated with three chromosomes of a

diploid species, designated AA, BB and CC (Table 8.2).
Table 8.2 Aneuploid types

Type of aneuploidy Chromosome number
Disomic 2n
(a) chrosome additions
i. Primary trisomic 2n + 1A
ii. Double trisomic 2n + 1A + 1B
iii. Tetrasomic 2n + 2A
(b) chromosome deletions

i. Monosomic 2n – 1A
ii. Nullisomic 2n – 2A
_________________________________________________
Blakeslee first observed trisomy in the toxic weed, Datura stramonium (2n =
24).
(3) Applications
(a) Important advancements in aneuploidy have led to development of

chromosome engineering techniques through which individual chromosomes
may be moved from one genotype to another.
(b) Useful in associating genes with linkage groups or chromosomes. For

instance, D. stramonium has 12 different monosomics designated A to L. In
type A, an additional dose of the A chromosome produces rolled leaves; an
additional dose of the B chromosome produces glossy leaves, etc. Thus, the

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gene for rolled leaves and glossy leaves are on chromosome A and B
respectively.
(4) Chromosome anomalies in human beings
Variations in chromosome numbers, both autosomal and sex have been

associated with certain medical challenges in humans as below.
(a) Autosomal chromosomes
(i) Mongolism or down syndrome: This condition is also often referred to as

Trisomy-21. It is linked to a 3rd chromosome of the G group (specifically
chromosome 21). Arises due to either nondisjunction or translocation.
Possible in children of women of > 40 years.
(ii) Edward9s syndrome: Associated with an additional chromosome in the E

group, possibly 18. Infants rarely live beyond six months.
(iii) Patau9s syndrome – due to extra chromosome 13. Associated with

severe intellectual disability and physical abnormalities, e.g. multiple
developmental anomalies such as cleft palate and hip, extra fingers and
toes. Such newborns do not live beyond the first few days or weeks. Occurs
1 in 5,000 live births.
(b) Sex chromosomes
(i) Turner9s syndrome, loss of either an X or a Y so that the individual has 45

chromosomes. Internal sex organs are female but non-functional. Such
females are sterile.
(ii) Klinefelter9s syndrome, due to the presence of an extra X so that the

individual has 47 chromosomes, viz:

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XXX = metafemale with hypofunctional ovaries, mental retardation,

underdeveloped genital organs and thus limited fertility.
XXY = individual is phenotypically male but shows tendency to female

through development of breasts, is mentally retarded, has small testes and
scant body hairs. Also if a person has this genotype, he has a tendency for
delinquency and crime. He9s usu. tall (>6 ft), of gross disturbance in
personality and temperament, comes into conflict with the law at a very
early age and his offences usually are against property.
Topic Summary
A gene mutation is defined as any change in the DNA that is not as a result
of recombination. It may affect either the coding or regulatory parts of a
gene. The effect varies from mild to lethal and are expressed in the
phenotype.
Chromosome aberrations involve parts of individual chromosomes. The main

types are deletions, duplications, inversions and translocations. The
organism may tolerate their presence in its cells. However, where they occur
in gametes it could lead to non-viable gametes and therefore sterility.
Variations in chromosome number of a cell or an organism give rise to

monoploidy, heteroploidy or euploidy. A monoploid in a diploid organism
arises when when the organism is developed from a gamete. Heteroploidy
involves or addition to the normal complement of one or a few
chromosomes. Euploidy on the other hand involves addition of a whole set of
chromosomes and may involve chromosomes of one species or two closely
related species. All these changes have consequences on the performance of
the organism.
Further Reading

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(1) The Science of Genetics: An introduction to heredity. George W. Burns

(5/ed.)
(2) An Introduction to Genetic Analysis. D T Suzuki, A J F Griffiths, J H Miller

and R C Lewontin (3/ed).
Assignment
(1) How would you classify mutations?
(2) Given these two sequences from the same section of DNA: normal DNA
= A A T C A G G T T A, and mutant DNA = A T A C C A G T T A.
(a) Name the two point mutations.
(b) If the mutant strand is transcribed, write the mRNA sequence produced.
(c) How would the polypeptide produced from this mRNA differ from the
normal polypeptide.
(3) Mutations are (pick correct answer):
(a) caused by genetic recombination.
(b) heritable changes in genetic information.
(c) caused by faulty transcription of the gene DNA.
(d) usually but not always beneficial to the development of the organism in
which it occurs.
(4) define pericentric and paracentric inversions.
(5) describe how polyploids can be created.

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TOPIC NINE: HEREDITY AT MOLECULAR LEVEL
Introduction
Mendel described heredity as being caused by a pair of <factors=. He also

noted that one or the other of these factors could be dominant or recessive.
These 8factors9 were renamed genes by Wilhelm L. Johannsen in 1909.
Although Mendel9s principles of heredity were published in 1866, their
importance was not recognized until 1900. Thereafter there was great
interest in studying this discipline of biology. For instance, the application of
Mendel9s principles was invaluable in unraveling the mystery of the
hereditary nature of genes. Subsequent studies led to the birth of molecular
genetics.
In 1902, Sutton and Boveri showed the link between genes and
chromosomes (recall the chromosome theory of heredity=). We also learned
that chromosomes comprise DNA and protein.
At the molecular level, a gene is defined as <a segment= of nucleic acid

[deoxyribonucleic acid (DNA) or ribonucleic acid (RNA)]. These nucleic acids
carry instructions for the production of protein. A protein, as enzyme carries
out biochemical reactions in the cell and determines the phenotype of the
organism! In molecular heredity, we are therefore interested in
understanding how the information of the gene determines the phenotype of
the organism.
In this topic therefore, we shall learn how nucleic acids were identified and
confirmed as the molecules of heredity; how they replicate and shared
between daughter cells; and explore the path between the DNA and
phenotype (i.e. try to understand heredity at the molecular level).

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Topic Time
Considering the centrality and complexity of this topic in understanding the

molecular basis of heredity, a slow and progressive coverage is
recommended. Thus this topic is estimated to be covered in 4 lecture hours
i. State how DNA was identified as the compound of hereditary;
ii. Name and describe the two types of nucleic acids; give both their
physical and chemical structures;
iii. Distinguish between DNA and RNA;
iv. Name the possible modes of replication of DNA;
v. State what the Genetic code is, how it was developed and used to read
gene messages into amino acids sequences;
vi. Describe the process of protein synthesis.
Topic Content
9.1 Chemical Components of the Cells
Chemically, cells are principally made up of fats, carbohydrates, and

proteins. Of these, proteins are the most abundant, complex and diverse and
were initially and for a long period held as responsible for character diversity
in organisms.
Later, other compounds particularly, nucleic acids were isolated. These were
examined and subsequently confirmed as the material of heredity.
9.2 Nucleic Acids

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9.2.1 Isolation of nucleic acids
While Gregor Mendel was working in the Monastery garden in Austria to

identify the <particles= of heredity, in South Germany, about the same time
a Swiss Physician, Fredrick Miescher (1869) was examining nuclei of pus
cells to identify the molecule of heredity. He isolated the nuclei of pus cells
and found in them a phosphorus-rich material that he called nuclein. He
speculated that this material had a role in heredity.
Twenty years later, i.e. in 1889, some biochemists purified nuclein by

removing protein from it. They found it to be gummy and acidic and thus
renamed it nucleic acid. This acid was subsequently identified as
Deoxyribonucleic acid (DNA). Thereafter, another nucleic acid –
ribonucleic acid (RNA)- was identified. Molecular biologists, biochemists and
geneticists have established that these acids are the 8carriers of
hereditary information9. Today, these macromolecules are the basis of
life9s immense diversity.
Whereas DNA was isolated from pus cells (animal cells) and RNA from yeast
cells, it was for long erroneously held that DNA was the nucleic acid of
animals and RNA of plants. However, this mistaken belief was resolved by
Robert Feulgen. He found that both acids exist in animal and plant cells, DNA
in the nuclei and RNA in the cytoplasms. It was further established that
whereas DNA is associated directly with heredity, RNA plays an intermediate
role in protein synthesis. An exception exists though in some viruses like
TMV and a few other cancer -causing viruses where the hereditary material
is RNA.
9.2.2 Chemical structure
The basic unit of nucleic acid structure is the nucleotide. The nucleotide
is composed of three chemical parts that are joined by covalent bonds: a

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pentose sugar (deoxyribose in DNA and ribose in RNA); a nitrogenous base

of either a purine or a pyrimidine derivation, covalently bonded to the C1 of
the pentose sugar to form a nucleoside. In DNA, the purines are Adenine (A)
and Guanine (G) while the pyrimidines are cytosine (C) and Thymine (T).
The RNA contains same purine bases and the pyrimidine cytosine, but has
Uracil (U) replace T; and a phosphate group. In a nucleic acid polymer, this
group joins two nucleosides to each other by forming a phosphodiester
bridge between the C5 of one sugar moiety and the C3 of another.
The linking of many nucleotides, one after another in a series results in a

chain of polynucleotides. A polynucleotide has at one end an unreacted
phosphate group on the C5 of the sugar and at the other end an exposed
hydroxyl group on the C3 of the sugar. Thus a polynucleotide chain has a C3
and C5 end or is polarized.
9.3 DNA
With only a few exceptions, e.g. the red cells of human, every living cell
contains DNA. In a human somatic cell there are 46 molecules of DNA. It is
this DNA that bears coded instructions for the kinds of instructions which will
be made by the cell.
9.3.1 Chemical and Physical Structure
1. Chemical structure
Initially scientists did not consider DNA structure to be very complex since it
was merely a repeat of four nucleotides (i.e. a tetra nucleotide).
Chemical analysis of the molar content of the bases A, T, G, and C in DNA

samples obtained from several organisms by Chargaff (1949 –53) provided
the important fact that the amount of A equaled the amount of T, and of G
equaled that of C, i.e. A + G = T + C (purines = pyrimidines). Through

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these and other observations, Chargaff convinced the scientific world that
DNA had the chemical complexity necessary of genetic material.
2. Physical structure
Its study was not straightforward. The most important technique was x-ray
diffraction analysis (i.e., passing x-rays into a molecule). This provided
information about the arrangement and dimensions of various parts of the
molecule. This technique was used by Prof. M. Wilkins and others especially
his graduate student, Rosalind Franklin in 1940s.
Key observations:
(1) the molecule is helical,
(2) the bases of the nucleotides are stacked with their planes separated by a
spacing of 3.4 A (0.43nm)
(3) a complete turn which has 10 base pairs is 34A (3.4 nm)
(4) the diameter of the molecule is 20 A (2.0 nm).
On the basis of the evidences and knowledge of interatomic distances and

bond angles, James Watson (an American biologist) and Francis Crick (an
English biophysicist) in 1953 proceeded to construct the molecular structure
of DNA, i.e. a three-dimensional, double helical model. In genetics
discussion, one strand (chain) of this double helix is usually referred to as
Watson (W), and the other as Crick (C).
The backbone of the helix is a chain of sugars and phosphates alternating

with each other. The two chains of helix are of opposite polarity. If one chain
runs 39 to 59 direction, the other runs in 59 to 39 direction.
For unraveling the structure of DNA, Watson, Crick and Wilkins jointly
received the Nobel Prize in physiology and medicine of 1962.

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9.3.2 Replication of DNA
Using the UV microscope, it was found that during interphase, cells undergo
cyclic changes in respect of their nucleic acid content. This microscope
revealed that just before onset of mitosis the amount of DNA in the
prophase and metaphase chromosomes was twice the amount found
ordinarily. These findings indicated that during interphase prior to mitosis
not only do the chromosomes replicate but their genetic material, the DNA,
does likewise.
In fact, 5 years after the model of a DNA molecule had been proposed, two
Scientists Maurice Meselson and Frank Stahl showed that DNA replication is
semi- conservative. Each daughter DNA molecule will consist of one intact
(conserved) strand from the parental double-stranded helix and one newly
synthesised complementary strand. This occurs in a stepwise sequence:
a) the unwinding of the double-helix: this occurs by breaking the h-bonds

between the nucleotide bases; and
b) then the single DNA strands with their nucleotides sticking out on the
S-P backbone serve as moulds or templates on which newly complementary
DNA strands are constructed, following the rule of base-pairing.
In replacing the other strand, the freely available nucleotides pair with those
of the parent.
9.4 RNA
Ribonucleic acid (RNA) is the other nucleic acid that was first isolated in
yeast cells. It9s the material of heredity in some viruses otherwise it acts as
an intermediate molecule in the process of gene expression in eukaryotes
and therefore as central to the growth and function of cells as DNA. Its
function is to translate the genetic information stored in DNA to amino acid
sequences of proteins. Characteristically it is single-stranded. It folds on

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itself such that complementary bases occurring in the same strand but at
different places can pair by H-bonding, thus stabilising the folds of the
molecule. It is either genetic as in certain viruses, e.g. TMV, influenza and
poliomyelitis viruses, and phages or is non-genetic.
9.4.1 RNA Vs DNA.
The two nucleic acids differ in several basic chemical and structural ways,
namely:
a) Strand number: RNA - single stranded, DNA -double-stranded;
b) Sugar type: RNA nucleotide contains ribose sugar whereas DNA

nucleotide contains deoxyribose sugar;
c) N-bases: RNA: has the pyrimidine U instead of T and this pairs with
A.
d) Size: RNA molecules are generally much shorter than DNA molecules.
9.4.2 Non-genetic RNA
This exists as three types, ribosomal, messenger, and transfer.
a) Ribosomal RNA (rRNA): constitutes 80% of total cell RNA; is stable

and is a major component of ribosomes;
b) Messenger RNA (mRNA): represents 8-10% of total cell RNA.

Generally short-lived and functions as a carrier of the genetic information
from DNA to the ribosomal sites of protein synthesis in the cell cytoplasm.
Its structure is complementary to one of the strands of the DNA double
helix. Different mRNAs very greatly in sizes. Transcription of mRNA requires
an enzyme called DNA-directed RNA-polymerase;

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c) Soluble or transfer RNA (sRNA or tRNA): Constitutes 10-15% of cellular

RNA and is a stable component of the cell. It acts as an amino acid acceptor
and carries them from their pool to the site of protein synthesis. It is
comparatively small with only 80 nucleotides, is single-stranded and is
folded on itself due to base pairing in some parts and thus forms a clover-
leaf-like structure with one end (3-) having a C-C-A sequence and the other
(5-) with a G-. Each tRNA can bind a specific amino acid; recognize a codon
in the mRNA allowing it to place its amino acid in the correct position of the
growing polypeptide chain.
9.5 The Genetic Material
The genetic material of any organism is the substance that carries the
information determining the properties of the organism. Furthermore, it is
responsible for transferring the genetic information from parent to offspring.
In almost all organisms the genetic material is DNA.
9.5.1 Identification of DNA as the genetic material
The development of the current idea that DNA is the genetic material began
with an observation in 1928 by Fred Griffith on the transformation of R
(rough) cells of Streptococcus pneumoniae. It was followed 15 years later by
another study by Avery and colleagues. Further confirmation followed in
1952 by Hershey and Chase.
1. Transformation
Griffith used two strains of bacteria, one virulent and formed glistening
colonies on agar (called the S strain) and the other harmless and producing
rough colonies (R strain). Mixed dead S strain bacteria with live R strain
bacteria. Injected into mice, and the mice died. Autopsies showed that dead
mice were full of virulent living S strain bacteria. He concluded that living R
strain had been transformed by something from the dead S strain bacteria.

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2. Identifying the transforming principle
Oswald Avery, Colin MacLeod, and Maclyn McCarty discovered that it was the
DNA from the S strain bacteria that transformed the R strain bacteria. Thus
was demonstrated that DNA had an important role in transmitting heredity.
3. The great kitchen blender experiment by Hershey and Chase
Using labeled phages grown in radioactive phosphorus and sulphur, the

demonstrated that only the phage genome is injected into the bacteria (E.
coli) and not protein. Thus they too confirmed that DNA is the genetic
material.
9.6 The link between Genes and Proteins
Studies of gene structure and biological activities have provided convincing

evidence for a direct relationship between gene and protein. The result is the
fact that the amino acids sequence of each protein reflects the linear
sequence of the nucleotide-coding units of a gene. Thus each gene
determines a specific enzyme, or more exactly each gene specifies a
polypeptide which can fold into a protein unit, one or more of which may
form an active enzyme.
The English physician, A. Garrod was the first to suggest a specific

connection between genes and enzymes. In 1902, he described the case of a
disease, alkaptonuria. Normal individuals can metabolize homogentisic acid
to its breakdown products, but alkaptonurics cannot.
The work of Tatum and Beadle (1941) with bread mould, N. Crassa further
reinforced Garrod9s earlier observations, and together formed the
cornerstone of biochemical genetics. Beadle and Tatum then proposed the
one gene-one enzyme hypothesis: each gene specifies the synthesis of one

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enzyme. For this work, they jointly shared the 1958 Nobel Prize in
chemistry.
9.7 Messenger RNA and the Genetic Code
The genetic code is the way that mRNA specifies the amino acid
sequence of a protein. All work related to the genetic code was undertaken
by three scientists – H.G. Khorana, M. Nirenberg, and R. Holley.
Proteins contain 20 different amino acids whereas only 4 different

nucleotides are contained in the DNA molecule.
1. Four nucleotides versus 20 amino acids
(a) The number of nucleotides that code for an amino acid is termed a
codon;
(b) How many nucleotides would be required to position one amino acid into
protein?
(c) Consider the four nucleotides as four alphabetical letters, A, U, G and C.
(d) Also consider the 20 amino acids as a language of 20 words.
(1) Codons
(a) The simplest possible code is a singlet code (one nucleotide base coding
for one amino acid). This is not possible as such a code could code only up
to four amino acids. This would entail a codon coding for several amino acids
and therefore being ambiguous. As we know, this is not true for the genetic
code is non-ambiguous.
(b) A doublet code: each base occupies either position of a codon. In this
case, only 16 codons (4)2 would be possible. So only 16 amino acids would
be coded for.

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(c) Mathematically, therefore, a triplet code (i.e. three nucleotides coding

for one amino acid) is the smallest coding unit that can accommodate the 20
amino acids.
This will give (43 = 64) codons, more than needed to code for the 20 amino
acids.
With so many codons it is observed that several codons code the same
amino acid, i.e., the genetic code is degenerate.
The triplet code however includes also sense codons (i.e. those that specify
particular amino acids) and nonsense codons or terminators (those that do
not specify any amino. acids). Nonsense codons are: UAA, UAG and UGA
(stop) and AUG (start). Their inclusion in any mRNA results in the abrupt
termination of the message at the point of their location even though the
polypeptide chain has not been completed!
2. Cracking the genetic code
(a) the genetic code is triplet. So which codon codes for which amino acid?
In other words, what do the ATG or CAT codins in the DNA specify?
(b) the first codon was deciphered in 1961 and was for the amino acids
phenylalanine. The discovery was by two biochemists M.W. Nirenberg and
J.H. Matthaei in Washington. They discovered that the synthetic polyuridylic
mRNA U U U U …… coded for a protein that contained only the amino acid
phenylalanine. Here after, codes for the other amino acids were known, viz.
AAA = Lysine, CCC = proline, GGG = glycine.
Also discovered was the fact that more than one codon can code for an
amino acid, e.g. codons GUU, GUC, GUA and GUG code for Valine.

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This achievement came to be called the <Cracking of the genetic code= and
was one of the most brilliant achievements in the science of molecular
biology. The genetic code is as given below.
These studies thus revealed the characteristics of the genetic code, namely:
(1) Triplet in nature,
(2) Non-ambiguous under natural conditions, i.e. a codon cannot code

more than one amino acid,
(3) Degeneracy, i.e. more than one triplet can code for the same amino
acid,
(4) Universality, i.e. the same triplet codes for the same amino acids in
different organisms,
(5) No punctuations between codons, i.e. each codon is immediately

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adjacent to the next with no intervening <spacer= bases,
(6) Non- overlapping. Besides the evidence deduced from frame shifts, the
fact that amino acids residues appear to be arranged in completely

random sequences when the polypeptide chains are analyzed, further
proves the non-overlapping character of the codons.
(7) Co-linearity: The <sequence hypothesis= formulated in 1958 by Crick

and Watson states that <the amino acid sequence of a protein is
determined by the nucleotide sequence in a particular gene which
controls that protein, i.e. component units in the two molecules are co-
linear (i.e. correspond to each other).
9.8 Protein Synthesis
9.8.1 Transcription
The coded information in DNA is transcribed (copied) into the coded

sequence of the mRNA using one strand (the sense strand) of DNA as a
template. For this to happen, the DNA helix unwinds where it is to be copied
(i.e. at the gene whose product is required by the cell (or organism) at the
time0. A mRNA strand is synthesized in a complementary manner with the
exposed nucleotides on the sense strand. Base pairing is usually precise. The
bases A, C, G and T in DNA pair with U, C, G and A respectively in mRNA.
Once the mRNA strand (now called mRNA transcript) has been made, then it
exits the nucleus (in eukaryotic cells) into the cytoplasm of the cell.

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8.9.2 Translation
The information contained in mRNA is translated into a protein component

by incorporation of a specific amino acid in a polypeptide chain. Translation
involves the participation of all the RNAs, i.e. tRNA, rRNA and mRNA.
The mRNA moves from the nucleus to the cytoplasm, specifically to the
ribosomes, on which amino acids are collected. The amino acids are
synthesized in the cytoplasm and transported there by tRNA.
There, the message is unidirectionally read beginning at the 5- phosphate by

one or more ribosomes. The ribosomes serve as a binding site where mRNA
and tRNA interact.
According to the information of mRNA, the amino acids are selected and
linked together with peptide bonds forming a polypeptide chain, which is
then released into the cytoplasm. Usually several ribosomes run along the
mRNA, each contributing their amino acids for construction of a specific
protein molecule. If mRNA is very long, about 50 to 70 ribosomes can attach
and bind proteins at the same time. Polysomes provide a quick way of
making multiple copies of a given protein.
Steps of protein synthesis
These can be divided into three or four depending on whether one considers
attachment of an amino acid to its tRNA as part of the process of protein
synthesis.
(1) Aminoacylation
The attachment of an amino acid (a.a) to its tRNA molecule is mediated by a

specific enzyme in a process called activation or loading. There is at least
one unique species of tRNA for each of the 20 amino acids.

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Procedure:
(a) a.a + ATP + Enzyme Enzyme-bound aminoacyl adenylate +

pyrophosphate
(b) Enzyme bound amino acid adenylate + uncharged tRNA

charged tRNA + enzyme.
(2) Chain initiation
In the meantime, the ribosome attaches itself to mRNA at the 5- end. The
charged tRNA or the amino acid - tRNA complex attaches itself to the
ribosomes according to the information contained in the mRNA and aligns
the amino acid in a proper sequence.
(3) Chain elongation
The ribosome progressively moves towards the 3- end of the mRNA and this
movement is accompanied by progressive peptide linking of the amino acids
and release of uncharged tRNAs. The elongating polypeptide chains remain
attached to the mRNA - ribosome- tRNA complex until its synthesis is
complete. Fresh amino acids are added to the carboxyl end of a growing
polypeptide chain. Thus the mRNA grows from 5- to 3- direction and the
polypeptide chain grows from its amino end to the carboxyl end. As the
ribosome moves towards the 3- end of mRNA, the 5- end is exposed for
attachment of a fresh ribosome. Therefore, a number of ribosomes may be
simultaneously attached at different points along the length of the same
mRNA molecule, thus forming a polyribosome. This will result into a number
of incomplete polypeptides of different lengths at different stages of
sequential polymerization, being attached to a mRNA - ribosome complex at
a given time.

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(4) Termination
Stop codons do not code for amino acids, and there are no tRNA anticodons
for stop codons. Once encountered by the ribosome, polypeptide synthesis is
terminated, and the polypeptide, mRNA and tRNA are released from the
ribosome.
Rates of protein synthesis vary in organisms, being 15-20 amino acids/sec in

prokaryotes and 2-10 amino acids/sec in eukaryotes.
Topic Summary
For long since the acceptance of Mendel9s principles as the basis of heredity,
scientists believed proteins were the molecule of heredity. However, by 1952
the nucleic acid DNA had been confirmed as the right molecule. Also by
1953, the physical structure of a DNA molecule had been demonstrated as
double helical with each strand able to act as a template in production of
more DNA molecules. To understand how a gene expresses the trait it is
associated with, it is necessary to understand the mechanism of gene
expression (transcription and translation).
Further reading
(1) Mary Jones and Geoff Jones. Advanced Biology (/1e), Chap. 5.
(2) David T. Suzuki, Anthony J.F. Griffiths, Jeffrey H. Miller and Richard C.
Lewontin. An Introduction to Genetic Analysis (3/e). Chaps 10 -12.
Assignment
As part of understanding of this topic, attempt the following questions. You

need not submit your working. However, if you do not understand any
question, feel free to ask the lecturer.

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Q1. List the experiments that led to identification of DNA as the material of
heredity;
Q2. Name three differences between DNA and RNA nucleic acids
Q3. A part of the DNA sense strand comprises the bases A C C G A C.

What will be:
(a) Bases on the antisense strand?

(b) The mRNA arising from transcribing this strand?
(c) The peptide chain made?
Q4. How is an amino acid prepared for translation into a component of
protein?
Q5. Explain the semi conservative mode of DNA replication.

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TOPIC TEN: POPULATION GENETICS
Introduction
As indicated in the general introduction to this course, General Genetics
covers five key areas of genetics including population genetics. Thus, this is
the last topic of this course whose coverage will have inducted you wholly
into the science of genetics!
Topic Time
This topic involves a lot of formulae and calculations. Also, some aspects of
it are in direct contrast to Mendelian genetics. A slow, calculated approach is
advised and therefore, it may need at least four lecture hours.

After successful completion of this topic, you should be able to:
i. Define the terms: population, allele frequency, genotype frequency,
genetic equilibrium, gene pool;
ii. State the Hardy-Weinberg law, describe its equation and prove the
essence of equilibrium state;
iii. List those factors that will lead to non-realization of the Hardy-
Weinberg equilibrium
iv. Differentiate disruptive from directional factors as they affect the
Hardy-Weinberg law;
v. Solve genetic problems in this topic
Topic Content

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10.1 Introduction to the Topic

The early 1900s saw the development of an understanding of the
mechanisms of inheritance and the demonstration of the physical and
chemical basis for the passing on and production of characteristics. In this
topic we shall look at how populations change with regards to genes
conditioning individual traits. Population genetics enables us to learn
heredity in groups of individuals (i.e. populations). Therefore, there is a shift
from the individual and/or the cell to a Mendelian population, the focus being
the gene pool rather than genotypes of individual members of a Mendelian
population.
10.2 Inheritance in Populations

The genetics we have so far studied dealt generally with single pairs of
parents of known genotypes and types of offspring that could arise from the
mating of these pairs. On the basis of that information one could predict the
probability of getting each of the possible types of offspring. This is classified
as objective reasoning and is restricted.
However, other equally more important problems in genetics concern the
relative frequencies of contrasting traits in an entire relative population of
individuals. In such problems the geneticist desires to measure the
distribution of specific alleles (e.g. those of a particular heritable trait, e.g.
height- T and t) in the whole population. Such a population will obviously
have individuals of genotype TT, Tt and tt.
If there was no selective advantage for either of these genotypes, the
frequency of these alleles in successive generations of individuals would not
change.
As long as individuals with each of these genotypes are just as likely to mate
and have offspring as individuals with other genotypes, the three genotypes

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will be present in succeeding generations in the same proportions as in the

initial generation.
However, populations are dynamic and change often, e.g. of size by
expansion or decline. Such variations could arise due to birth rates, disease,
migration and climate.
Thus population genetics examines the behavior (or frequency) of alleles of
any trait in populations and the conditions under which those alleles remain
in equilibrium or change. The conditions that could cause changes include:
mutation, selection, nonrandom mating (particularly inbreeding), small
population, and migration. These conditions are known to cause evolutionary
changes.
Consequently, a population geneticist usually is interested in the amount of
variability within a population and in the way genes change during evolution.
10.3 Definitions
(1) Population: to a population geneticist, a population a group of
interbreeding individuals of the same species that inhabit the same space at
the same time;
(2) Gene pool: This is the sum total of all alleles carried in all members of a
population;
(3) Phenotype frequency: This is the proportion of individuals in a given
population that are of a particular phenotype;
(4) Genotype frequency: This is the proportion of individuals in a population
that are of a particular genotype;
(5) Allele frequency: This is the proportion of all copies of a gene in a
population that are of a given allele type;

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10.4 The Hardy-Weinberg Law

In 1902, G. U. Yule and other biologists (all strong critics of Mendelism)
pointed out an apparent conflict between Mendelian ratios (e.g. 3:1) and
their observed frequencies within given populations. Why, if the trait is
dominant is it not found in three-fourths of the population, or if recessive, is
it not one-fourth per generation – leading eventually to every individual
having the dominant trait?
In 1908, the mathematician Godfrey H. Hardy in England and the physician
W. Weinberg in Germany independently developed a quantitative theory for
defining the genetic structure of populations. Thus they explained that the
relative frequencies of genes affecting any trait are quite independent of
Mendelian ratios and remain fixed within certain limits, during successive
generations.
Hardy was an eminent British mathematician at Cambridge university and a
friend of R.C. Punnett, a Mendelian geneticist. They discussed the
inheritance of an affliction, brachydactyly (having exceedingly short toes and
fingers) among the English populace. Hardy showed that <the relative
number of people with normal fingers and people with short fingers ought to
stay the same for generation after generation, as long as there were no
outside forces, e.g. natural selection, to change them.
About the same time in Germany, Weinberg, a physician published his works
on the relationship between allele frequencies and genotype frequencies.
The independent ideas of these two scientists thus came to be called the
<Hardy-Weinberg law (principle). This law provides a basic algebraic
formula (model) for describing the expected frequencies of various
genotypes in a population.
This law states <In a random mating population (i.e. one in which each
male gamete has an equal chance of mating with any female
gamete), and in the absence of any disturbing factors (migration,

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selection, mutation, genetic drift, etc.), the relative frequency of a

gene remains constant generation after generation; also, the
frequencies of the different genotypes remain constant after
equilibrium has been reached following one generation of random
mating=.
Illustration
Table 10.1 Algebraic proof of genetic equilibrium in a randomly mating population for 2
alleles in a population in which (p + q)2 = p2 + 2pq + q2 = 1.00
Type of mating Mating Progeny frequencies
Male Female frequency AA Aa aa
p2 AA p2 AA p4 p4 - -
P2 AA 2pq Aa 4p3q 2p2q 2p2q -
2
2pq Aa p AA
P2 AA q2 aa 2p2q2 - 2p2q2 -
q2 aa p2 AA
2pq Aa 2pq Aa 4p2q2 p2q2 2p2q2 p2q2
2pq Aa q2 aa 4pq3 - 2pq3 2pq3
q2 aa 2pq Aa
q2 aa q2 aa q4 - - q4
___________________________________________________________________
Totals (p2 + 2pq + q2)2
Progeny totals AA = p2 (p2 + 2pq + q2)2 = p2
Aa = 2pq (p2 + 2pq + q2) = 2pq
aa = q2(p2 + 2pq + q2) = q2
___________________________________________________________________
Genotype frequencies = (p + q)2 = p2 + 2pq + q2 = 1.0 in each generation afterward
Gene (allele) frequencies = p (A) + q(a) = 1.0 in each generation afterward.
________________________________________________________

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Table 10.2 The offspring of the random-mating of a population composed of ¼ AA, ½ Aa

and ¼ aa individuals
Type of mating Progeny frequencies
Male Female Mating Frequency AA Aa aa
AA AA ¼x¼ 1/16 - -
AA Aa ¼x½ 1/16 1/16 -
AA aa ¼x¼ - 1/16 -
Aa AA ½x¼ 1/16 1/16 -

Aa Aa ½x½ 1/16 1/8 1/16
Aa aa ½x¼ - 1/16 1/16
aa AA ¼x¼ - 1/16 -
aa Aa ¼x½ - 1/16 1/16
aa aa ¼x¼ - - 1/16
Total: 4/16 8/16 4/16
=================================================
10.5 Determining Allele and Genotype Frequencies
10.5.1 Autosomal locus in a diploid, sexually reproducing population

Let us use a population of N individuals and in this population focus on one
gene, A and its allele a. In this population therefore there will be individuals
of AA, Aa, and aa genotypes. Assume that the number of AA individuals is D;
Aa is H and aa is R. Therefore, D, H and R represent the genotype
proportions in the population.
Since each individual has two alleles per locus, there will be 2N alleles in this
sample population.
Therefore,
(1) The number of:
(i) allele A = 2D + H, and
(ii) allele a = 2R + H.

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(2) The frequency of:

(i) allele A = (2D + H) / 2N, and
(ii) allele a = (2R + H) / 2N.
Let us designate these frequencies as p and q, respectively. Because the
sum of p and q represents 100% of the alleles for that gene in a population,
then p + q = 1.0.
In the combination of gametes that produce the next generation, the
distribution of genotypes in the next generation is p2 + 2pq + q2 = 1.0.
These frequencies are the terms in the expansion of the binomial expression
(p + q)2. This equation is the basis of the Hardy-Weinberg principle law (or
equilibrium).
Worked out examples
Example 1.
Consider, say the 8B9 locus for a population of 8 individuals (4 male, 4
female). Each individual is heterozygous. The population contains 2 allelic
forms of the gene (i.e. B and b). If the individuals pair randomly and mate,
each pair producing 100 living individuals, what will be the numbers of each
genotype in the population after reproduction?
Solution
Each pair (Bb x Bb) will produce 25 BB: 50 Bb: 25 bb. After reproduction
there will be a total of 100 BB: 208 Bb: 100 bb (including the parents).
In the original population there were 8 B alleles and 8 b alleles. Thus,
proportion of B alleles = (8/16) x 100% = 50%, and of b alleles = (8/16) x
100% = 50%.
In the next population, % B alleles = (408/816) x 100% = 50% and for b =
50%.

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Based on allele percentages alone the population appears to be unchanged
Example 2.
An isolated, interbreeding plant population comprised the following
individuals, 50TT, 40Tt and 10tt. What are its allelic frequencies now and in
the successive generations?
Solution
Freq. of p (i.e. T allele) = (2D + H)/2N = (100 + 40)/200 = 0.70;
Freq. of q (i.e. t allele) = (2R + H) / 2N = (20 + 40) /200 = 0.30
This observation means that 30% of all alleles in the population for the 8T9
locus is t and 70% is T.
After random mating, the first generation (i.e. F1) progeny of genotypes TT,
Tt and tt = 49: 42:9. These will arise as follows:
TT = p2 = (0.7)2 = 0.49
Tt = 2pq = 2(0.7 x 0.3) = 0.42, and
tt = q2 = (0.3)2 = 0.09
Total = 1.00
If this population (F1) still also comprised 100 plants, there will be:
TT = 0.49 x 100 = 49 plants,
Tt = 0.42 x 100 = 42 plants, and
tt = 0.09 x 100 = 9 plants
Thus the frequencies of various genotypes will be different in F1 compared to
parent population. However, there will be no change in the frequencies of
the different alleles.
In the F1 population, the allelic frequencies are: Allele T (p) = (49 x 2) +
42 / 200 = 140/200 = 0.7, and of t (q) = 1.0 – 0.7 = 0.3. Thus the allelic
frequencies remain constant generation after generation.

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As for genotype frequencies, these will differ between the Parental and F1
generations but thereafter; there will be no change.
Such a population is therefore described as being at Hardy-Weinberg
equilibrium.
Such a status quo holds under the following conditions:
(1) Mating occurs entirely at random, i.e. there is an equal probability
that any individual will mate with any other individual;
(2) The population includes a very large, virtually infinite, number of
individuals.
(3) There are no genotype-dependent differences in the ability to
survive to reproductive age and transmit genes to the next generation.
(4) No mutation takes place. If it does, the mutation rate of the two
alleles is the same.
(5) There is no migration into or out of the population.
Stability of gene frequencies and maintenance of gene equilibrium is the

essence of the Hardy-Weinberg law and is the foundation stone of population
genetics.
However, if the gene and genotypic frequencies are maintained from
generation to generation, there will be no evolution and the population will
become static. The process of evolution makes a population dynamic and
this necessitates a disturbance in the gene and genotype equilibrium.
The forces that disturb this equilibrium are: mutation, selection, non-random
mating and migration (or genetic drift and gene flow).
Example 3.
Can we turn the Hardy-Weinberg equation around and use it to predict allele
frequencies from genotype frequencies? For instance, in the USA, the

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incidence of a genetic disorder PKU is about 0.0001 (i.e. 1 person in

10,000). Can we predict the frequency of the mutant allele?
Solution
Yes. In the Hardy-Weinberg equation (p2 + 2pq + q2 = 1.0), q2 represents
the recessive genotype frequency. Thus, q2 = 1/10,000 = 0.0001.
Therefore, the frequency of the recessive allele, q = 0.0001 or 0.01, i.e.
1% of the alleles in the population are estimated to be mutant. The carriers
(2pq) = 2(0.99 x 0.1) = 0.019, i.e. about 2% of the population are predicted
as carriers of the mutant allele.
10.5.2 Multiple-allelic autosomal locus

The procedure used for calculating the allele or diploid genotype frequency in
a population gene pool is not restricted to a single-gene, two-allele system.
(1) Both complete and codominance occur:
For genes such as the ABO blood type, three alleles of the <I=
(isoagglutinnin) locus are present in the population. The Hardy-Weinberg
genotype proportions are obtained by expanding a multinomial expression,
(a + b)n.
We know IA = IB, i.e. they are co-dominant. However, both are dominant to
IO (i). Suppose IA = p, IB = q, and Io = r, then p + q + r = 1.0. Following
random mating, i.e. (p + q + r) 2, genotype frequencies are:
Phenotype Genotypes Frequencies
A IAIA p2
IAIo 2pr
B IBIB q2
IBIo 2qr

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AB IAIB 2pq
O IOIO r2
To determine allelic frequencies of IA, IB, and IO, we need to know genotype
frequencies, i.e. the proportions of the different blood groups in a given
sample. These proportions are designated as fO, fA and fB for O, A and B
blood groups, respectively.
From such proportions, allelic frequencies are calculated thus:
r = f(IO) =  fO,
p = f(IA) = 1-  fB + fO,
q = f(IB) = 1-  fA + fO
Worked out examples

Example 1
A blood survey of a village revealed the following distribution of blood
types among the people: blood group A = 0.45; type B = 0.13; AB = 0.06
and O = 0.36. Calculate allelic frequencies of IA, IB and IO as p, q, and r
respectively.
Solution
Start by determining the allelic frequency of IO, i.e. frequency of r.
Given r2 = 0.36,
r =  0.36
= 0.6
p = 1 – fB + fO
= 1-  0.13 + 0.36
= 1.0 – 0.7
= 0.3

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q = 1.0 – 0.6 – 0.3

= 0.1
Example 2
In a population of 2,000 Caucasians, the phenotypic blood type frequencies
are: type O, 49%; type A, 36%; type B, 12% and type AB, 3%. What are
the frequencies of the IA, IB, and IO alleles in this population? What
proportion of the A type are possibly homozygous?
Solution
(a) Allele frequencies
(i) Freq. of allele IO =  fO =  0.49 = 0.7 --------------------- = r
(ii) Freq. of allele IB = 1 -  fA + fO
= 1 -  0.36 + 0.49
= 0.08 ----------------------------------------- = q
(iii) Freq. of allele IA = 1 -  fB + fO
= 1 -  0.12 + 0.49
= 0.22 ------------------------------------------- = p
(b) Group A has genotype frequencies p2 and 2pr
p2 = IAIA = (0.22)2 = 0.048
2pr = IAIO = 2(0.22 x 0.0.7) = 0.308
= 0.356
These results mean that the frequency of IA allele in the population, i.e. 712
people (or 356 x 2) carry the IA allele. Of them, 48 / 356 = 96 (or 13.5%)
are homozygous, IAIA.
(2) All alleles are of equal dominance (or recessiveness)

If the locus alleles do not show codominance say, among two of the three
alleles, the procedure is varied as below:

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Example 3
A population of 274 individuals comprises the following numbers of
genotypes: AA = 4; AB = 41; BB = 84; AC = 25; BC = 88; CC = 32.
Allele frequencies are determined as follows:
f (A) = p = [(2 x 4) + 41 + 25] / (2 x 274) = 0.135
f (B) = q = [(2 x 84) + 41 + 88] / (2 x 274) = 0.542
f (C) = r = [ (2 x 32) + 88 + 25] / (2 x 274) = 0.323
We can use the same procedure for calculating gene (or allele) frequencies
when four or more alleles are present.
10.5.3 Sex-linked traits

When the gene under study is x-linked, we only need to count the different
alleles in males. For example, in a sample of 200 men, 24 have x-linked
color blindness and all the others have normal color vision.
Assuming that each color blind man is hemizygous for the same mutant
allele, we estimate the frequency of that allele to be 24 / 200 = 0.12, and
the frequency of the normal allele to be 1 – 0.12 = 0.88. Therefore, under
the assumptions of random mating and equal allele frequencies in the two
sexes, we have:
Sex Genotype Frequency Phenotype
Males C p = 0.88 normal vision
c q = 0.12 colorblind
Females CC p2 = 0.77 normal vision
Cc 2pq = 0.21 normal vision
cc q2 = 0.02 colorblind

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Topic Summary
The behavior of genes at population level is different from the expectation of
that a single gene in two individuals. Thus population genetics describes the
variations that can occur to a gene frequency in a population and how this
can affect genotypes distribution in a population. However, populations are
not static and changes within them due to evolutionary factors can affect
both gene and genotypic frequencies.
Further Reading
(1) Genetics (3/e) by Peter J. Russell
(2) Science of Genetics (5/e) by George W. Burns
Assignment
Attempt the following question to gauge your understanding of the topic.
Any challenge you may experience should be referred to course author.
(1) A population has 8 times as many heterozygotes as homozygous

recessive. What is the frequency of the recessive gene?
(2) The following blood type data were collected in a sample of 700
individuals.
Blood type # individuals.
A 326
B 20
AB 16
O 33
Estimate the frequencies of the IA, IB, and IO alleles from this sample.

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(3) Ability or inability to taste phenylthiocarbamide (PTC) is a heritable

trait is a heritable trait with tasters being dominant and non-tasters
recessive. From a group of 228 University students invited to taste PTC,
160 were tasters and 68 non-tasters. What are the relative allele
frequencies of T and t?
(4) Albinism is caused by a rare recessive mutation and occurs with a

frequency of 1:20,000 persons. Given this fact, calculate the frequency of
the recessive and normal alleles and the genotypic frequencies at
equilibrium.
(5) A parental population of 100 plants is made up as follows: 20 AA,
20Aa and 60 aa.
(a) Determine the allelic frequencies in this population and at
equilibrium.
(b) Do these predictions fit with the original data from which the two
allele frequencies were estimated?
(6) A sample of 208 Eskimos was tested for the MN blood types. The
following data was obtained: 119 group M, 76 MN and 13 N.
What are frequencies of the alleles LM and LN in this population?
What will be the genotype frequencies at equilibrium?
(7) An animal scientist was attracted to a flower garden by flitting

butterflies. He took a count based on flower color. These were his
observations:
490 AA (dark blue), 420 Aa (medium blue), and 90 aa (white wings). Is
this population in genetic equilibrium?

lOMoARcPSD|18137476
(8) Among 237 Indians, the gene frequencies of IO, IA and IB blood alleles
were 0.96; 0.03, and 0.01. Calculate the gene frequencies of individuals with
O, A, B and AB type blood.

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BOTA 111 General Genetics elearning materials

Basic Biochemistry (Egerton University)

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BOTA 111: GENERAL GENETICS

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BOTA 111: GENERAL GENETICS

Is this course for you?

Introduction to the course

Genetics is about biological heredity and variation in individuals of common

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Topic 1: Introduction to genetics

Topic 2: Chromosomes and Genes

Topic 3: Cell Divisions (mitosis and meiosis)

Topic 4: Mendelian Genetics

Topic 5: Statistics application in genetics

Topic 6: Quantitative genetics

Topic 7: Sex determination and inheritance

Topic 8: Mutations (gene and chromosome)

Topic 9: Molecular heredity

Topic 10: Population genetics

Course learning outcomes

After successful completion of this course, you should be able to:

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4. Describe Mendelian studies of heredity leading to understanding of

Course Study Skills

As an adult learner your approach to learning will be different to that from

Essentially you will be taking control of your learning environment. As a

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My office is located in the Department of Biological Sciences (Annex), Faculty

Assignments/Activities are provided at the end of each topic. Some

Course Learning Requirements

 Timely submission of practical write-ups (15%)

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Self-assessments are provided in order to aid your understanding of the

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TOPIC 1. INTRODUCTION TO GENETICS

As an introductory topic to General Genetics, its imperative that students

After successfully completing this topic, you should be able to:

(1) Explain the basic concepts of the science of genetics;

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(2) Define most of the common terms encountered in genetics, such as

(3) Outline the historical evolution of genetics to the present times;

(4) Enumerate and discuss practical benefits and applications of genetics

(5) Answer any questions relevant to this topic.

1.1 Learning Genetics

In the surrounding you live in, different groups of organisms – human

The science of genetics is about the operating mechanisms of heredity

1) Understand humanity – our origin, uniqueness or individuality, abilities,

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