Cls 12 Notes Chapter 5 Part 3

Notes Chapter-5 Principles of Inheritance and Variation (03)
1. How does a chromosomal disorder differ from a Mendelian disorder?

Ans.
Chromosomal Disorder Mendelian Disorder
1.This disorder is mainly due to 1. This disorder is caused due to
alteration or mutation in the single absence or excess or abnormal
gene. arrangement of one or more
chromosomes.
2.This follows Mendel’s principles of 2. This does not follow Mendel’s
inheritance principles of inheritance
3.This may be recessive or dominant 3.This is always dominant in nature
in nature
4.For example:Sickle cell anaemia, 4. For example: Turner’s syndrome,
Heamophilia Down’s syndrome
2. Why is Haemophilia generally observed in human males? Explain the

conditions under which a human female can be haemophilic.
Ans. Hemophilia is caused due to recessive gene on X-chromosome. Y
chromosome has no allele of this. If a male has Xh Y, he is haemophilic. If
male inherits Xh from mother, he is haemophilic. If female inherits Xh Xh,
one from carrier mother and one from her haemophilic father then she is
haemophilic.
3. Write the symptoms of haemophilia and sickle cell anaemia in humans.
Explain how inheritance pattern of the two diseases differs from each
other.
Ans. Symptoms of Haemophilia: Patient continues to bleed through minor
cut as the patient does not possess natural phenomenon of blood clotting.
Symptoms of Sickle cell anaemia: Erythrocytes lose their circular shape and
become sickle shaped. As a result, the cells cannot pass through narrow
capillaries. Blood capillaries are clogged and thus affect blood supply to
various organs.
Haemophilia Sickle cell anaemia
1.It is sex-linked trait 1.It is autosomal recessive trait
2. The gene for haemophilia is 2.The disease is controlled by a
located on X-chromosome single pair of allele HbA and HbS
3.More males suffer from 3.Only homozygous individual
haemophilia than female because in HbS HbS show the diseased
males only single gene for the phenotype.
defect is able to express. Female
suffer from this disease only in
homozygous condition.
4.The defective allele produce non- 4.Due to point mutation Glutamic
functional protein which later form acid is replaced by Valine at sixth
non-functional cascade of protein positions of beta globin chain of
involved in blood clotting. haemoglobin molecule.
4. State the cause and symptoms of colour blindness. Why human males
suffer from this disease and females are mostly carriers?
Ans. Colour blindness is a sex-linked recessive trait. Its symptoms are
failure to discriminate between red and green colour.
Since male has only one X-chromosome, hence one gene for colour
blindness. Only one gene for the disease is able to express whereas in female
it will be expressed only if it is present on both X chromosomes or when
both parents are carrying gene for colour blindness. It occurs in 8% males
and 0.4% females.
5. Explain sex determination in honeybee.
OR
Why is it said that in honeybee they, neither have fathers nor sons but have
grandfathers and grandsons?
Ans. Sex Determination in Honeybee
-Honeybee show haplodiploid sex-determination system.
-Offsprings formed from union of a sperm and an egg develops as a female
(queen or worker), which are diploid, having 32 chromosomes.
- Unfertilised eggs developed by parthenogenesis form male (drone), which
are haploid having 16 chromosomes.
-Males produce sperms by mitosis, so they, neither have fathers nor sons but
have grandfathers and grandsons.
6. Write the type and location of gene causing thalassemia in humans. State
the cause and symptoms of the disease.
Ans. Thalassemia- It is an autosome-linked recessive disease.
-It occurs due to either mutation or deletion resulting in reduced rate of
synthesis of one of globin chains of haemoglobin.
- Anaemia is the characteristic of this disease.
- Thalassemia is classified into two types:
i) α-thalassemia—Production of α-globin chain is affected. It is controlled
by the closely linked genes HbA1 and HbA2 on chromosome 16. It occurs
due to mutation or deletion of one or more of the four genes.
ii) β-thalassemia—Production of β-globin chain is affected. It occurs due to
mutation of one or both HbB genes on chromosome 11.
7. What is pleiotropy? Explain the phenomenon with an example of

phenylketonuria.
OR
Phenylketonuria is a good example of pleiotropy. Justify.
Ans. Pleiotropy-It is the phenomenon in which a single gene exhibits
multiple phenotypic expressions.
-The pleiotropic gene affects the metabolic pathways, resulting in different
phenotypes.
For example, phenylketonuria is caused by mutation in the gene, coding for
the enzyme phenylalanine hydroxylase. The affected individuals show
mental retardation as well as reduction in hair and skin pigmentation.
8. What is polygenic inheritance? Explain with the help of suitable

example.
Ans. Polygenic Inheritance- It is a type of inheritance, in which a trait is
controlled by three or more genes. Such traits are called polygenic traits.
- The phenotype reflects contribution of each allele and is also influenced by
the environment.
- For example, human skin colour. Suppose 3 genes A, B and C control
skin colour with A, B, C being the dominant alleles and a, b, c being the
recessive alleles. Then, the F2 generation will have varied skin tones, with
each type of allele in the genotype determining the darkness or lightness of
the skin.
9. What are chromosomal disorders? Mention the different types of

chromosomal disorders.
Ans. Chromosomal disorders are caused due to excess, absence or abnormal
arrangement of one or more chromosomes. It can be classified as-
i)Aneuploidy: Sometimes the chromatids fail to segregate during cell
division, resulting in gain or loss of a chromosome. This is called
aneuploidy. It is of two types:
(a) Trisomy: Additional copy of a chromosome in an individual, i.e., (2n+1).
(b) Monosomy: Lack of copy of a chromosome in an individual, i.e., (2n –
1).
ii)Polyploidy: Failure of cytokinesis after telophase stage of cell division
results in an increase in whole set of chromosomes in an organism. It is
called polyploidy. It is often seen in plants.
10. Mention the cause, symptoms of Down’s syndrome, Klinefelter’s

syndrome and Turner’s syndrome.
Ans. (i) Down’s syndrome
Cause: Additional copy of chromosome number 21 or trisomy of
chromosome 21.
Symptoms:
(i) Short statured with small round head.
(ii) Partially open mouth with protruding furrowed tongue.
(iii) Palm is broad with characteristic palm crease.
(iv) Physical, psychomotor and mental development retarded.
(ii) Klinefelter’s syndrome
Cause: Presence of an additional copy of X chromosome resulting in the

karyotype 44+XXY. i.e., 47 chromosomes.
Symptoms:
(i) Sex of the individual is masculine but possess feminine characters.
(ii) Gynaecomastia, i.e., development of breasts.
(iii) Poor beard growth and often sterile.
(iv) Feminine pitched voice.
(v) They are sterile.
(vi) Tall stature.
(iii) Turner’s syndrome
Cause: Absence of one of the X chromosomes, resulting in the karyotype

44+XO i.e., have 45 chromosomes.
Symptoms:
(i) Sterile female with rudimentary ovaries.
(ii) Lack of other secondary sexual characters.
(iii) Underdeveloped feminine characters.
(iv) Poor development of breasts.
(v) Short stature, small uterus, puffy fingers.

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Notes Chapter-5 Principles of Inheritance and Variation (03)

1. How does a chromosomal disorder differ from a Mendelian disorder?

2. Why is Haemophilia generally observed in human males? Explain the

7. What is pleiotropy? Explain the phenomenon with an example of

8. What is polygenic inheritance? Explain with the help of suitable

9. What are chromosomal disorders? Mention the different types of

10. Mention the cause, symptoms of Down’s syndrome, Klinefelter’s

(ii) Klinefelter’s syndrome

Cause: Presence of an additional copy of X chromosome resulting in the

(iii) Turner’s syndrome

Cause: Absence of one of the X chromosomes, resulting in the karyotype

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