CBSE Class 12 Biology

NCERT Exemplar Solutions

CHAPTER 5
PRINCIPLE OF INHERITANCE AND VARIATION

Multiple Choice Questions (MCQs)

1. All genes located on the same chromosome:

(a) Form different groups depending upon their relative distance

(b) Form one linkage group

(c) Will not from any linkage groups

(d) Form interactive groups that affect the phenotype

Ans. (b) Form one linkage group

Explanation: Morgan showed that genes located on the same chromosome formed one
linkage group. But linkage or no linkage depends on proximity of two genes. Genes which
are closer show more likelihood of linkage. Hence, option ‘b’ is correct.

2. Conditions of a karyotype 2n ± 1 and 2n ± 2 are called:

(a) Aneuploidy

(b) Polyploidy

(c) Allopolyploidy

(d) Monosomy

Ans. (a) Aneuploidy

Explanation: Failure of segregation of chromatids during cell division cycle results in gain
or loss of chromosome. This condition is called aneuploidy
3. Distance between the genes and percentage of recombination shows:

(a) a direct relationship

(b) an inverse relationship

(c) a parallel relationship

(d) no relationship

Ans. (b) an inverse relationship

Explanation: Chances of recombination decreases with increased distance between genes.

Hence there is an inverse relationship between the two.

4. If a genetic disease is transferred from a phenotypically normal but carrier female to

only some of the male progeny, the disease is:

(a) Autosomal dominant

(b) Autosomal recessive

(c) Sex-linked dominant

(d) Sex-linked recessive

Ans. (d) Sex-linked recessive

Explanation: In this case, the defective gene is present on the X-chromosome but the disease
is manifested in men and women are carriers. So, it is a sex-linked recessive disease.
Haemophilia is one example and is also referred to as X-linked recessive disease.

5. In sickle cell anaemia glutamic acid is replaced by valine. Which one of the following
triplets codes for valine?

(a) G G G

(b) A A G
(c) G A A

(d) G U G

Ans. (d) G U G

Explanation: The substitution of amino acid in the globin protein results due to the single
base substitution at the sixth codon of the beta globin gene from GAG to GUG. Condon GUG
codes for valine which results in sickle cell anaemia.

6. Person having genotype IA IB would show the blood group as AB. This is because of:

(a) Pleiotropy

(b) Co-dominance

(c) Segregation

(d) Incomplete dominance

Ans. (b) Co-dominance

Explanation: When F1 generation resembles both parents, this is called co-dominance. This

is often seen in ABO blood grouping. Since both A and B sugars are dominant, hence it results
in AB blood group.

7. ZZ / ZW type of sex determination is seen in:

(a) Platypus

(b) Snails

(c) Cockroach

(d) Peacock

Ans. (d) Peacock

Explanation: This type of sex determination is seen in birds. The female has a ZW
combination while the male has ZZ combination.

8. A cross between two tall plants resulted in offspring having few dwarf plants. What
would be the genotypes of both the parents?

(a) TT and Tt

(b) Tt and Tt

(c) TT and TT

(d) Tt and tt

Ans. (b) Tt and Tt

Explanation: In case of TT and Tt; all offspring would be tall (TT, Tt). In case of option ‘c’ no
gene for dwarf is present, so all offspring will be tall. In case of option ‘d’ one of the parent
plant is dwarf, so it is incorrect. In case of option ‘b’ most of the offspring will be tall and a
few will be dwarf (TT, Tt, tt). Option ‘b’ is the correct answer.

9. In a dihybrid cross, if you get 9:3:3:1 ratio it denotes that:

(a) The alleles of two genes are interacting with each other

(b) It is a multigenic inheritance

(c) It is a case of multiple allelism

(d) The alleles of two genes are segregating independently.

Ans. (d) The alleles of two genes are segregating independently.

Explanation: This shows the perfect dihybrid ratio according to Mendel. Hence, the alleles of
two genes are segregating independently.

10. Which of the following will not result in variations among siblings?

(a) Independent assortment of genes

(b) Crossing over

(c) Linkage

(d) Mutation

Ans. (c) Linkage

Explanation: Linkage happens in all cases whenever two genes are located on the same
chromosome and are close to each other. Thus, linkage has nothing to do with variation.

11. Mendel’s Law of independent assortment holds good for genes situated on the:

(a) non-homologous chromosomes

(b) homologous chromosomes

(c) extra nuclear genetic element

(d) same chromosome

Ans. (a) non-homologous chromosomes

Explanation: Independent assortment cannot take place in case of options (b), (c) and (d).

12. Occasionally, a single gene may express more than one effect. The phenomenon is
called:

(a) multiple allelism

(b) mosaicism

(c) pleiotropy

(d) polygeny

Ans. (c) pleiotropy

Explanation: (c) pleiotropy

13. In a certain taxon of insects some have 17 chromosomes and the others have 18
chromosomes. The 17 and 18 chromosome-bearing organisms are:

(a) males and females, respectively

(b) females and males, respectively

(c) all males

(d) all females

Ans. (a) males and females, respectively

Explanation: XO type of sex determination is seen in these insects. In such cases, the males
have only one X-chromosome and the females have a pair of X-chromosome.

14. The inheritance pattern of a gene over generations among humans is studied by the
pedigree analysis. Character studied in the pedigree analysis is equivalent to:

(a) quantitative trait

(b) Mendelian trait

(c) polygenic trait

(d) maternal trait

Ans. (b) Mendelian trait

Explanation: The pattern of inheritance of Mendelian disorders can be traced through

pedigree analysis.

15. It is said that Mendel proposed that the factor controlling any character is discrete
and independent. His proposition was based on the:

(a) results of F​3 generation of a cross.

(b) observations that the offspring of a cross made between the plants having two
contrasting characters shows only one character without any blending.
(c) self-pollination of F1 offsprings

(d) cross pollination of F1 generation with recessive parent.

Ans. (b) observations that the offspring of a cross, made between the plants having two
contrasting characters shows only one character without any blending.

Explanation: During dihybrid cross, Mendel observed that when two pairs of contrasting
characters were selected for analysis; it was found that a particular character behaved
independently from another character. Hence, option ‘b’ is correct.

16. Two genes ‘A’ and ‘B’ are linked. In a dihybrid cross involving these two genes, the F1

heterozygote is crossed with homozygous recessive parental type (aa bb). What would
be the ratio of offspring in the next generation?

(a) 1: 1: 1: 1

(b) 9: 3: 3: 1

(c) 3: 1

(d) 1: 1

Ans. (a) 1: 1: 1:1

Explanation: (d) 1: 1: 1: 1

17. In the F2 generation of a Mendelian dihybrid cross the number of phenotypes and

genotypes are:

(a) phenotypes - 4; genotypes - 16

(b) phenotypes - 9; genotypes - 4

(c) phenotypes - 4; genotypes - 8

(d) phenotypes - 4; genotypes – 9

Ans. (d) phenotypes - 4; genotypes – 9

Explanation: Let us take example of dihybrid cross between round yellow (RRYY) and
wrinkled green (rryy). In F2 generation there were four Phenotypes: round yellow, round

green, wrinkled yellow and wrinkled green. The genotypes were; RRYY, RRYy, RRyy, RrYY,
RrYy, Rryy, rrYY, rrYy and rryy. Option ‘d’ is correct.

18. Mother and father of a person with ‘O’ blood group have ‘A’ and ‘B’ blood group
respectively. What would be the genotype of both mother and father?

(a) Mother is homozygous for ‘A’ blood group and father is heterozygous for ‘B’

(b) Mother is heterozygous for ‘A’ blood group and father is homozygous for ‘B’

(c) Both mother and father are heterozygous for ‘A’ and ‘B’ blood group, respectively

(d) Both mother and father are homozygous for ‘A’ and ‘B’ blood group, respectively

Ans. (c) Both mother and father are heterozygous for ‘A’ and ‘B’ blood group, respectively

Explanation: Possible genotype of parents are; IAi (A blood group) and IBi (B blood group)
and phenotype of offspring is ii (O blood group).
 CBSE Class 12 Biology
NCERT Exemplar Solutions
CHAPTER 5
PRINCIPLE OF INHERITANCE AND VARIATION

Very Short Answer Type Questions

1. What is the cross between the progeny of F​1 and the homozygous recessive parent

called? How is it useful?

Ans. The cross between the progeny of F1 and the homozygous recessive parent is called test

cross. The progenies of a test cross are studied to determine the phenotype in F1 generation.

2. Do you think Mendel’s laws of inheritance would have been different if the
characters that he chose were located on the same chromosome.

Ans. If the characters were located on some chromosome, then results could have been
entirely different. This was seen by Morgan’s experiments on Drosophilla. He observed that
the phenotype in the F​1 generation was in a different ratio than what was observed by

Mendel. This happened because the characters were located on the same chromosome.

3. Enlist the steps of controlled cross pollination. Would emasculation be needed in a

cucurbit plant? Give reasons for your answer.

Ans. Following are the steps of controlled cross pollination:

Emasculation → Transfer of pollen from a different flower → Pollination → Fertilisation

Plants of cucurbitaceae have unisexual flowers, so cross pollination is the norm and
emasculation is not needed. But in case of a monoecious plant, emasculation would be
necessary.

4. A person has to perform crosses for the purpose of studying inheritance of a few
traits / characters. What should be the criteria for selecting the organisms?
Ans. For this type to study, the organism should meet following criteria:

There must be easily identifiable sets of contrasting characters.

Life cycle of the organism should be short enough so that study can be conveniently
completed within a couple of years.
Hybridization should be easy to induce in the organism.

5. The pedigree chart given below shows a particular trait which is absent in parents
but present in the next generation irrespective of sexes. Draw your conclusion on the
basis of the pedigree.

Ans. The first row shows mating between parents. The next row shows the number of
progenies. There are three male and 2 female children. One boy and one girl are affected
with some genetic disorder. Thus, the trait is autosome linked and recessive in nature.

6. In order to obtain the F1 generation Mendel pollinated a pure-breeding tall plant

with a pure breeding dwarf plant. But for getting the F2 generation, he simply self-

pollinated the tall F1 plants. Why?

Ans. When plants of F1 generation were produced, all of them were tall plants. After that,

Mendel wanted to understand the fate of recessive character. He did not want any other
character set to mask the effect of inheritance to F​2 generation. Hence, he simply self-

pollinated the tall F1 plants

7. “Genes contain the information that is required to express a particular trait.”

Explain.

Ans. During Mendel’s period, genes were not known to the scientists. But after the discovery
of chromosomes, scientists could discover that genes are present on chromosomes and they
were responsible for inheritance of characters. Hence, it is said that genes contain the
information that is required to express a particular trait.

8. How are alleles of particular gene differ from each other? Explain its significance.

Ans. Genes which code for a pair of contrasting characters are called alleles. Alleles of a pair
are slightly different from each other. This difference may or may not be manifested as
observable characters or phenotype. But the difference can be in the form of absence or
presence of an extra molecule of a particular substance; such as sugar polymers present on
the gene I which controls the ABO blood grouping. Alleles are significant in the sense that a
particular trait can be dominant or recessive. In some instances, co-dominance can also be
seen.

9. In a monohybrid cross of plants with red and white flowered plants, Mendel got only
red flowered plants. On self-pollinating these F1 plants got both red and white flowered

plants in 3:1 ratio. Explain the basis of using RR and rr symbols to represent the
genotype of plants of parental generation.

Ans. Symbols RR and rr are used for the sake of convenience and using a particular alphabet
has no scientific basis. Usually, the first letter of a particular trait is used to describe that
character and the contrasting character is shown by the same letter but in a different case.
As per convention, dominant trait is shown by capital letter and recessive trait is shown by
lower case letter.

10. For the expression of traits genes provide only the potentiality and the environment
provides the opportunity. Comment on the veracity of the statement.

Ans. Genes are the carriers of inheritable traits and hence it can be said that the genes
provide the potentiality for the expression of a particular trait. Expression of a particular
trait is termed as phenotype and it is dependent on many factors. A particular trait may
become recessive if it gets combined with a dominant trait. Moreover, survival of a
particular trait also depends on the fact whether the trait passes the natural selection. Hence,
it can be said that the environment provides the opportunity for expression of a particular
trait.
11. A, B, D are three independently assorting genes with their recessive alleles a, b, d,
respectively. A cross was made between individuals of Aa bb DD genotype with aa bb
dd. Find out the type of genotypes of the offspring produced.

Ans. The following Punnett Square shows the genotype of F1 generation:

abd

AbD AabbDd

abD aabbDd

12. In our society, a woman is often blamed for not bearing male child. Do you think it
is right? Justify.

Ans. From the concept of sex determination in humans, it is clear that Y chromosome which
is present in males comes from the father and not from the mother. Hence, it is the man who
should be blamed for not having a male child rather than the woman. But probability of an X
or Y chromosome ending up in the zygote is equal, i.e. 50: 50. So, it is purely a chance that a
girl or a boy is borne and no one should be blamed or rewarded for that. The society should
learn to respect the girl child as well.

13. Discuss the genetic basis of wrinkled phenotype of pea seed.

Ans. Seeds dry before they are ready for dispersal and subsequent germination. If there is
enough amount of starch in the seed, then the seed is round otherwise wrinkled seeds are
produced. Relative amount of starch in seed is controlled by a gene. A mutant gene in pea
plants results in enzymes which lessen the amount of starch in seeds and thus seeds become
wrinkled.

14. Even if a character shows multiple allelism, an individual will only have two alleles
for that character. Why?
Ans. Most of the organisms are diploid and thus alleles can only be present in pairs. Hence,
in spite of multiple allelism; an individual will only have two alleles for that character. A

good example of this can be shown by IA, IB and i alleles which govern the ABO blood
grouping in humans.

15. How does a mutagen induce mutation? Explain with example.

Ans. Mutagens are chemical and physical factors which can induce mutation. They do so by
altering the base pair sequence in the DNA during replication.
 CBSE Class 12 Biology
NCERT Exemplar Solutions
CHAPTER 5
PRINCIPLE OF INHERITANCE AND VARIATION

Short Answer Type Questions

1. In a Mendelian monohybrid cross, the F2 generation shows identical genotypic and

phenotypic ratios. What does it tell us about the nature of alleles involved? Justify your
answer.

Ans. When plants of F1 generation are allowed to reproduce without cross, the alleles

segregate and one allele goes to one parent while another allele goes to another parent. This
is in accordance with transfer of halved number of chromosome during meiosis. This
segregation is a random process and there is 50% chance of a particular allele going to either
the male gamete or the female gamete. Due to this, the genotype produced in F2 generation is

same as the phenotype produce in that generation. So, percentage of plants with pure
genotype and those with mixed genotype will be same, i.e. 50%

2. Can a child have blood group O if his parents have blood group ‘A’ and ‘B’. Explain.

Ans. A child from parents with blood group ‘A’ and ‘B’ can have blood group O. If genotype of

one parent is IAi and that of another parent is IBi; then gametes from the parents can have

any one of the genotype, i.e. IA or IB or i. If fertilization happens between gametes with i
only, then the child’s genotype will be ii and hence the child can have blood group O.

3. What is Down’s syndrome? Give its symptoms and cause. Why is it that the chances of
having a child with Down’s syndrome increases if the age of the mother exceeds forty
years?

Ans. Down’s syndrome is a chromosomal disorder. A person suffering from Down ‘s

syndrome shows following symptoms:
 Short stature
Small round head
Furrowed tongue and partially open mouth
Palm is broad with characteristic palm crease.
Physical, psychomotor and mental development is retarded in the person.

This condition happens because of an extra copy of chromosome 21. As per various research
reports, chances of having a child with Down’s syndrome increases with advancing maternal
age because ova are present in females right from their birth. More is the age of the mother,
cells will be more older. Hence, chances of chromosomal non-disjunction will be more
because of various physico-chemical exposures during the mother’s life-time.

4. How was it concluded that genes are located on chromosomes?

Ans. Walter Sutton and Theodor Boveri studied the behaviour of chromosome and genes
during meiosis. They observed that the movement of chromosome and that of gene was
similar. Based on this observation, thy proposed that genes are located on chromosomes.

5. A plant with red flowers was crossed with another plant with yellow flowers. If F1

showed all flowers orange in colour, explain the inheritance.

Ans. Sometime, dominance of a particular trait over another trait may not be complete. This
results in a situation that both the characters manifest together in some progeny. This
condition is called incomplete dominance. Let us assume that red flowers have genotype RR
and yellow flowers have genotype rr. All progenies in the F1 generation will have Rr

genotype. Since red colour fails to completely dominate the yellow colour; all plants in F1

generation produce orange flowers.

6. What are the characteristic features of a true-breeding line?

Ans. Following are the characteristic features of a true-breeding line:

Self-pollination through successive generation.

Stable trait inheritance through several generations.
 Stable expression of characters through several generations.

7. In peas, tallness is dominant over dwarfness, and red colour of flowers is dominant
over the white colour. When a tall plant bearing red flowers was pollinated with a
dwarf plant bearing white flowers, the different phenotypic groups were obtained in
the progeny in numbers mentioned against them:

Tall, Red = 138

Tall, White = 132
Dwarf, Red = 136
Dwarf, White = 128

Mention the genotypes of the two parents and of the four offspring types.

Ans. Genotypes of parents: TtRr and ttrr

Offspring: Tall, Red: TtRr

Offspring: Tall, White: Ttrr

Offspring: Dwarf, Red: ttRr

Offspring: Dwarf, White: ttrr

8. Why is the frequency of red-green colour blindness is many times higher in males
than that in the females?

Ans. The genes that produce photopigments are present on X-chromosomes. If some of the
gene is missing or damaged, it can result in colour blindness. Since males have only one X-
chromosome, the chances of colour blindness is very high in males. In case of females, to be
colourblind must have the allele for it in both her X-chromosomes. In case, if female
possesses the allele for colourblind in only one X-chromosome, then she will act as a carrier
and won’t be affected by it.

9. If a father and son are both defective in red-green colour vision, is it likely that the
son inherited the trait from his father? Comment.
Ans. The genes for colour blindness are present on the X chromosome. But X chromosome in
a son (male child) is not contributed by the father but comes from the mother. Hence, even if
a father and his son both are suffering from colour blindness, the son has inherited this trait
from his mother.

10. Discuss why Drosophila has been used extensively for genetical studies.

Ans. Following features of Drosophila make it ideal for genetical studies:

It can be grown on simple synthetic medium in laboratory.

It completes its life cycle in two weeks.
A single mating produces a large number of offsprings.
There is clear cut sexual dimorphism in Drosophila.
It has many hereditary variations which can be easily observed with a low power
microscope.

11. How do genes and chromosomes share similarity from the point of view of genetical
studies?

Ans. Following are the similarities in genes and chromosomes from the point of view of
genetical studies:

They are found in pairs.

They segregate at the time of gamete formation and only one of the pair is transmitted to a
gamete.

Independent pairs segregate independently of each other.

12. What is recombination? Discuss the applications of recombination from the point of
view of genetic engineering.

Ans. The gene combination which is different from parental genes is called recombination.
This can happen naturally during meiosis. This can also be artificially induced through
genetic engineering. Genetic engineering has been applied in creating recombination for
various species to produce useful products for humans. For example; Bt cotton and Bt brinjal
have been produced through genetic engineering. Some vaccines are also being produced
through this process, e.g. hepatitis B vaccine.

13. What is artificial selection? Do you think it affects the process of natural selection?
How?

Ans. Artificial selection is the selective breeding of plants and animals to include beneficial
traits in them. This is also called selective breeding. While some selective breeding can be
purely artificial, many others are natural breeding done in a controlled environment. From
the point of ethics, it may be wrong to go for artificial selection. But if we follow the law of
natural selection and survival of the fittest, then it can be safely assumed the even in case of
artificial selection only those varieties are going to survive which are fit to survive. Hence, it
can be inferred that artificial selection is not going to affect the process of natural selection.

14. With the help of an example differentiate between incomplete dominance and co-
dominance.

Ans.

Incomplete dominance Co-dominance

(i) Phenotypes from both the

(i) Phenotypes from both the parents are partially
parents are completely manifested
manifested in F1 generation.
in F​1 generation.

(ii) Example: When snapdragon plants with red flowers

(ii) Example: ABO blood grouping in
were crossed with flowers, the F1 generation produced
humans shows co-dominance.
pink flowers.

15. It is said, that the harmful alleles get eliminated from population over a period of
time, yet sickle cell anaemia is persisting in human population. Why?
Ans. The sickle cell anemia is controlled by a single pair of allele; HbA and HbS. If both the

parents are heterozygous (HbAHbS) then the offspring can suffer from this disease. The

offspring should be homozygous (HbSHbS). Heterozygous individuals are carriers of this of

this disease. Heterozygous individuals are advantageous in terms of adaptation. Due to this,
sickle cell anemia is persisting in human population.
 CBSE Class 12 Biology
NCERT Exemplar Solutions
CHAPTER 5
PRINCIPLE OF INHERITANCE AND VARIATION

Long Answer Type Questions

1. In a plant tallness is dominant over dwarfness and red flower is dominant over
white. Starting with the parents work out a dihybrid cross. What is standard dihybrid
ratio? Do you think the values would deviate if the two genes in question are
interacting with each other?

Ans. The following Punnett Square shows cross between tall plant with red flowers (TTRR)
and dwarf plant with white flowers (ttrr). All the plants in F1 generation will be tall and will

produce red flowers.

When plants of F1 generation are allowed to self-pollinated, phenotype of plants in F​2

generation can be shown by following Punnett Square.

In this case, the standard dihybrid ratio 9 : 3 : 3 : 1 which can be shown as follows:

Tall plant red flower = 9

Tall plant white flower = 3
Dwarf plant red flower = 3
Dwarf plant white flower = 1
The standard dihybrid ratio works only when the genes for contrasting characters are on
different chromosomes. If characters are on the same chromosome, they may interact with
each other. In that situation, the dihybrid ratio would show variation from the standard
dihybrid ratio.

2. (a) In humans, males are heterogametic and females are homogametic. Explain. Are
there any examples where males are homogametic and females heterogametic?

(b) Also, describe as to, who determines the sex of an unborn child? Mention whether
temperature has a role in sex determination.

Ans. (a) In humans, the 23rd pair of chromosome contains and X chromosome and a Y
chromosome. Hence, males are called heterogametic. Females, on the other hand, have XX

chromosomes in the 23rd pair. Hence, females are called homogametic. But in bird’s females
have ZW chromosome and male have ZZ Chromosome. So, in some cases, males can be
homogametic and females can be heterogametic.

(b) In case of humans, sex is determined by X and Y-chromosomes. Out of the 23 pairs of

chromosomes in human beings, the 23rd pair is called sex chromosome while the remaining

22 pairs are called autosomes. All males have X and Y-chromosomes in the 23rd pair while

females have XX-chromosomes in the 23rd pair. Thus, a sperm can have either X or Y-
chromosome, while all the eggs will have X-chromosome. When a sperm with X chromosome
fertilizes the ovum; the zygote will result in development of a girl child. If a sperm with Y-
chromosome fertilizes the ovum; the zygote will result in development of a male child.

Temperature dependent sex determination is found in many animals, e.g. in crocodiles.

When eggs are incubated at higher temperature, it results in birth of male crocodiles.

3. A normal visioned woman, whose father is colour blind, marries a normal visioned
man. What would be probability of her sons and daughters to be colour blind? Explain
with the help of a pedigree chart.

Ans. Following pedigree analysis shows the probability of prevalence of colour blindness in
offspring:
 The P generation shows a normal husband and a carrier wife.
The F1 generation shows one male child and two female children.

The male child will suffer from colour blindness and one of the females may be a carrier.

The genes for colour blindness are mainly present on the X-chromosome. We know that only
one X-chromosome is present in males. Hence, if a boy has defective X-chromosome (without
some genes of photoreception) the boy would be colour blind. Females have another X-
chromosome which compensates for the deficiency of its counterpart. Due to this, females,
are usually carriers of this disease and seldom suffer from this disease. In terms of
prevalence; about 8% of the male population suffers from colour blindness, while just 0.5%
of the females suffer from this condition.

4. Discuss in detail the contributions of Morgan and Sturtevant in the area of genetics.

Ans. Morgan and his group conducted various experiments in the field of genetics.
Sturtevant was a student of Morgan. Some of the contributions by them are as follows:

Morgan carried out several dihybrid crosses of Drosophila. He observed that the phenotypic
ratio was not similar to the standard phenotypic ratio as observed by Mendel. Morgan and
his team were aware that the genes were located on X chromosome. Thy inferred that when
the genes were situated on the same chromosome, they did not segregate independently of
each other.

When the genes are situated on the same chromosome, the chances of parental combination
are much higher than non-parental combination. The physical association of genes on the
same chromosome was termed as linkage; by Morgan. Morgan also coined the term
recombination to describe generation of non-parental combination.

Sturtevant came out with the finding that relative distance between two genes on the same
chromosome was an important factor in recombination or lack of recombination. If the
genes were tightly linked, they did not show recombination. But if the genes were far apart
then chances of recombination were higher. Today’s genetic mapping could be developed
because of contributions made by Morgan and his team.

5. Define aneuploidy. How is it different from polyploidy? Describe the individuals

having following chromosomal abnormalities.

(a) Trisomy of 21st Chromosome

(b) XXY

(c) XO

Ans. Failure of chromatid segregation during cell division results in loss or gain of a
chromosome. This is called aneuploidy. Failure of cytokinesis; after telophase; results in an
increase in a whole set of chromosomes. This condition is called polyploidy. Polyploidy is
often seen in plants but is rare in animals.

(a) Trisomy or 21th Chromosome: Presence of an additional copy of 21th chromosome is

called trisomy of 21th chromosome. This was first described by Langdon Down (1866) and
hence is called Down’s Syndrome. The person suffering from Down’s syndrome is short
stature and has small round head. He has furrowed tongue and partially opened mouth. His
palm is broad with characteristic palm crease. Physical, psychomotor and mental
development is retarded in such person.

(b) XXY: This genetic disorder happens because of an additional copy of X chromosome

resulting in a karyotype of 47. There are three chromosomes (XXY) in the 23rd set. This
condition is knowns as Klinefelter’s syndrome. Such a person shows overall masculine
development but also show enlarged breasts (gynaecomastia). Such a person is sterile as
well.

(c) XO: This genetic disorder happens because of lack of an X chromosome resulting in a
ploidy of 45 (XO). This condition is called Turner’s syndrome. Ovaries are rudimentary in
such females and hence such females are sterile. Secondary sexual characters are also absent
in such females.