Chapter 4 : Principles of Inheritance and Variation

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Chapter 4 : PRINCIPLES OF INHERITANCE AND VARIATION

TWO MARK QUESTIONS

1. State the Mendelian principle which can be derived from a dihybrid cross
and not from monohybrid cross.
The dihybrid cross, the law of independent assortment can be derived which
states that when two pairs of traits are combined in a hybrid, segregation of one pair
of characters is independent of the other pair of characters.

2. ABO blood group is a good example of codominance. Justify.

When the dominant alleles of the same gene which are contributed by both
parents are expressed (called co-dominance) F1 generation resembles both the
parents: In human blood group

Parents : IA IA IB IB
Gametes : IA IB
F1 - : IAIB
OR
In human red blood cells, alleles IA and IB of gene I are both dominant, when IA
& IB are present together in an individual both are expressed as IA IB, (AB blood
group).

3. A true breeding pea plant, homozygous dominant for with constricted yellow
pods (ffgg). With the help of inflated green pods is crossed with another pea
plant punnett square show the above cross and mention the results obtained
phenotypically and genotypically in F1 generation?

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 Chapter 4 : Principles of Inheritance and Variation

Making the correct punnett square

Phenotype -All Inflated green pods
Genotype –FfGg

4. (a) State ONE point of difference between a monohybrid cross and a test
cross.
(b) What is/are the possible genotypic ratio/s in a test cross?
(a)
• Monohybrid cross takes place between two parents of any genotype whereas in a
test cross one parent is necessarily homozygous recessive for a/multiple trait/s.
• Monohybrid cross between known parents is done to determine the pattern of
inheritance of one single gene whereas a test cross is done to determine the
unknown genotype of one individual/parent of the cross.
(b)
• All heterozygous dominant, if the unknown genotype is homozygous dominant
• 1:1 (heterozygous dominant: homozygous recessive) if the unknown genotype is
heterozygous dominant.

5. Differentiate between aneuploidy and polyploidy

Aneuploidy is a chromosomal abnormality in which one or more chromosomes are
gained or lost. Polyploidy is when an entire extra set of chromosomes isadded. (It
may be triploid or tetraploid).

6. State what does aneuploidy lead to.

Failure of segregation of chromatids during cell division cycle results in the gain
or loss of a chromosome(s), called aneuploidy. It could lead to genetic disorders like
Down's syndrome, and Turner's syndrome.

7. State what are Mendelian disorders. Both Thalassaemia and colour blindness
categorised as Mendelian disorders. Justify
Mendelian disorders are a type of genetic disorders in humans which is caused
by alteration or mutation in a single gene.
Thalassaemia: Thalassaemia is an autosomal recessive disorder of red blood cells.
In thalassaemia, one of the components of the haemoglobin molecule is inadequately
produced or not produced at all. The reason for the inadequate or non-production of
these components is a change in the genetic code (mutation), in that part of the
DNA, which is the template for the production of the protein. A mutation may exist
on one chromosome of a pair.

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 Chapter 4 : Principles of Inheritance and Variation

Colour blindness: It is a sex-linked recessive disease in which the gene controlling a

specific trait is present in its recessive form on the X-chromosome. It is a heredity
disease in which the individual fails to distinguish red and green colours. This gene
appears in the normal (dominant) and the mutant (recessive) form. Because the
females have two X chromosome while males have only one X chromosome, for a
female to get affected by colour blindness, she has to have the mutant gene on both
the X chromosomes while males may be affected if they carry it on the X-
chromosome.

8. Differentiate between „ZZ‟ and „XY‟ type of sexdetermination mechanisms

ZZ type of sex determination mechanism is found in birds, reptiles and fish. In
this type, the females have heteromorphic sex chromosomes (ZW), while males have
homomorphic sex-chromosomes (ZZ). Females are heterogametic i.e., produce two
dissimilar types of eggs while males produce only one type of sperms. The egg
determines the sex of the individual. XY type of sex determination mechanism is
found in human beings. In this type, the male individuals have heteromorphic sex
chromosomes (XY) and are therefore heterogametic i.e., producing two types of
sperms are with X and the other carrying the Y chromosome. The females have
homomorphic sex chromosome (XX) and homogametic i.e., produce only one type of
eggs. The sex of the offspring is determined by the type of sperm taking part in
fertilisation.

9. (a) Explain the cause responsible in a human to have sex chromosomes as

'XXY' instead of 'XX' or 'XY'.
(b) List any two ways such individuals are different from the normal being.
(a) Cause:
Presence of an additional copy of X-chromosome in male. This condition is
known as Klinefelter‘s syndrome.
(b) Features of affected individual:
Overall masculine development, however, the feminine development is also
expressed.
(i) Development of breast (Gynaecomastia).
(ii) Sterile.
(iii) Mentally retarded.

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 Chapter 4 : Principles of Inheritance and Variation

10. Thalassemia is an autosomal recessive disorder that causes anaemic

conditions in an individual. A blood smear from a heterozygous individual
shows blood cells that are small, pale and irregularly shaped along with normal
RBCs.
(a) State the genotypic and phenotypic ratios of offspring born to a carrier
mother and a thalassemic father.
(b) Does the allele for thalassemia exhibit codominance? Justify
(a)
Genotypic ratio: 1:1 ratio of carriers:affected
Phenotypic ratio: 50% will not show major symptoms while 50% will show the
symptoms.
(b)
- Yes
- Since both proteins are produced/both types of RBCs are visible, it is
codominance.

11. A Snapdragon plant with violet flowers was crossed with another such
plant with white flowers. The F1 progeny obtained had pink flowers. Explain,
in brief, the inheritance pattern seen in offsprings of the F1 generation.
The inheritance is an example of incomplete dominance. In this, a new
intermediate phenotype between the two original phenotypes is obtained. One allele
for a specific trait is not completely expressed over the other allele for the same trait.

12. Name the pattern of inheritance where F1 phenotype:

(a) resembles only one of the two parents.
(b) does not resemble either of the two parents and is in between the two.
(a) Dominance
(b) incomplete dominance

13. British geneticist R.C. Punnet developed a graphical representation of a

genetic cross called "Punnet Square". Mention the possible result this
reproduction predicts of the genetic cross carried.
All possible genotypes of offspring in a genetic cross carried between pure line tall
and dwarf plant is as follows:

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 Chapter 4 : Principles of Inheritance and Variation

14. Name the type of cross that would help to find the genotype of a pea plant
bearing violet flowers.
Test Cross:
A test cross (monohybrid test cross) would enable to find the genotype of a pea
plant bearing violet flowers. The plant can be crossed with its recessive parent
i.e.white flowered pea plant and the progeny can be evaluated to determine its
genotype as homozygous or heterozygous.

15. On what basis is the skin colour in humans considered polygenic?

Polygenic trait is influenced by more than one gens. Skin colour in human is
controlled by three genes which are responsible for synthesis is of melanin pigmint

16. Name the Scientists and write how did they explain Mendel's laws after the
chromosomes were discovered.
Walter Sutton and Theodore Boveri proposed Chromosomal Theory of
inheritance.
Following are the observations that led Sutton and Boveri to come up with the
Chromosomal Theory of inheritance:
(i) Chromosome and genes are present in pairs in diploid cells.
(ii) Homologous chromosomes separate during gamete formation (meiosis).
(iii) Fertilisation restores the chromosome number to diploid condition.
(iv) The chromosomal theory of inheritance claims that, it is the chromosomes that
segregate and assort independently.

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 Chapter 4 : Principles of Inheritance and Variation

17. Mendel succeeded in all his experiments on pea plant for selected traits
and concluded the three laws without any exception. What main factor would
you attribute behind his success?
The main reason behind Mendel's success is that he unknowingly selected those
traits that were present on different chromosomes or were distantly located on same
chromosome. Hence, he did not encounter linkage.

18. State any two important differences between phenomenon of co-

dominance and dominance.
Differences between phenomenon of codominance and dominance are as follows
Codominance Dominance
Both the alleles are equally
(i) Only one allele is dominant.
dominant.
The dominant allele shows its
The alleles show their independent independent effect in heterozygous
(ii) effects even in heterozygous condition, whereas other (recessive)
condition. allele shows its effect only in
homozygous condition

19. Mention how the various factors affect linkage.

Linkage is affected by the following factors:
(i) The strength of linkage increases with the increase in age.
(ii) A rise in temperature decreases the strength of linkage.
(iii) Radiations like UV rays and X rays decreases the strength of linkage.
(iv) Distance between two genes if increased, then the linkage strength decreases.

20. Differentiate between XX-XY type and ZW-ZZ type of sex determination
mechanism.
Differences between XX-XY and ZW-ZZ type of sex determination mechanism are as
follows:
XX-XY type ZW-ZZ type
Male produces only one type of
(i) Male produces two types of sperms.
sperm.
(ii) Female forms only one type of ovum. Female forms two types of ova.
Male contains heteromorphic sex Female contains heteromorphic sex
(iii)
chromosomes (XY). chromosomes (ZW).
(iv) Example: humans. Example : birds.

21. What do you understand by dihybrid cross?

Dihybrid cross is a cross involving two pairs of contrasting characters. E.g., cross
between plant with round and yellow seeds with plant having wrinkled and green
seeds.

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 Chapter 4 : Principles of Inheritance and Variation

22. What were the reasons for selecting pea plant by Mendel for his breeding
experiments?
Reasons for selecting pea plant are:
(i) Pure varieties of pea were available.
(ii) Pea plants showed a number of easily detectable contrasting characters.
(iii) The plant is self pollinated, but it can be cross bred manually.
(iv) F1 hybrids are fertile.

23. What is the cause of thalassaemia? Mention its types also.

 Thalassemia is an autosomal recessive blood disorder, transmitted to the
offspring, when both the parents are heterozygous, i.e., carrier of the
disease.
 The defect arises either due to mutation or deletion of genes controlling
synthesis of one of the globin chains of haemoglobin. Imbalanced synthesis
of globin chains of haemoglobin causes anaemia.
 Depending on the globin chain affected, thalassemia is of 3 types: alpha (α)
thalassemia, beta (β) thalassemia and delta (δ) thalassemia.

24. Write the types of sex-determination mechanisms the following crosses

show. Give an example of each type.
A) Female XX with male XO
(B) Female ZW with male ZZ.
(A) The type of sex-determination mechanism in which Female is XX with Male XO is
Male heterogamety. Example: Grasshopper.
(B) The type of sex-determination mechanism in which Female is ZW with Male ZZ is
Female heterogamety. Example: Birds.

25. Name a human genetic disorder due to the following:

(a) An additional X-chromosome in a male
(b) Deletion of one X-chromosome in a female
(a) Klinefelter‘s Syndrome
(b) Turner‘s Syndrome.

26. A haemophilic father can never pass the gene for haemophilia to his son.
Explain.
It is a sex linked recessive disorder in which X-chromosome has the
haemophilic gene. Son inherits a Y chromosome from father and gene for
haemophilia is not present on Y chromosome.1+1

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27. Which chromosomes carry the mutant genes causing thalassaemia in

humans? What are the problems caused by these mutant genes ?
11th and 16th chromosomes carry the mutant gene causing thalassaemia.
These cause the formation of abnormal haemoglobin molecules resulting into
anaemia.

THREE MARK QUESTIONS

1. State Mendel's law of dominance. How did he deduce the law? Explain with
the help of a suitable example.
Law of Dominance:
 It states that characters are controlled by discrete units called factors, which
occur in pairs.
 It states that a dominant allele expresses itself in a monohybrid cross and
suppresses the expression of recessive allele.
 However, this recessive allele for a character is not lost and remains hidden or
masked in the progenies of the F1 generation and reappears in the next
generation.
 This law explains the expression of only one of the parental character in the F1
generation and the expression of both in the F2 generation. For e.g., When pea
plants with round seeds (RR) are crossed with plants with wrinkled seed (rr),
all seeds in the F1 generation were found to be round (Rr). When these round
seeds were self-fertilized, both the round and wrinkled seeds appeared in F2
generation in 3 : 1 ratio.
 Hence, in F1 generation the dominant characters (round seed) appeared and
the recessive character (wrinkled seeds) got suppressed, which reappeared in
F2.

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2. You are asked to find the genotypes of a tall pea plant growing in your
school garden. Name the cross and explain how would you confirm the
genotypes.
The genotypes of a tall pea plant growing in our school garden can be found by
test cross. A test cross is a cross between an organism with unknown genotype and
a recessive parent. It is used to determine whether the individual is homozygous or
heterozygous for a trait. For e.g., It is used to determine if tallness is coming from TT
or Tt.
Case I: When TT is crossed with tt, we obtain all Tt (tall) individuals in the progeny.
Case II: When Tt is crossed with tt, we obtain all Tt (Tall) and tt (dwarf) individuals
in the progeny.
Therefore, if tallness is coming from TT, then we obtain all tall progenies in test
cross. We obtain both tall and dwarf varieties in test cross, if tallness is coming from
Tt.

3. Compare in any three ways the chromosomal theory of inheritance as

proposed by Sutton and Boveri with that of experimental results on pea plant
presented by Mendel.

Sutton and Boveri Mendel

1. Chromosomes occur inpairs. 1. Factors occur in pairs.

2. Chromosomes segregate at the time 2. Factors segregate at the gamete
of gamete formation such that only one formation stage and only one of each
of each pair is transmitted to a gamete. pair is transmitted to a gamete.
3. Independent pairs of chromosomes 3. One pair of factors segregate
segregate independently of each other. independently of another pair.

4. (a) Explain linkage and recombination as put forth by T. H. Morgan based on

his observations with Drosophila melanogaster crossing experiment.
(b) Write the basis on which Alfred Sturtevant explained gene mapping.
(a) Linkage: Physical association of genes on a chromosome,
• Two genes did not segregate independently of each other.
• F2 (phenotypic) ratio deviates (significantly) from 9 : 3 : 3 : 1
• Recombination: Tightly linked genes tend to show fewer recombinant frequency /
1.3%
• Loosely linked genes show a higher percentage of recombinant frequency / 37.2%

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 Chapter 4 : Principles of Inheritance and Variation

(b)He used the frequency of recombination between gene pairs on the same
chromosome as a measure of distance between genes and mapped their position on
the chromosome.

5. How does gain or loss of chromosome(s) takes place in humans? Describe

one example each of chromosomal disorder along with the symptoms involving
an autosome and a sex chromosome.
Failure of segregation of chromatids during cell division cycle results in the gain
or loss of a chromosome(s) (aneuploidy) 1
Autosomes:
Down‟s Syndrome: The cause is the presence of an additional copy of the
chromosome number 21 (trisomy of 21).
The affected individual is:
 Short-statured with small round head.
 Furrowed tongue and partially open mouth.
 Palm is broad with characteristic palm crease.
 Physical, psychomotor and mental development is retarded.

Sex chromosomes:
Klinefelter‟s Syndrome: This is caused due to the presence of an additional copy of
X- chromosome resulting into a karyotype of 47, XXY. Such an individual has
overall masculine development.
 Feminine development is also expressed by the development of breast/
Gynaecomastia. Such individuals are sterile.

6. (a) Compare the mechanism of sex determination of humans with that of

honey bees, with respect to chromosome number.
(b) How is the gamete formation comparable in the above two cases?
Sex determination in humans Sex determination in honey bee
(a) Human has 23 pairs of
(a) The females are diploid having 32
chromosomes (22 pairs areautosomes
chromosomes and males are haploid
and 1 pair is sex chromosomes). A pair
i.e., having 16numbers of chromosomes.
of X-chromosomes (XX) is present in the
This is called haplo-diploid sex
female, whereas X and Y chromosomes
determination system.
are present in a male

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7. Explain the mechanism of „sex determination‟ in birds. How does it differ

from that of human beings?

Birds: Female heterogamety / female produces (Z) types and (W) type of gametes
Humans: Male heterogamety / male produces (X) types and (Y) types of gametes

8. Differentiate between Dominance, Incomplete dominance and co-dominance

with the help of a suitable example of each.
Dominance: One allele expresses itself in the hybrid heterozygous condition, other
is suppressed. e.g., In the case of A, B and O, law of dominance is the pattern of
inheritance as IA / IB dominant over i.
Incomplete dominance: Neither of the two alleles of a gene is completely dominant
over the other in heterozygous the hybrid is Intermediate. e.g., Dogflower/
Snapdragon/Antirrhinum.
Co-dominance: Both the alleles of a gene are expressed in a heterozygous hybrid
containing two dominant alleles. e.g., In the AB group, both the alleles IA and IB
express. It is the case of codominance.

9. A cross between a normal couple resulted in a son who was haemophilic and
a normal daughter. In course of time, when the daughter was married to a
normal man, to their surprise, the grandson was also haemophilic.
(a) Represent this cross in the form of a pedigree chart. Give the genotypes of
the daughter and her husband.
(b) Write the conclusion you draw form the inheritance pattern of this disease.

(a) The pedigree chart of the cross is represented as:

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 Chapter 4 : Principles of Inheritance and Variation

 Thus, from the above pedigree, the genotypes of daughter and her husband
can be deduced as XXh and XY respectively.
(b) From this, it can be concluded that haemophilia is a sex linked disease
showing criss-cross pattern of inheritance where a parent passes the traits
to the grandson. Here , the female is the carrier of the disease haemophilia.
10. Linkage and crossing over of genes are alternative to each other. Justify
the statement.
 Linkage is the tendency of two different genes on the same chromosome to
remain together during the separation of homologous chromosomes at
meiosis. Linked genes do not exhibit the dihybrid ratio of 9:3:3:1.
 It produces offspring with parental characters. Crossing over is the
exchange of genes occurring during meiotic prophase I to break old
linkage and establish new ones. It produces recombination resulting in
new varieties.
 Thus, they are alternatives of one another, i.e., if linkage is present in
between genes, no crossing over occurs between them and if crossing over
occurs between the two genes, then they are not linked.
 For example, in Drosophila a yellow bodied white eyed female was crossed
with brown bodied red eyed male, F1 progeny produced was intercrossed.
 The resulting F2 phenotypic ratio of Drosophila deviate significantly from
Mendel‘s dihybrid ratio of 9:3:3:1.
 This signifies that the genes for eye colour and body colour are closely
located on the ‗X‘ chromosome and are linked. Therefore, they are
inherited together.
 Recombinants were formed due to crossing over but with low
recombination frequency

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 Chapter 4 : Principles of Inheritance and Variation

11. How does the gene „I‟ control ABO blood groups in humans? Write the
effect that the gene imparts to red blood cells.
 ABO blood groups are controlled by the gene I. The plasma membrane of
the red blood cells has sugar polymers (antigen) that protrude from its
surface.
 The kind of sugar present on its surface is controlled by the alleles of gene I.
The gene I has three alleles IA, IB and i. The alleles IA and IB produce a
slightly different form of the sugar while allele i does not produce any sugar.
 Each person possesses a combination of any of these three I gene alleles,
which determines the type of polymer or antigen to be present on the RBCs
of that person.
 Alleles IA and IB are completely dominant over i. But when IA and IB are
present together, they both express their own types of sugar (antigen)
because of codominance.
 Hence, red blood cells have both A and B types of sugars. Since there are
three different alleles, there are six different combinations of these three
alleles that are possible, and therefore, a total of six different genotypes are
there in human ABO blood group.

12. (a) Name the kind of diseases/disorders along with any one of the symptom
that are likely to occur in humans if :
(i) mutation in the gene that codes for an enzyme phenylalanine hydrolase
occurs
(ii) there is an extra copy of chromosome 21
(iii) the karyotype is XXY.
(b) Give an example of autosomal recessive trait. Discuss its inheritance
pattern with the help of a cross.
(a) The disorders along with the symptoms are given below:
(i) Phenylketonuria causes mental retardation
(ii) Down‘s syndrome-partially open mouth with furrowed tongue
(iii) Klinefelter‘s syndrome-development of feminine characters like development of
breasts in male.
(b) Sickle cell anaemia is an autosomal recessive disorder. This occurs due to
formation of abnormal haemoglobin-S. In this disorder, the erythrocytes become
sickle shaped due to presence of S-haemoglobin. The gene for normal haemoglobin
is represented by HbA while that for sickle shaped by HbS. This can be shown by
the given cross:

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 Chapter 4 : Principles of Inheritance and Variation

13. Explain the phenomenon with the help of an example where F2 phenotypic
ratio and genotypic ratio are similar i.e., 1 : 2 : 1
 Incomplete dominance is the phenomenon where F2 phenotypic ratio is
similar to genotypic ratio of 1 : 2 : 1. E.g., flower colour in Mirabilis jalapa.
 In a cross between true-breeding red-flowered (RR) and true breeding white-
flowered plants (rr), the F1 (Rr) was pink.
 When the F1 was self-pollinated the F2 resulted in the following ratio 1 (RR)
Red: 2 (Rr) Pink: 1 (rr) White.
 Genotypic ratio was similar to Mendelian monohybrid cross and phenotypic
ratio changed from 3 : 1 to 1 : 2 : 1.
 R was not completely dominant over r and this made it possible to
distinguish Rr (pink) from RR (red) and rr (white).

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 Chapter 4 : Principles of Inheritance and Variation

14. Which genetic disorder is caused due to the trisomy of X – chromosome?

Mention the diagnostic features of the disorder.
 Klinefelter's syndrome is caused due to trisomy of X chromosome.
Klinefelter‘s syndrome (XXY) is caused by presence of extra X-chromosome
due to union of nondisjunct XX egg and a normal Y sperm or normal X egg
and abnormal XY sperm. The individual has 2n = 47 chromosomes (44 +
XXY) instead of 46.
 These individuals are genetically sterile males have underdeveloped testes,
azospermia (less and deformed sperm), gynaecomastia (enlarged breast),
mental retardation, occurrence of barr body etc.

15. "The sex of the child is determined by the father and not by the mother."
Justify the statement
 In humans, sex of the child is determined at the time of fertilisation. The
female parent produces only one type of gamete with X-chromosome while
the male gametes are of two types, one with X-chromosome and other with
Y-chromosome.
 Fertilisation of the egg with sperm carrying X-chromosome produces a
female child while fertilisation with sperm carrying Y-chromosome gives
rise to male child.
 Thus, sex of the child is determined by the father and not by the mother.

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 Chapter 4 : Principles of Inheritance and Variation

16. Describe the mechanism of inheritance of ABO blood groups in humans

 In humans, ABO system of blood group is a case of multiple allelism,
codominance and dominance.
 In the ABO system, there are four blood groups A, B, AB and O.
 ABO blood groups are controlled by gene I.
 The gene I has three alleles IA, IB and i, this phenomenon is known as
multiple allelism.
 IA and IB are completely dominant over i, this is known as dominance.
 When IA and IB are present together they both express themselves and
produce blood group AB, this phenomenon is known as codominance.
 The blood groups and their possible genotypes are given below in the table :

17. A true breeding pea plant, homozygous dominant for inflated green pods is
crossed with another pea plant with constricted yellow pods (ffgg). With the
help of Punnett square show the above cross and mention the results obtained
phenotypically and genotypically in F1 generation.

Making the correct punnett square

Phenotype – All Inflated green pods
Genotype – FfGg

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18. Mendel proposed the law of segregation. Explain the law with the help of a
cross.
The law of segregation states that each individual that is a diploid as a pair of
alleles (copy) for a particular trait. Each parent passes an allele at random to their
offspring resulting in a diploid organism. The allele that contains the dominant trait
determines the phenotype of the offspring.
Example: B (Gene for Blue seeds) and b (Gene for Brown seeds).
Parent Blue seed (BB) Brown seed (bb)
Gametes B × b
F1 Bb
(Blue seeds)

Phenotypic ratio : Blue : Brown = 3 : 1

Genotypic ratio : BB : Bb : bb = 1 : 2 : 1

19. Why is haemophilia generally observed in human males? Explain the

conditions under which a human female can be haemophilic.
 Haemophilic disorders affect males more often than females because females
have an additional X chromosome that acts as a ―back-up.‖ Because males
only have one X chromosome, any mutation in the factor VIII or IX gene will
result in haemophilia.
 As it is an X-linked disease it is more common in males and rare in females.
This is because females have two copies of the X chromosome and the
heterozygous females for the gene are carriers of the disease. Therefore for a
female to be haemophilic, she should have two copies of the defective gene.

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20. Study the given pedigree chart in which neither of the parents shows the
trait but the trait is present in both male and female children.

Answer the following questions:

(a) Write about the trait also explain the inheritance of such trait in the
progeny on the basis of given pedigree chart.
(b) Give one example of such trait in human beings.

(a) In a given pedigree, it is clearly indicated that neither or the parent is affected
with the disease but both male and female children were affected. It is an example of
autosomal recessive disorder which can be explained by the following:
(i) There is a chance of both sexes being affected equally. It indicate the disease
causing gene is not linked to the sex chromosome but to the autosomes, therefore it
is an autosomal disorder.
(ii) The affected male and female children from the unaffected parents indicates that
the parents must be the carrier for disease, and thus the disease causing gene is not
expressed in them. Each affected child should have received a copy of gene from
both parents therefore, it is a recessive disorder.
(b) sickle cell anaemia is an example of autosomal recessive disorder in human
beings

LONG ANSWER TYPE QUESTIONS

5 MARK QUESTIONS
1. Differentiate between incomplete dominance and co-dominance.
Substantiate your answer with one example of each.
Incomplete dominance:
 It is a form of intermediate inheritance in which one allele for a specific trait is
not completely expressed over its paired allele. This results in a third
phenotype in which the expressed physical trait is a combination of the
phenotypes of both alleles.

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 Chapter 4 : Principles of Inheritance and Variation

Examples of incomplete dominance can be given by inheritance of flower colour

in the dog flower (Snapdragon or Antirrhinum sp.)
 In a cross between true-breeding red-flowered (RR) and true breeding white-
flowered plants (rr), the F1 progeny was pink (Rr).
 When the F1 was self-pollinated the F2 resulted in the ratio of 1 (RR) Red: 2
(Rr) Pink : 1 (rr) White.
 Here, the genotype ratios were exactly as we would expect in any Mendelian
monohybrid cross, but the phenotype ratios had changed from the 3 : 1,
dominant : recessive ratio.
 Since, R was not completely dominant over r, this made it possible to
distinguish Rr as pink from RR (red) and rr (white).
Co-dominance:
 In co-dominance, a heterozygous individual expresses both alleles
simultaneously without any blending.
 ABO blood grouping in human beings is an example of co-dominance.
 ABO blood groups are controlled by the gene I. The gene (I) has three alleles IA,
IB and i. The alleles AI and IB produce a slightly different form of the sugar
while allele i does not produce any sugar. Because humans are diploid
organisms, each person possesses any two of the three I gene alleles. IA and
IB are completely dominant over i, in other words when IA and i are present,
only IA expresses (because I does not produce any sugar), and when IB and i
are present IB expresses. But when IA and IB are present together they both
express their own types of sugars. This is because of co-dominance

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 Chapter 4 : Principles of Inheritance and Variation

 Since there are three different alleles, there are six different combinations of
these three alleles that are possible and therefore, a total of six different
genotypes of the human ABO blood types.

2. Describe the dihybrid cross upto F2 generation as conducted by Gregor

Mendel using pure lines of Garden Pea for characters seed shape and seed
colour.

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 Chapter 4 : Principles of Inheritance and Variation

When two pairs of traits are combined in a hybrid, segregation of one pair of
character is independent of the other pair of the characters.

3. State and explain the ”law of independent assortment” in a typical

Mendelian dihybrid cross.
(i) Law of Independent Assortment:
 When two pair of traits are combined in a hybrid, inheritance of one pair of
characters is independent of the other pair of characters / when two pairs of
contrasting characters or genes or traits are inherited together in a dihybrid
cross (in a pea plant) the inheritance of one pair of character is independent of
inheritance of the other character in the progeny.
 Explanation: Mendel took homozygous pea plant producing yellow and round
seeds, crossed them with homozygous pea plant producing green and wrinkled
seeds / shown in a flow chart of a dihybrid cross given.

Phenotypes-Yellow : Yellow : Green : Green round wrinkled round wrinkled

F2 Phenotype ratio-9 : 3 : 3 : 1
(Four different types of phenotypes in correct ratio)
(Formation of new phenotypes along with parental phenotypes is possible because
inheritance of two pairs of contrasting traits or genes in the progeny is independent
of each other).

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 Chapter 4 : Principles of Inheritance and Variation

4. In shorthorn cattle, the coat colours red or white are controlled by a single
pair of alleles. A calf which receives the allele for red coat from its mother and
the allele for white coat from its father is called a „roan‟. It has an equal
number of red and white hairs in its coat.
(a) Is this an example of co-dominance or of incomplete dominance?
(b) Give a reason for your answer.
(c) With the help of genetic cross explain what will be the consequent
phenotype of the calf when
(i) red is dominant over white
(ii) red is incompletely dominant.
(a) Co-dominance
(b) Co-dominance is a condition in which two different alleles for a genetic trait are
expressed. Individuals receive one version of a gene, called an allele, from each
parent.
(c) (i) If pure breeding red coated cattles are represented as ‗RR‘ and pure breeding
white coated as ‗rr‘. If Red is dominant over White. A cross between ‗RR‘ and ‗rr‘
would produce red coated cattles (RR) and white coated cattle (rr) in
the ratio of 3: 1.
Parents: RR (Red) X rr (White)
Gametes: R r
F1 generation- 3:1
(ii) If the red and white coated cattles produce pink colour on a cross then, they
exhibit incomplete dominance in the inheritance of coat colour due to which they
produce pink coloured coat upon hybridisation.
 If pure breeding red coated cattles are represented as ‗RR‘ and pure breeding
white coated as ‗rr‘, then the pink coated cattles are ‗Rr‘.
 A cross between ‗RR‘ and ‗rr‘ would produce pink coated cattles (Rr) and white
coated cattle (rr) in the ratio of 1 : 2 : 1

5. (i) What is polygenic inheritance? Explain with the help of suitable example.
(ii) How are pleiotropy and Mendelian pattern of inheritance different from
polygenic pattern of inheritance?
(i)
 Polygenic inheritance is the inheritance of traits that are produced by the
combined effect of many genes.
 A polygenic trait is controlled by more than one pair of non-allelic genes and
shows different types of phenotypes.

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 Chapter 4 : Principles of Inheritance and Variation

 For example, human skin colour is an example of polygenic inheritance. It is

caused by a pigment called melanin due to three pairs of polygenes (A, B and
C).
(ii)
 Mendelian inheritance refers to the expression of monogenic traits i.e., gene
expression is controlled by one gene.
 In a pair of alleles, the expression of the recessive gene is always masked by
the expression of a dominant gene.
 Pleiotropy is the ability of a gene to have multiple phenotypic effects because it
influences several characters simultaneously.
 Polygenic inheritance, on the other hand, is a type of inheritance controlled by
one or more genes in which the dominant alleles have a cumulative effect with
each dominant allele expressing a part or unit of the trait, the full being shown
only when all the dominant alleles are present.

6. Study the pedigree chart given below and answer the questions that follow:

(a) On the basis of the inheritance pattern exhibited in this pedigree chart,
what conclusion can you draw about the pattern of inheritance? [1]
(b) If the female is homozygous for the affected trait in this pedigree chart,
then what percentage of her sons will be affected ? [1]
(c) Give the genotype of offsprings 1,2,3 and 4 in III generation. [1]
(d) In this type of inheritance pattern, out of male and female children which
one has less probability of receiving the trait from the parents. Give a
reason.[2]

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 Chapter 4 : Principles of Inheritance and Variation

(a) X- linked, Recessive trait

(b) 100%
(c) 1. XY OR XY, 2. XX, 3. XY, 4. XX
(d) The possibility of the female getting the trait is less. The female will get the trait
only if the mother is at least a carrier and the father is affected.

7. Thalassaemia and Haemophilia are both Mendelian disorders related to

blood. Write the symptoms of the diseases. Explain with the help of crosses
the difference in the inheritance pattern of the two diseases.

Difference in inheritance pattern:

Haemophilia:
 It is a sex-linked (X-linked) recessive disorder, inherited from a haemophilic
father (XhY) or carrier mother (XhX).
 Females are haemophilic only in homozygous double recessive state (XhXh)
but such females die before birth.

Thalassaemia:
 It is caused by haemolytic anaemia. It shows autosomal recessive pattern of
inheritance and is controlled by two pairs of alleles (HBA1 & HBA2).
 The effect is more pronounced when the defective gene occur in homozygous
state, causing thalassaemia major.
 In the heterozygous state, the adverse effect of thalassaemia is minor. The trait
(Thalassaemia) is inherited as autosomal recessive. This is found equally in
both males and females.
 However the defective alleles for thalassaemia in both males and females
unlike haemophilia expresses itself only when it is in homozygous condition.
The heterozygote for recessive trait remain unnoticed but act as heterozygous
carriers.

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 Chapter 4 : Principles of Inheritance and Variation

8. (i) State the cause and symptoms of colour blindness in humans.

(ii) Statistical data has shown that 8% of the human males are colour-blind
whereas only 0.4% of females are colour-blind. Explain giving reasons how is it
so.
(i)
 The colour blindness is due to recessive sex linked disorder.
 In this disorder of vision the patient is unable to distinguish between red and
green colour.
 The gene for colour blindness is located on the X chromosome.
(ii)
 The colour blindness is found in about 8% of the males and only 0.4% of the
females.
 The greater prevalence of the colour blindness in males is due to the presence
of only one X chromosome and the hemizygous (X and Y) expression of the
allele for colour blindness i.e., if gene for colour blindness is present on the X-
chromosome of male then it will always express while in case of females the
incidence of disease of colour blindness is possible only in homozygous
condition (XCXC) i.e., if both the X-chromosomes carry the allele (XCXC) for
colour blindness.
 The occurrence of the allele for colour blindness on one of the X chromosome
makes the female a carrier XCX.

9. The chromosome number is fixed for all normal organisms leading to species
specification whereas any abnormality in the chromosome number of an
organism results into abnormal individuals. For example, in humans 46 is the
fixed number of chromosomes both in male and female. In male it is „44+ XY
and in female it is egg 44 + XX‟ Thus the human male is heterogametic, other
words produces two different types of gametes one with 22 + X‟ chromosomes
and the other with Y chromosomes respectively. Human female, on the other

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 Chapter 4 : Principles of Inheritance and Variation

hand is homogametic i.e. produces only one type of gamete with “ 22 +X”
chromosomes only. Sometimes an error may occur during meiosis of cell cycle,
where the sister chromatids fail to segregate called nondisjunction, leading to
the production of abnormal gametes with altered chromosome number. On
fertilisation such gametes develop into abnormal individuals.
(a) State what is aneuploidy?
(b) If during spermatogenesis, the chromatids of sex chromosomes fail to
segregate during meiosis, write only the different types of gametes with
altered chromosome number that could possibly be produced.
(c) A normal human sperm (22 + Y) fertilises an ovum with karyotype 22 + XX‟
Name the disorder the offspring thus produced would suffer from and write any
two symptoms of the disorder.

OR
(c) Name a best known and most common autosomal aneuploid abnormality in
human and write any two symptoms.

(a)
Aneuploidy is a type of chromosomal aberration, where there is one extra
chromosome or one missing chromosome.
(b)
Due to non-disjunction of chromatids during spermatogenesis, some sperms
will carry both sex chromosomes and some sperms will not carry any
sex chromosome.
(c)
If a normal human sperm (22 + Y) fertilizes an ovum with karyotype 22+XX, the
zygote will have the karyotype 44 + XXY. This is trisomy of X-chromosome. It results
in the disorder called Klinefelter syndrome. Features of affected individual: Overall
masculine development, however, the feminine development is also expressed. e.g.,
(i) Development of breast (Gynaecomastia).
(ii) Sterile.
(iii) Mentally retarded

OR
(c)
Down‘s syndrome is the best known and most common autosomal aneuploid
abnormality. Features of affected individual:

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 Chapter 4 : Principles of Inheritance and Variation

(i) They are short statured with small round head.

(ii) Broad flat face.
(iii) Furrowed big tongue and partially open mouth.
(iv) Many ―loops‖ on finger tips.
(v) Palm is broad with characteristic palm crease.
(vi) Retarded physical, psychomotor and mental development.
(vii) Congenital heart disease.

10. (a) Why did T.H. Morgan select Drosophila melanogaster for his
experiments?
(b) How did he disprove the Mendelian dihybrid F2 phenotypic ratio of 9:3:3:1?
Explain giving reasons.
(a)
Thomas Hunt Morgan chose Drosophila as his experimental model because,
(i) It breeds very quickly.
(ii) They complete their life cycle in about two weeks. Therefore, breeding can be
done throughout the year.
(iii) They can be grown on a simple synthetic medium in the laboratory.
(iv) Easily distinguishable male and female.
(v) Hereditary variations can be seen with low power microscopes.
(b)
Morgan carried out several dihybrid crosses in Drosophila to study sex-linked genes.
He found that the two genes did not segregate independently of each other and the
F2 ratio deviated from the 9:3:3:1 ratio (expected when the two genes are
independent).

11.(a) A cross was carried out between two pea plants showing the contrasting
traits of height of the plant. The result of the cross showed 50% of parental
characters.
(i) Work out the cross with the help of a Punnett square.
(ii) Name the type of the cross carried out.
(b) How does a test cross helps in identifying the genotype of the organism?
Explain.
(a)
Two contrasting characters of height of pea plant are tall and dwarf. In the given
cross, if 50% of the progeny shows parental characters, then it must be a cross
between a heterozygous tall and a homozygous recessive dwarf parent

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 Chapter 4 : Principles of Inheritance and Variation

(b)
Test cross is a type of cross used to identify whether an individual is homozygous or
heterozygous for dominant character. The individual is crossed with homozygous
recessive parent for the trait being investigated. Tall plant could have two possible
genotypes : TT and Tt

 Case I : Tall (homozygous) pea plant crossed with dwarf pea plant.

 If plant produces tall plants as offspring, then the genotype of this type of
plant is TT, i.e., homozygous tall plant.

 Case II : Tall (heterozygous) pea plant is crossed with dwarf pea plant

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 Chapter 4 : Principles of Inheritance and Variation

12. State three principles of Mendel's law of inheritance. Using Punnett square
demonstrate the law of independent assortment in a dihybrid cross involving
two heterozygous parents.
The three principles of Mendel‘s law of inheritance are :
(i) Law of dominance : This law explains that when two individuals of a species,
differing in a pair of contrasting forms of a trait are crossed, the form of the trait
that appears in the F1 hybrid is dominant and the alternate form that remains
hidden, is called recessive.
(ii) Law of segregation : This law states that the members of the allelic pair that
remained together in the parent, segregate during gamete formation and only one
factor enters a gamete.
(iii) Law of independent assortment : This states that in the inheritance of two
pairs of contrasting characters, the factors of each pair of characters segregate
independently of the factors of the other pair of characters.
 The principle or law of independent assortment can be studied by means of
dihybrid cross between heterozygous parents having YyRr genotype. This
can be demonstrated through Punnett square as follows:

Phenotypic ratio obtained is:

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 Chapter 4 : Principles of Inheritance and Variation

Yellow round : 9
Yellow wrinkled : 3
Green round : 3
Green wrinkled : 1
 Thus, the phenotypic ratio of a dihybrid cross is 9 : 3 : 3 : 1.
 The occurrence of four types of plants (parental types) in the F2 generation
of dihybrid cross shows that the factors of each of the two characters assort
independently of the other as if the other pair of factor are not present.

CASE BASED QUESTIONS

FOUR MARK QUESTIONS

1. Study the pedigree chart given below and answer the questions that follow:

(a) On the basis of the inheritance pattern exhibited in this pedigree chart,
what conclusion can you draw about the pattern of inheritance? 1 mark
(b) If the female is homozygous for the affected trait in this pedigree chart,
then what percentage of her sons will be affected? 1 mark
(c) Give the genotype of offspring 1, 2, 3 and 4 in third generation. 2 marks
OR
In this type of inheritance pattern, out of male and female children which one
has less probability of receiving the trait from the parents? Give a reason.
(a)
X- linked, Recessive trait 1
(b)
100% 1
(c)
1. XY, 2. XX, 3. XY, 4. XX 2

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 Chapter 4 : Principles of Inheritance and Variation

OR
 The possibility of the female getting the trait is less. The female will get the
trait only if the mother is at least a carrier and the father is affected.

2. In 1900, three Scientists (de Vries, Correns and von Tschermak)

independently rediscovered Mendel‟s results on the inheritance of characters.
Also, by this time due to advancements in microscopy that were taking place,
scientists were able to carefully observe cell division. This led to the discovery
of structures in the nucleus that appeared to double and divide just before
each cell division. These were called chromosomes.

(i) Explain the process of chromosome segregation during gamete formation

and how it relates to Mendelian principles. (1 mark)
(ii) Describe the experimental approach used by Thomas Hunt Morgan and his
colleagues to verify the chromosomal theory of inheritance. (2 marks)
(iii) How do chromosomes segregate during meiosis, and what is the
significance of this process in producing genetic variation? (1mark)
OR
(iii) Explain the significance of the chromosomal theory of inheritance in
understanding patterns of inheritance. (1 mark)

(i) During gamete formation, chromosomes occur in pairs and segregate such that
only one of each pair is transmitted to a gamete. This segregation is independent,
meaning one pair segregates independently of another pair.

(ii) Morgan and his colleagues worked with Drosophila melanogaster, commonly
known as fruit flies, for their experiments. They utilized the clear differentiation of
sexes in fruit flies and the ability to observe hereditary variations under low power
microscopes. By conducting controlled matings and observing the inheritance

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 Chapter 4 : Principles of Inheritance and Variation

patterns of traits, they demonstrated how genes were located on chromosomes and
behaved according to Mendelian principles.

(iii) During meiosis, chromosomes segregate in pairs, and each pair aligns
independently at the metaphase plate during anaphase I. This independent assort,
ment results in the random distribution of maternal and paternal chromosomes into
gametes, contributing to genetic variation. The exchange of genetic material between
homologous chromosomes during crossing over in prophase I also enhances genetic
diversity.
OR
The chromosomal theory of inheritance, proposed by Sutton and Boveri and
later verified by Morgan and his colleagues, unified the principles of Mendelian
inheritance with the behavior of chromosomes during cell division. It provided a
framework for understanding how genes are transmitted from one generation to the
next and how genetic variation arises through processes such as independent
assortment and crossing over. This theory laid the foundation for modern genetics
and revolutionized our understanding of inheritance patterns.

3. Supriya disclosed her wish to marry Sumit to her parents. Her parents
opposed her decision as Sumit's family is known to inherit haemophilia.
Supriya told her parents that Sumit is not haemophilic, still her parents
resisted and opposed her decision. But she convinced her parents by giving
proper scientific explanation for this.
(a) Why is haemophilia a cause of concern for Supriya's parents?
(b) What values do Supriya reflect from this incident?
(c) Is her parents' fear justified? How do you think she might have convinced
them? Explain.
(a)
 Haemophilia is a sex-linked recessive disorder caused due to the presence
of recessive gene h, carried by X-chromosome.
 The haemophilic patient lacks blood clotting factor VIII and IX, essential for
process of clotting. Hence, the patient may continue to bleed even from a
minor cut and may die due to excessive blood loss.
 Since the gene causing the disease is sex linked and shows criss-cross
inheritance, it is known to run in families. This is the major reason of
concern for Supriya's parents.
(b)

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 Supriya seems to be mature, thoughtful, intelligent and well aware of the

inheritance pattern of genetic disease.
 She is optimistic and bold to stand and justify her decision with proper
scientific explanation.
(c)
 No, her parents' fear is not justified. Her parents are not aware of the
inheritance pattern of the disease haemophilia.
 Since, Supriya knows that Sumit is not haemophilic she might have
convinced her parents by explaining that the haemophilic gene 'h' is carried
by 'X' chromosome only. In case of males, a single 'Xh' allele present on X-
chromosome causes the disease, but as Sumit is not haemophilic and does
not bear 'Xh' gene, it indicates that he cannot pass on the disease to his
children.
On the other hand, Supriya's family is not known to have this disorder. It is only
when she is carrying an allele Xh in one of her X-chromosomes (acts as carrier),
there is probability of occurrence of haemophilia in further generations, i.e., sons. In
such case, only sons would show diseased condition while daughters would be the
carrier, as females become haemophilic only when both of its X-chromosomes carry
the gene XhXh. However, the latter condition is rare.

4. Ravi and Aabha are a happily married couple. A child suffering from sickle
cell anaemia is born to them, but only Aabha was blamed by the family for
delivering a sick child.
(a) What is sickle-cell anaemia?
(b) How would you counsel the family to not blame Aabha for delivering a
child suffering from sickle-cell anaemia? What good values would your
counselling propagate in the family?

(a)
 Sickle-cell anaemia is an autosomal recessive disorder. When two
heterozygous individual marry (carrier for sickle cell anaemia), they produce
a child suffering from the disorder.
 In this disorder the erythrocytes become sickle shaped under oxygen
deficiency states, such as during strenuous exercise and at high altitudes.
It is caused by the formation of an abnormal haemoglobin called
haemoglobin –S.
 In sickle-cell anaemia, haemoglobin-S differs from normal haemoglobin-A
in only one amino acid— 6th amino acid of β-chain, (glutamic acid is

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 Chapter 4 : Principles of Inheritance and Variation

replaced by valine) due to substitution (transversion) of T by A in the

second position of the triplet codon CTC which is changed to CAC in the
β-haemoglobin gene situated on chromosome 11.
 During conditions of oxygen deficiency 6-valine forms hydrophobic bonds
with complementary sites of other globin molecules. It distorts their
configuration.
As a result, erythrocytes having haemoglobin-S become sickle-shaped.
The cells cannot pass through narrow capillaries. They have a tendency to
aggregate and degenerate.
They, therefore, clog blood capillaries. Blood circulation and oxygen supply
to the affected tissues is disturbed. Spleen and brain can get damaged. The
patient feels acute physical weakness. The homozygotes having only
haemoglobin-S usually die before reaching maturity because erythrocyte
distortion and degeneration occur even under normal oxygen tension.
(b)
 A sickle-cell anaemic child can be born only to a carrier couple. Thus,
Aabha cannot solely be blamed for the birth of a sickle-cell anaemic child
and Ravi is equally responsible for this disorder.
 The counselling can encourage the family to understand that both mother
and father are responsible for any autosomal disorders.
 A child inherits its characters from both of the parents and not just from
mother only. It will help Aabha to upgrade her condition in such an
orthodox family.

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