Principles of inheritance and variation Important questions with answers

One marks questions.

1. What is an allele?
An alternate form of a gene for a character present on same loci of two homologous chromosomes.
2. State the law of segregation.
During gamete formation, the factors (alleles) of a character pair present in parents segregate
from each
other such that a gamete receives only one of the 2 factors.
3. What is pedigree analysis?
An analysis of genetic traits in several generations of a family is called pedigree analysis.
4. Who proposed the chromosomal theory of inheritance?
Chromosomal Theory of Inheritance was proposed by Walter Sutton & Theodore Boveri.
5. Define linkage.
Linkage is the physical association of two or more genes on a chromosome.
6. Define recombination.
Recombination is the generation of non-parental gene combinations. It occurs due to
independent assortment or crossing over.
7. Define mutation.
A sudden heritable change in DNA sequences resulting in changes in the genotype and the phenotype of
an
organism is called mutation.
8. What is frame shift mutation?
It is the deletion or insertion of base pairs resulting in the shifting of DNA sequences.

Two marks questions.

9. What are mutagens? Give examples.
The agents which induce mutation are called
mutagens. Examples;
 Physical mutagens: UV radiation, α, β, γ rays, X-ray etc.
 Chemical mutagens: Mustard gas, phenol, formalin
10. Name the enzyme that is not produced due to gene mutation which causes
phenylketonuria.
Phenyl alanine hydroxylase
11. What is point mutation? Give one example.
The mutation due to change (substitution) in a single base pair of DNA. E.g. sickle cell anaemia.
12. What are Mendelian disorders? Give two examples.
It is caused by alteration or mutation in the single gene and the disorders can be traced in a family by
the
pedigree analysis.
E.g. Haemophilia, Colour blindness, Sickle-cell anaemia, Phenylketonuria, Thalassemia, Cystic fibrosis
etc.
13. What is aneuploidy? Give reason for aneuploidy.
The gain or loss of chromosomes due to failure of segregation of chromatids during cell division.
14. What is polyploidy? Give reason for polyploidy.
It is an increase in a whole set of chromosomes due to failure of cytokinesis after telophase stage of
cell
division.
15. Distinguish between homozygous and heterozygous
alleles. Homozygous – Individual having similar genes in allelic
pair (TT &tt). Heterozygous- Individual having dissimilar genes in
allelic pair (Tt).
16. What is test cross? Mention its significance.
Cross between F1 hybrid and its recessive parent is called test cross. It helps to know the genotype of F1
hybrid.

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Principles of inheritance and variation Important questions with answers
17. What are multiple alleles? Give an example.
It is the presence of more than two alleles of a gene to govern same
A B
character. E.g. ABO blood grouping (3 alleles: I , I & i).
18. What is pleotrophic gene? Give an example.
A single gene exhibits multiple phenotypic expressions. Such a gene is called pleiotropic gene.
E.g. Starch synthesis in pea, sickle cell anemia, phenylketonuria etc.
19. What is polygenic inheritance? Give an example.
An expression of a trait is controlled by three or more number of genes is called polygenic inheritance.
Human skin colour is regulated by three pairs of cumulative genes A, B and C.
20. What is co dominance? Explain with reference to human blood group.
It is the inheritance in which both the dominant alleles of a gene are expressed equally in a hybrid.

E.g. ABO blood grouping in human controlled by gene I has three alleles IA, IB & i. When IA and IB
are present together, they both express their own types of sugars. This is due to co-dominance.
21. Mention the possible genotypes of all the blood groups in individuals.
Genotype Blood group
A A A
I I ,I i - A
B B B
I I ,I i - B
A B -
I I AB
ii - O
22. Write the homozygous genotypes of A, B and O blood groups.
Genotype Blood types
A A
I I - A
IBIB - B
ii - O

Three marks questions.

23. Mention the features of Law of Dominance observed by Mendel.
 Characters are uncontrolled by discrete unit called factors
 Factors occur in pairs
 In a dissimilar pair of factor one member of the pair dominates (dominant) the other (recessive).
24. Write the reason for Mendel selected pea plant his experiment.
 Pea plants are small and could be grown in limited area.
 They had rapid life cycles. Hence in short time many plants could be grown.
 They had easily observable variations.
 Either they could be self-pollinated or cross pollinated by artificial breeding.
 Large number of progeny could obtain in short time.
 Pea has many distinct alternative traits (clear contrasting characters).
25. Mention the contrasting pair of character Mendel selected in pea plant.
Contrasting Traits
7 Characters
Dominant
Recessive
1. Stem height Tall Dwarf
2. Flower colour Violet White
3. Flower position Axial Terminal
4. Pod shape Inflated Constricted
5. Pod colour Green Yellow
6. Seed shape Round Wrinkled
7. Seed colour Yellow Green
26. Mention the reason why Mendel’s work remained unrecognized for a long time.
 Communication was not easy.
 His mathematical approach was new and unacceptable.

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Principles of inheritance and variation Important questions with answers
 The concept of genes (factors) as stable and discrete units could not explain the continuous
variation seen in nature.
 He could not give physical proof for the existence of factors.
27. Write the parallelism between the behavior of chromosomes and genes.
Genes Chromosomes
 Genes occur in pairs (alleles)  Occur in pairs (Homologous )
 Segregate during the formation  Segregate during the formation of
of gamete and only one allele of a gamete and only one chromosome of a
pair is transmitted. homologous pair is transmitted.
 Independent pairs  One pair segregates independently of another
segregate pair.
independently of each other.

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28. Why has T.H. Morgan selected fruit flies for his genetic experiments?
 They can be grown easily in laboratory by feeding simple synthetic media.
 Life span is short (2 weeks).
 Sexes are separate and sexual dimorphism is present.
 In one mating more progeny can be obtained.
 Variations are present.
 Number of chromosomes (2n = 8) are less and number of genes are also less.
29. What are the conclusions drawn by T.H. Morgan from the crossing experiment in
Drosophila with Respect to linkage?
Morgan found that even when genes were grouped on the same chromosome is called linkage and
some genes were very tightly linked show low recombination and loosely linked genes show high
recombination.
30. What is male heterogamety? Explain the sex determination mechanism in humans.
In organisms male individuals have heterozygous
allosomes/sex chromosome.
Human has 23 pairs of chromosomes (22 pairs of
autosomes and 1 pair of sex chromosomes).
A pair of X-chromosomes (XX) is present in the
female, whereas X and Y chromosomes
are present in male.

31. Explain the mechanism of XO-type of sex determination in insects.

Here, male is heterogametic, i.e. XO
(Gametes with X and gametes without X)
and female is
homogametic, i.e. XX (all gametes are with
X- chromosomes).
E.g. Many insects such as grasshopper.

32. What is female heterogamety? Explain sex determination in birds.

In organisms female individuals
have heterozygous allosomes/sex
chromosome is
called female heterogamety.
In birds (ZZ-ZW mechanism) male is
homogametic (ZZ) and female is heterogametic
(Z & W).

33. Describe the haplo-diploidy sex determination in Honey bees.

In honey bee Fertilised egg develops
as a female (queen or worker).
An unfertilised egg develops as a male
(drone) without fertilisation is called
parthenogenesis. Therefore, the
females are diploid (32 chromosomes)
and males are haploid (16
chromosomes). This is called as
haplodiploid sex determination system.
34. What is haemophilia? And write the genotypes of haemophilia.
It is a sex linked (X-linked) recessive disease.
In this, a protein involved in the blood clotting is affected. A simple cut results in non-stop bleeding.
The disease is controlled by 2 alleles, H & h. H is normal allele and h is responsible for haemophilia.
XHXH Normal female

Heterozygous female (carrier). She

XH X h
may transmit the disease to sons.
XhXh Hemophilic female

XHY Normal male

XhY Hemophilic male

35. Write a note on colour blindness.
It is a sex-linked (X-linked) recessive disorder due to defect in either red or green cone of eye. It results
in
failure to discriminate between red and green colour.
It is due to mutation in some genes in X chromosome.
Normal allele is dominant (C). Recessive allele (c) causes colour blindness.
C c
The son of a heterozygous woman (carrier, X X ) has a 50% chance of being colour blind.
A daughter will be colour blind only when her mother is at least a carrier and her father is
colour blind
c
(X Y).
36. The shape of RBCs of Sickle cell anemia patients change to elongated sickle like
structure. Give reason.
This is an autosome linked recessive disease.
It can be transmitted from parents to the offspring when both the partners are carrier (heterozygous) for
the
gene.
The disease is controlled by a pair of allele, HbA and HbS.
 Homozygous dominant (HbAHbA): Normal
 Heterozygous (HbAHbS): carrier; sickle cell trait
 Homozygous recessive (HbSHbS):
affected
The defect is caused by the substitution of Glutamic acid (Glu) by Valine (Val) at the sixth position of
the β- globin chain of the haemoglobin (Hb).
37. What is phenylketonuria? Mention the causes and effects of phenylketonuria.
An inborn error of metabolism and autosomal recessive disease.
It is due to mutation of a gene that codes for the enzyme phenyl alanine hydroxylase. This enzyme
converts an amino acid phenylalanine into tyrosine.
The affected individual lacks this enzyme. As a result, phenylalanine accumulates and converts into
phenyl pyruvic acid and other derivatives.
They accumulate in brain resulting in mental retardation. These are also excreted through urine
because of poor absorption by kidney.
38. Write the karyotype and symptoms of Down’s syndrome.
Genetic constitution: 45 A + XX or 45 A + XY (i.e. 47
chromosomes). Symptoms:
 They are short statured with small round head.
 Broad flat face.
 Furrowed big tongue and partially open mouth.
 Many “loops” on finger tips.
 Broad palm with characteristic palm simian crease.
 Retarded physical, psychomotor & mental development.
 Congenital heart disease.
39. Write the karyotype and symptoms of klinefelter’s
syndrome Genetic constitution: 44 A + XXY (i.e. 47
chromosomes). Symptoms:
 Appears like feminized males.
 Overall masculine development. However, the feminine development is also expressed.
E.g. Development of breast
(Gynaecomastia).
 Male secondary sexual characters are not developed.
 Sterile.
 Low levels of testosterone.
 Mentally retarded.
40. Write the karyotype and symptoms of Turner’s
syndrome. Genetic constitution: 44 A + X0 (i.e. 45
chromosomes). Symptoms:
 Sterile, Ovaries are rudimentary.
 Lack of other secondary sexual characters.
 Menstrual cycles are absent.
 Dwarf.
 Mentally retarded.
 Sterile females susceptible to heart diseases and osteoporosis.

Five marks questions.

41. Explain inheritance of one gene with reference to height of pea plant.
Monohybrid cross: A cross involving 2 plants differing in one character pair.
E.g. Mendel crossed tall and dwarf pea plants to study the inheritance of one gene.

Monohybrid phenotypic ratio: 3 Tall: 1 Dwarf = 3:1

Monohybrid genotypic ratio: = 1:2:1
1 Homozygous tall (TT)
2 Heterozygous tall (Tt)
1 Homozygous dwarf (tt):
42. What is incomplete dominance? Explain inheritance of flower colour in snapdragon.
It is an inheritance in which heterozygous offspring shows intermediate character b/w two
parental characteristics. E.g. Flower colour in snapdragon (dog flower or Antirrhinum sp.) and
Mirabilis jalapa
(4’O clock plant).
Here, cross between homozygous red & white produces pink flowered plant. Thus phenotypic &
genotypic
ratios are same.

Phenotypic ratio= 1 Red: 2 Pink: 1 White

Genotypic ratio= 1 (RR): 2 (Rr): 1(rr) This means that R was not completely dominant over r.
43. What is law of independent assortment? Give the schematic representation of
dihybrid cross experiment conducted by Mendel to propose law of independent assortment.
It is a cross between two parents differing in 2 pairs of contrasting characters. E.g. Cross b/w pea plant
with
round shaped & yellow coloured seeds (RRYY) and wrinkled shaped & green coloured seeds (rryy).
Dihybrid Phenotypic ratio = 9:3:3:1
9 Round yellow: 3 Round green: 3 Wrinkled yellow: 1 Wrinkled green
Dihybrid genotypic ratio: 1:2:2:4:1:2:1:2:1