PRINCIPLES OF INHERITANCE AND VARIATION
Class 12 Biology — Important Questions with Answers (CBSE / NCERT Pattern)
This question bank covers the NCERT chapter Principles of Inheritance and Variation, compiled in line with
frequently repeated CBSE board exam / PYQ patterns. Sections: 20 one-mark (definitions & one-word), 20 MCQs,
15 two-mark, 10 three-mark, and 10 five-mark (point-wise) questions.
SECTION A | ONE MARK QUESTIONS (Definitions / One-word) — 20 Qs
1. Define gene.
Ans. The unit of inheritance that carries information for a specific trait and is passed from parents to
offspring; a segment of DNA occupying a particular locus on a chromosome.
2. Define allele.
Ans. Alternative forms of the same gene that occupy the same locus on homologous chromosomes
and govern the same trait.
3. What is a phenotype?
Ans. The observable physical/biochemical characteristics of an organism, resulting from the
expression of its genotype.
4. What is a genotype?
Ans. The genetic constitution of an organism for a particular trait.
5. Define homozygous.
Ans. A condition where an organism carries two identical alleles for a given gene/trait (e.g., TT or tt).
6. Define heterozygous.
Ans. A condition where an organism carries two different alleles for a given gene/trait (e.g., Tt).
7. What is a test cross?
Ans. A cross between a hybrid (of unknown genotype, showing dominant phenotype) and its
homozygous recessive parent, used to determine the genotype of the hybrid.
8. Define dominance.
Ans. The phenomenon in which one allele of a gene pair (dominant) masks the expression of the
other allele (recessive) in a heterozygote.
9. What is co-dominance?
Ans. A condition in which both alleles of a gene pair are fully and simultaneously expressed in the
heterozygote, without either being dominant over the other (e.g., AB blood group).
10. Define pleiotropy.
Ans. The phenomenon in which a single gene influences/controls multiple, seemingly unrelated
phenotypic traits (e.g., in Starch synthesis of pea, or phenylketonuria).
11. What is linkage?
Ans. The tendency of genes located close together on the same chromosome to be inherited
together, rather than independently, during gamete formation.
12. Define crossing over.
Ans. The exchange of genetic material (segments) between non-sister chromatids of homologous
chromosomes during meiosis (prophase I), leading to recombination.
13. What is a karyotype?
Ans. The complete set of chromosomes of an individual/species, arranged and described in terms of
number, size, and shape.
14. Define aneuploidy.
Ans. A chromosomal abnormality resulting from the gain or loss of one or more individual
chromosomes from the normal diploid set (e.g., trisomy, monosomy).
15. What is polyploidy?
Ans. A condition in which an organism possesses more than two complete sets of chromosomes
(e.g., triploid, tetraploid).
16. Define mutation.
Ans. A sudden, heritable change in the sequence of DNA/genetic material of an organism.
17. What is a point mutation?
Ans. A mutation involving a change in a single base pair of DNA (e.g., substitution, as seen in sickle
cell anaemia).
18. Define Barr body.
Ans. The condensed, inactive X-chromosome seen as a darkly stained mass in the somatic cell
nuclei of female mammals, formed due to X-inactivation.
19. What is a pedigree?
Ans. A chart/diagram representing the pattern of inheritance of a specific trait through several
generations of a family.
20. Define Down's syndrome.
Ans. A genetic disorder caused by trisomy of chromosome 21 (an extra copy), characterised by short
stature, flat facial features, and mental retardation.
SECTION B | MULTIPLE CHOICE QUESTIONS — 20 Qs
1. Mendel conducted his hybridisation experiments mainly on:
(a) Drosophila (b) Garden pea (Pisum sativum) (c) Maize (d) Mice
Ans. (b) Garden pea (Pisum sativum)
2. The phenotypic ratio obtained in a monohybrid cross (F2 generation) is:
(a) 9:3:3:1 (b) 1:2:1 (c) 3:1 (d) 1:1
Ans. (c) 3:1
3. The genotypic ratio obtained in a monohybrid cross (F2 generation) is:
(a) 3:1 (b) 1:2:1 (c) 9:3:3:1 (d) 1:1:1:1
Ans. (b) 1:2:1
4. The dihybrid cross phenotypic ratio in F2 is:
(a) 9:3:3:1 (b) 3:1 (c) 1:2:1 (d) 1:1:1:1
Ans. (a) 9:3:3:1
5. Mendel's Law of Independent Assortment applies to:
(a) Genes on the same chromosome only (b) Two or more pairs of genes located on different
chromosomes (or far apart) (c) Sex-linked genes only (d) Only recessive genes
Ans. (b) Two or more pairs of genes located on different chromosomes (or far apart)
6. In a test cross, a hybrid is crossed with:
(a) Another hybrid (b) Its homozygous dominant parent (c) Its homozygous recessive parent (d) An
unrelated individual of unknown genotype
Ans. (c) Its homozygous recessive parent
7. The human blood group system exhibiting both dominance and co-dominance is:
(a) Rh system (b) MN system (c) ABO blood group system (d) None of these
Ans. (c) ABO blood group system
8. A cross between red-flowered (RR) and white-flowered (rr) Mirabilis jalapa produces F1 with
pink flowers; this illustrates:
(a) Complete dominance (b) Incomplete dominance (c) Co-dominance (d) Epistasis
Ans. (b) Incomplete dominance
9. The chromosomal theory of inheritance was proposed by:
(a) Mendel (b) Sutton and Boveri (c) Morgan (d) Watson and Crick
Ans. (b) Sutton and Boveri
10. Thomas Hunt Morgan's experiments on linkage and crossing over were conducted on:
(a) Pea plant (b) Drosophila melanogaster (c) Human (d) Maize
Ans. (b) Drosophila melanogaster
11. In humans, sex of the child is determined by the chromosome contributed by:
(a) Mother (X or Y) (b) Father (X or Y) (c) Both parents equally decide via autosomes (d) Neither, it
is random
Ans. (b) Father (X or Y)
12. A human female has the sex chromosome constitution:
(a) XY (b) XX (c) XO (d) XXY
Ans. (b) XX
13. Klinefelter's syndrome is characterised by the karyotype:
(a) 44+XO (b) 44+XXY (c) 44+XYY (d) 44+XXX
Ans. (b) 44+XXY
14. Turner's syndrome results from:
(a) Trisomy of chromosome 21 (b) Monosomy of X chromosome (44+XO) (c) An extra Y
chromosome (d) Triploidy
Ans. (b) Monosomy of X chromosome (44+XO)
15. Down's syndrome is due to trisomy of chromosome number:
(a) 13 (b) 18 (c) 21 (d) 23
Ans. (c) 21
16. Sickle cell anaemia is caused by:
(a) A chromosomal aneuploidy (b) A point mutation causing glutamic acid to be replaced by valine in
haemoglobin (c) A deletion of an entire chromosome (d) Polyploidy
Ans. (b) A point mutation causing glutamic acid to be replaced by valine in haemoglobin
17. Haemophilia is inherited as a:
(a) Autosomal dominant trait (b) X-linked recessive trait (c) Y-linked trait (d) Autosomal recessive
trait
Ans. (b) X-linked recessive trait
18. Colour blindness in humans is:
(a) Autosomal dominant (b) X-linked recessive (c) Y-linked (d) Mitochondrial
Ans. (b) X-linked recessive
19. The phenomenon in which the heterozygote shows a phenotype intermediate between the
two homozygotes is called:
(a) Co-dominance (b) Incomplete dominance (c) Epistasis (d) Pleiotropy
Ans. (b) Incomplete dominance
20. Which scientist is known as the 'Father of Genetics'?
(a) Charles Darwin (b) Gregor Johann Mendel (c) Hugo de Vries (d) T.H. Morgan
Ans. (b) Gregor Johann Mendel
SECTION C | TWO MARK QUESTIONS — 15 Qs
1. State Mendel's Law of Dominance.
Ans. In a cross between two homozygous individuals differing in one trait, only one form of the trait
(the dominant allele) is expressed in the F1 hybrid, while the other (recessive) form remains
hidden/unexpressed; the recessive form reappears in the F2 generation.
2. State Mendel's Law of Segregation.
Ans. The two alleles of a gene pair separate (segregate) from each other during gamete formation
such that each gamete receives only one allele of the pair, and the alleles retain their identity without
blending (also called the Law of Purity of Gametes).
3. State Mendel's Law of Independent Assortment.
Ans. When two pairs of traits (genes located on different chromosome pairs) are considered together
in a cross, the alleles of one gene pair segregate/assort independently of the alleles of the other gene
pair during gamete formation.
4. Why did Mendel choose the garden pea for his experiments (any two reasons)?
Ans. The garden pea has several easily distinguishable, contrasting characters (traits) and is
normally self-pollinating, allowing pure breeding lines to be maintained, while also being amenable to
artificial cross-pollination for experimental crosses.
5. What is a test cross? Why is it performed?
Ans. A test cross is a cross between an organism showing a dominant phenotype (of unknown
genotype) and a homozygous recessive individual. It is performed to determine whether the
dominant-phenotype individual is homozygous or heterozygous for that trait, based on the phenotypic
ratio of the offspring.
6. Differentiate between incomplete dominance and co-dominance with one example each.
Ans. In incomplete dominance, the heterozygote shows an intermediate phenotype between the two
parental (homozygous) phenotypes, e.g., pink flowers in Mirabilis jalapa (cross of red RR and white
rr). In co-dominance, both alleles are fully and simultaneously expressed in the heterozygote without
blending, e.g., the AB blood group in humans, where both A and B antigens are expressed.
7. What is the chromosomal theory of inheritance?
Ans. Proposed by Sutton and Boveri, it states that genes are located on chromosomes, and the
behaviour of chromosomes during meiosis (segregation and independent assortment) parallels the
inheritance pattern of Mendelian factors (genes), thereby providing a physical basis for Mendel's laws.
8. What is linkage? How does it affect independent assortment?
Ans. Linkage is the tendency of two or more genes located close together on the same chromosome
to be inherited together rather than independently. Since linked genes do not assort independently,
they show a higher frequency of parental-type combinations in offspring than expected under
Mendel's Law of Independent Assortment.
9. Differentiate between complete linkage and incomplete linkage.
Ans. In complete linkage, genes located very close together on a chromosome are inherited together
with almost no recombination between them (rare, e.g., seen in male Drosophila). In incomplete
linkage, genes are farther apart, so crossing over occurs between them at a low frequency, resulting
in a small proportion of recombinant offspring along with mostly parental types.
10. What is a pedigree analysis, and why is it useful?
Ans. Pedigree analysis is the study of the inheritance of a particular trait through several generations
of a family, represented in the form of a family tree/chart using standardised symbols. It is useful in
human genetics (since experimental crosses are not possible in humans) to trace the pattern of
inheritance (dominant/recessive, autosomal/sex-linked) of a trait or genetic disorder.
11. Differentiate between aneuploidy and polyploidy.
Ans. Aneuploidy is the gain or loss of one or a few individual chromosomes from the normal diploid
chromosome number (e.g., trisomy-21 in Down's syndrome), usually arising from non-disjunction
during meiosis. Polyploidy is an increase in the entire chromosome set(s) of an organism (e.g.,
triploid, tetraploid), often seen in plants, arising from errors during cell division affecting all
chromosomes.
12. What causes Down's syndrome? Mention two features.
Ans. Down's syndrome is caused by the presence of an extra copy of chromosome 21 (trisomy 21),
usually due to non-disjunction during gamete formation. Affected individuals typically show short
stature, a flat facial profile and broad short hands, along with mild to moderate mental retardation.
13. What is sickle cell anaemia? Mention its genetic basis.
Ans. Sickle cell anaemia is an autosomal recessive genetic disorder in which red blood cells become
sickle (crescent) shaped under low oxygen tension. It is caused by a point mutation in the gene for the
beta-globin chain of haemoglobin, in which glutamic acid is substituted by valine at the sixth position.
14. What is phenylketonuria? Explain briefly.
Ans. Phenylketonuria is an autosomal recessive metabolic disorder in which the affected individual
lacks the enzyme required to convert phenylalanine into tyrosine, leading to accumulation of
phenylalanine and its harmful derivatives, which get excreted in urine and can cause mental
retardation if untreated.
15. What is meant by Mendelian disorders? Give two examples.
Ans. Mendelian disorders are genetic disorders caused by a mutation/alteration in a single gene,
which are inherited in patterns similar to those studied by Mendel (dominant, recessive, autosomal, or
sex-linked). Examples include haemophilia and sickle cell anaemia.
SECTION D | THREE MARK QUESTIONS — 10 Qs
1. Explain Mendel's monohybrid cross with the help of an example (tall x dwarf pea plants).
Ans. Mendel crossed a pure-breeding tall pea plant (TT) with a pure-breeding dwarf pea plant (tt). All
F1 offspring were tall (Tt), showing that tallness is dominant over dwarfness. On self-pollinating the F1
plants, the F2 generation showed both tall and dwarf plants in a phenotypic ratio of 3:1 (tall:dwarf),
while the genotypic ratio was 1:2:1 (TT:Tt:tt), demonstrating that the recessive trait (dwarfness),
though hidden in F1, reappears in F2 without any blending, supporting the Law of Segregation.
2. Explain Mendel's dihybrid cross with the help of an example (seed shape and seed colour in
pea).
Ans. Mendel crossed a pea plant with round, yellow seeds (RRYY) with one having wrinkled, green
seeds (rryy). The F1 plants were all round, yellow (RrYy), showing round and yellow are dominant
traits. On self-pollination of F1, the F2 generation showed four phenotypes — round yellow, round
green, wrinkled yellow, and wrinkled green — in the ratio 9:3:3:1, including new combinations (round
green, wrinkled yellow) not present in the parents, showing that the two gene pairs assort
independently of each other during gamete formation (Law of Independent Assortment).
3. Explain incomplete dominance with a suitable example and Punnett square outcome.
Ans. Incomplete dominance is seen when neither allele of a gene pair is completely dominant over
the other, so the heterozygote shows a blended, intermediate phenotype. In Mirabilis jalapa (four
o'clock plant), a cross between red-flowered (RR) and white-flowered (rr) plants produces
pink-flowered F1 plants (Rr), since neither red nor white pigment allele is fully dominant. On
self-pollinating the F1 (Rr x Rr), the F2 generation shows red, pink, and white flowered plants in a
ratio of 1:2:1, matching both the genotypic and phenotypic ratios exactly — unlike a normal
monohybrid cross.
4. Explain co-dominance with reference to the ABO blood group system in humans.
Ans. The ABO blood group in humans is controlled by a single gene (I) with three alleles: IA, IB, and i,
where IA and IB are co-dominant to each other and both are dominant over i. Individuals with
genotype IAIA or IAi have blood group A; IBIB or IBi have group B; ii have group O; and IAIB
individuals have group AB, in which both A and B antigens are expressed simultaneously on the RBC
surface — illustrating co-dominance, alongside multiple allelism since three alleles of the same gene
exist in the population.
5. Explain sex determination in humans.
Ans. Humans have 23 pairs of chromosomes (22 pairs of autosomes + 1 pair of sex chromosomes).
Females have two X chromosomes (XX; homogametic), while males have one X and one Y
chromosome (XY; heterogametic). During gamete formation, all eggs produced by the female carry a
single X chromosome, whereas sperm produced by the male are of two types, carrying either an X or
a Y chromosome, in equal proportion. The sex of the offspring is thus determined by which type of
sperm fertilises the egg: fusion with an X-bearing sperm produces a female (XX) child, while fusion
with a Y-bearing sperm produces a male (XY) child; hence the father's sperm determines the sex of
the child.
6. Explain the process of crossing over and its significance.
Ans. Crossing over is the exchange of segments of genetic material (chromatid pieces) between
non-sister chromatids of homologous chromosomes, occurring during pachytene of prophase-I of
meiosis, mediated by an enzyme complex called recombinase. It results in new (recombinant)
combinations of alleles on chromosomes that were not present in the parental chromosomes.
Significance: crossing over is a major source of genetic variation in sexually reproducing organisms,
and the frequency of crossing over between two genes is used to construct genetic/linkage maps
showing relative gene positions on a chromosome.
7. Describe Klinefelter's syndrome — its cause and features.
Ans. Klinefelter's syndrome is a genetic disorder in humans caused by the presence of an additional
X chromosome, giving a karyotype of 44+XXY (47 chromosomes total), resulting from non-disjunction
of the X chromosomes during gamete formation. Affected individuals are phenotypically male but
show feminised body features such as gynaecomastia (development of breasts). They are usually
sterile (due to underdeveloped testes) and may show mild mental retardation.
8. Describe Turner's syndrome — its cause and features.
Ans. Turner's syndrome results from the absence (monosomy) of one X chromosome in females,
giving a karyotype of 44+XO (45 chromosomes total), arising from non-disjunction during gamete
formation. Affected individuals are phenotypically female but are sterile, having
undeveloped/rudimentary ovaries, and typically show a short stature with a webbed neck. Secondary
sexual characters are usually poorly developed or absent.
9. Explain the inheritance pattern of haemophilia in humans with the help of a cross.
Ans. Haemophilia is an X-linked recessive disorder in which blood fails to clot normally due to the
absence of a clotting factor. Since the gene is located on the X chromosome, its inheritance shows a
criss-cross pattern. A carrier mother (XHXh, phenotypically normal) and a normal father (XHY), on
crossing, can produce: normal daughters (XHXH), carrier daughters (XHXh), normal sons (XHY), and
haemophilic sons (XhY), each in equal proportion. This explains why haemophilia is much more
common in males (who need only one recessive allele to be affected, as they have only one X) than in
females (who need two recessive alleles, one from each parent, to be affected).
10. What is a point mutation? Explain with the example of sickle cell anaemia.
Ans. A point mutation is a change involving a single base pair in the DNA sequence of a gene
(substitution, insertion, or deletion of one nucleotide). In sickle cell anaemia, a point mutation
(substitution) in the sixth codon of the beta-globin gene causes the amino acid glutamic acid to be
replaced by valine in the beta-globin chain of haemoglobin. This altered haemoglobin (HbS) causes
red blood cells to become sickle (crescent) shaped, especially under low oxygen tension, leading to
their rapid destruction and various clinical complications; the disorder is inherited in an autosomal
recessive manner, so only individuals homozygous for the mutant allele are severely affected.
SECTION E | FIVE MARK QUESTIONS — 10 Qs (Simple, Point-wise
Answers)
1. Explain Mendel's monohybrid cross and state the law it supports.
● Mendel crossed pure tall (TT) pea plants with pure dwarf (tt) pea plants.
● All F1 offspring were tall (Tt) — showing tallness is the dominant trait.
● F1 plants were self-pollinated to get the F2 generation.
● F2 phenotypic ratio: 3 tall : 1 dwarf.
● F2 genotypic ratio: 1 TT : 2 Tt : 1 tt.
● Dwarfness (hidden in F1) reappeared in F2 without blending — this supports the Law of
Segregation (alleles separate cleanly during gamete formation).
2. Explain Mendel's dihybrid cross and state the law it supports.
● Mendel crossed round-yellow seeded (RRYY) pea plants with wrinkled-green seeded (rryy) plants.
● All F1 plants were round, yellow (RrYy) — round and yellow are dominant.
● F1 was self-pollinated to produce F2.
● F2 showed 4 phenotypes: round-yellow, round-green, wrinkled-yellow, wrinkled-green in ratio
9:3:3:1.
● New combinations (round-green, wrinkled-yellow) appeared that were not in the parents.
● This shows the two gene pairs assort independently — supports the Law of Independent
Assortment.
3. Explain incomplete dominance and co-dominance with examples.
● Incomplete dominance: neither allele is fully dominant; heterozygote shows a blended/intermediate
phenotype.
● Example: Mirabilis jalapa — red (RR) x white (rr) gives pink (Rr) F1.
● F2 (Rr x Rr) ratio: 1 red : 2 pink : 1 white (genotypic = phenotypic ratio).
● Co-dominance: both alleles are fully expressed together, with no blending.
● Example: ABO blood group — IAIB individuals express both A and B antigens (blood group AB).
● Key difference: incomplete dominance gives a 'mixed' new phenotype; co-dominance shows both
original phenotypes together.
4. Explain sex determination in humans with a suitable diagram/cross description.
● Humans have 22 pairs of autosomes + 1 pair of sex chromosomes (23 pairs total).
● Females: XX (homogametic) — produce only X-bearing eggs.
● Males: XY (heterogametic) — produce two types of sperm: 50% X-bearing, 50% Y-bearing.
● If egg (X) fuses with X-bearing sperm → XX zygote → female child.
● If egg (X) fuses with Y-bearing sperm → XY zygote → male child.
● Since sperm type decides the outcome, the father's gamete determines the sex of the child; overall
ratio of male:female offspring tends to be 1:1.
5. Describe the chromosomal theory of inheritance and the contribution of Morgan's
experiments.
● Proposed by Sutton and Boveri: genes are located on chromosomes.
● Chromosomes occur in pairs, and so do genes (alleles) — matching Mendelian factors.
● The two alleles of a gene pair segregate during meiosis just as homologous chromosomes
segregate.
● Different gene pairs on different chromosome pairs assort independently — matching Mendel's
laws.
● T.H. Morgan used Drosophila melanogaster to study linked genes and found that genes on the
same chromosome do not assort independently.
● His work established the concepts of linkage and crossing over, providing strong experimental
support for the chromosomal theory.
6. Explain linkage and crossing over with their significance.
● Linkage: genes located close together on the same chromosome tend to be inherited together.
● Linked genes do not show independent assortment; they mostly produce parental-type
combinations in offspring.
● Complete linkage: genes so close together that virtually no recombination occurs between them
(rare).
● Incomplete linkage: genes farther apart show some crossing over, producing a small percentage of
recombinant offspring.
● Crossing over: exchange of chromatid segments between homologous chromosomes during
prophase-I of meiosis.
● Significance: crossing over creates new gene combinations (genetic variation) and helps in
constructing linkage maps of chromosomes.
7. Explain the various types of chromosomal disorders with examples (aneuploidy and
polyploidy).
● Chromosomal disorders arise from changes in chromosome number or structure, mainly due to
errors during cell division (non-disjunction).
● Aneuploidy: gain or loss of one or a few chromosomes from the normal set.
● Trisomy (2n+1): an extra chromosome, e.g., Down's syndrome (trisomy of chromosome 21).
● Monosomy (2n-1): loss of one chromosome, e.g., Turner's syndrome (44+XO).
● Polyploidy: increase in the complete chromosome set (more common in plants), e.g., triploid,
tetraploid organisms.
● Such disorders can be detected by karyotyping and are often associated with developmental and
physical abnormalities.
8. Describe Down's syndrome, Klinefelter's syndrome, and Turner's syndrome — causes and
features.
● Down's syndrome: caused by trisomy of chromosome 21 (extra copy, 47 chromosomes total).
● Features of Down's syndrome: short stature, flat facial profile, broad short hands, mild to moderate
mental retardation.
● Klinefelter's syndrome: caused by an extra X chromosome in males (44+XXY).
● Features of Klinefelter's syndrome: male body with feminised features (gynaecomastia), usually
sterile.
● Turner's syndrome: caused by absence of one X chromosome in females (44+XO, monosomy).
● Features of Turner's syndrome: female body, sterile with undeveloped ovaries, short stature,
webbed neck.
9. Explain Mendelian disorders with examples of autosomal and sex-linked inheritance.
● Mendelian disorders are caused by mutation/alteration of a single gene and follow Mendelian
inheritance patterns.
● Can be autosomal (gene on autosome) or sex-linked (gene on X or Y chromosome).
● Can be dominant or recessive in expression.
● Autosomal recessive example: Sickle cell anaemia — caused by a point mutation in the beta-globin
gene (glutamic acid replaced by valine).
● Autosomal recessive example: Phenylketonuria — enzyme deficiency causing phenylalanine
build-up.
● X-linked recessive example: Haemophilia — blood clotting factor deficiency, more common in
males.
● X-linked recessive example: Colour blindness — inability to distinguish certain colours, more
common in males.
10. Explain the inheritance of haemophilia in humans (X-linked recessive disorder) with a cross.
● Haemophilia gene is located on the X chromosome and is recessive (Xh).
● Normal allele is XH (dominant).
● Cross: carrier mother (XHXh) x normal father (XHY).
● Possible daughters: XHXH (normal) and XHXh (carrier, phenotypically normal).
● Possible sons: XHY (normal) and XhY (haemophilic).
● Each type of offspring occurs in equal (1:1:1:1) proportion among daughters and sons.
● Since males have only one X chromosome, a single recessive allele (Xh) is enough to cause the
disease in sons; females need two recessive alleles, so haemophilia is far more common in males.
Prepared for CBSE Class 12 Biology exam preparation — Chapter: Principles of Inheritance and Variation.