Principles of Inheritance and Variation Class 12: Concepts, Crosses and Board Answers
Updated 14 October 2026 · Fact-checked
Principles of Inheritance and Variation is Chapter 4 of CBSE Class 12 Biology and part of Unit VII, Genetics and Evolution (20 marks). It covers Mendel's laws, deviations such as incomplete dominance, co-dominance, multiple alleles and pleiotropy, the chromosomal theory, linkage, sex determination, sex-linked inheritance and human genetic disorders.
What Principles of Inheritance and Variation is about
Genetics studies inheritance (how characters pass from parents to offspring) and variation (how far offspring differ from parents).
The chapter builds in layers:
1. Mendel's experiments on garden pea (1856–1863): monohybrid and dihybrid crosses, Punnett squares, the test cross, and three laws: dominance, segregation and independent assortment.
2. Deviations from Mendel: incomplete dominance (pink snapdragons), co-dominance and multiple alleles (ABO blood groups), pleiotropy (one gene, many effects: phenylketonuria) and an elementary idea of polygenic inheritance (skin colour, height).
3. Chromosomal theory of inheritance (Sutton and Boveri): genes behave like chromosomes in meiosis. Morgan's Drosophila work showed linkage and recombination; Sturtevant used recombination frequency to map genes.
4. Sex determination: XO (grasshopper), XY (humans, Drosophila), ZW (birds) and haplodiploidy (honey bee).
5. Mutation and genetic disorders: pedigree analysis; Mendelian disorders (colour blindness and haemophilia: X-linked recessive; sickle-cell anaemia, phenylketonuria and thalassaemia: autosomal recessive); chromosomal disorders (Down's, Klinefelter's, Turner's syndromes).
This is a high-scoring chapter because many questions are crosses and probabilities. Write every cross the same way: parents' genotypes → gametes → Punnett square → genotypic and phenotypic ratios.
Weightage: This chapter is part of Unit VII, Genetics and Evolution, which carries 20 of the 70 theory marks together with Molecular Basis of Inheritance and Evolution.Source: CBSE Biology (044) syllabus 2026-27, course structure, Unit VII Genetics and Evolution
In real board papers: asked in 8 of the 8 board papers we hold (2023 to 2026), on average 9.1 marks per paper. See the questions
Key concepts
- Mendel's experiments and the monohybrid cross
- NCERT section 4.1 Mendel's Laws of Inheritance; 4.2 Inheritance of One Gene
Why Mendel succeeded: he used garden pea, which has clear contrasting traits, is easy to cross-pollinate artificially and also self-pollinates; he used true-breeding lines (lines that, after continuous selfing, show the same trait for many generations); he studied large samples; and he applied statistics and mathematical logic to biology for the first time. He chose 14 true-breeding varieties forming 7 pairs of contrasting traits.
The 7 pairs: stem height (tall/dwarf), flower colour (violet/white), flower position (axial/terminal), pod shape (inflated/constricted), pod colour (green/yellow), seed shape (round/wrinkled), seed colour (yellow/green). The first trait in each pair is dominant.
Monohybrid cross (tall × dwarf):
P: TT (tall) × tt (dwarf) → gametes T and t
F₁: all Tt (tall); no dwarf, no in-between height
F₁ selfed: Tt × Tt → gametes ½T + ½t from each parent
F₂ (Punnett square): 1 TT : 2 Tt : 1 tt- Phenotypic ratio 3 tall : 1 dwarf
- Genotypic ratio 1 : 2 : 1
The dwarf trait reappears unchanged in F₂, so traits do not blend. Binomial check: (½T + ½t)² = ¼TT + ½Tt + ¼tt.
Key terms: gene (Mendel's 'factor', the unit of inheritance); alleles (slightly different forms of the same gene, such as T and t); homozygous (TT or tt) and heterozygous (Tt); genotype (genetic make-up, TT) versus phenotype (observable trait, tall); monohybrid (heterozygous for one gene). Use the capital and small form of one letter (T/t), never T and d.
Punnett square: a grid devised by the British geneticist Reginald C. Punnett: gametes of one parent along the top, of the other down the side; boxes give all zygotes and their probabilities.
Test cross: to find whether a dominant-looking organism is homozygous or heterozygous, cross it with the recessive homozygous parent.
- All offspring dominant → test organism is homozygous (VV × vv → all Vv).
- 1 dominant : 1 recessive → it is heterozygous (Vv × vv → ½Vv : ½vv).
Worked example
A violet-flowered pea plant of unknown genotype is crossed with a white-flowered plant. Of 80 offspring, 41 are violet and 39 white. What is the genotype of the violet parent? What would you expect if it were homozygous? (2 marks)
Try it first, then show the solutionSolution
- This is a test cross (crossing with the recessive vv). 41 : 39 is close to 1 : 1, so the violet parent produces two kinds of gametes, V and v: it is heterozygous, Vv. (1)
- Check with a Punnett square: Vv × vv → ½ Vv (violet) + ½ vv (white), expected 40 : 40. If it were VV, all gametes would be V and all 80 offspring would be violet (Vv). (1)
Answer: Vv (heterozygous); a VV parent would give all violet offspring.
- Laws of dominance and segregation
- NCERT section 4.2.1 Law of Dominance; 4.2.2 Law of Segregation
Law of Dominance (first law):
1. Characters are controlled by discrete units called factors.
2. Factors occur in pairs.
3. In a dissimilar pair, one factor dominates (dominant) and the other is masked (recessive).
It explains why only one parental trait appears in F₁, why both appear in F₂, and the 3 : 1 ratio.Law of Segregation (second law): the two alleles of a pair, present together in the parent, separate during gamete formation, so each gamete gets only one allele. Alleles do not blend, which is why the recessive trait is recovered unchanged in F₂. A homozygote makes one kind of gamete; a heterozygote makes two kinds in equal proportion (50% each). Segregation is random.
What dominance really means: a gene carries information to make a product, often an enzyme. A changed (modified) allele may make
- a normal or less efficient enzyme (no change in phenotype; the alleles are equivalent),
- a non-functional enzyme, or
- no enzyme at all.
In the last two cases the phenotype depends only on the working allele. The unmodified, functioning allele is usually the dominant one, and the modified allele is usually recessive: the recessive trait shows only when no working enzyme is made.
Dominance depends on the phenotype you look at: in pea, one gene (B/b) controls starch synthesis. BB makes large starch grains and round seeds; bb makes small grains and wrinkled seeds. Bb seeds are round (B looks dominant) but their starch grains are of intermediate size (incomplete dominance for grain size). So dominance is not a fixed property of a gene.
Worked example
Mendel self-pollinated tall F₂ plants from a Tt × Tt cross. What fraction of these tall plants would give only tall offspring in F₃, and what fraction would give both tall and dwarf? Explain. (2 marks)
Try it first, then show the solutionSolution
- Tall F₂ plants are TT and Tt in the ratio 1 : 2 (from 1 TT : 2 Tt : 1 tt), so 1/3 are TT and 2/3 are Tt. (1)
- TT plants breed true (all tall); Tt plants segregate (3 tall : 1 dwarf). So 1/3 give only tall and 2/3 give tall and dwarf. Check by counting: of 3 tall plants, 1 TT + 2 Tt. (1)
Answer: 1/3 breed true for tall (TT); 2/3 give tall and dwarf (Tt).
- Incomplete dominance, co-dominance and multiple alleles
- NCERT section 4.2.2.1 Incomplete Dominance; 4.2.2.2 Co-dominance
Incomplete dominance: the F₁ looks in between the parents. In snapdragon (dog flower, Antirrhinum):
P: RR (red) × rr (white) → F₁: Rr (pink)
F₂ (Rr × Rr): 1 RR red : 2 Rr pink : 1 rr white
Here the phenotypic ratio equals the genotypic ratio, 1 : 2 : 1, because R is not completely dominant over r, so Rr can be told apart.Co-dominance: the F₁ shows both parental traits fully. Example: ABO blood groups in humans.
- Gene I controls the kind of sugar polymer that sticks out from the red blood cell membrane.
- It has three alleles: Iᴬ and Iᴮ (each makes a slightly different sugar) and i (makes no sugar).
- Iᴬ and Iᴮ are each completely dominant over i; but Iᴬ and Iᴮ together are co-dominant: both sugars are present, giving blood group AB.
Genotype Blood group IᴬIᴬ, Iᴬi A IᴮIᴮ, Iᴮi B IᴬIᴮ AB ii O Three alleles give 6 genotypes and 4 phenotypes.
Multiple alleles: more than two alleles of a gene controlling the same character, as in the ABO system. An individual carries only two, so multiple alleles are found only by population studies.
Quick comparison:
- Dominance: F₁ like one parent; F₂ 3 : 1.
- Incomplete dominance: F₁ intermediate; F₂ 1 : 2 : 1.
- Co-dominance: F₁ shows both traits together; F₂ 1 : 2 : 1 (for example IᴬIᴮ × IᴬIᴮ gives 1 A : 2 AB : 1 B).
Worked example
A child has blood group O. The father has group A and the mother group B. Work out the parents' genotypes and the possible blood groups of their other children with probabilities. (3 marks)
Try it first, then show the solutionSolution
- A group O child is ii, so it got i from each parent. Father (A) must be Iᴬi; mother (B) must be Iᴮi. (1)
- Cross Iᴬi × Iᴮi: gametes Iᴬ, i and Iᴮ, i. Punnett square: IᴬIᴮ, Iᴬi, Iᴮi, ii. (1)
- Each has probability 1/4: AB 1/4, A 1/4, B 1/4, O 1/4. Check: four genotypes, all different, sum 1. (1)
Answer: Father Iᴬi, mother Iᴮi; children AB, A, B or O, each with probability 1/4.
- Pleiotropy and polygenic inheritance
- NCERT section 4.4 Polygenic Inheritance; 4.5 Pleiotropy
Pleiotropy: one gene affects several phenotypic traits. The gene usually acts on a metabolic pathway that feeds into different phenotypes.
- Example: phenylketonuria (PKU). A mutation in the single gene for the enzyme phenylalanine hydroxylase causes mental retardation and reduced hair and skin pigmentation.
- Another example from the same chapter: the pea starch gene (B/b) affects both seed shape and starch grain size.
Polygenic inheritance (elementary idea): many traits do not fall into two clear forms but vary continuously along a gradient, such as human height and skin colour. Such traits are usually controlled by three or more genes and are also influenced by the environment. The effect of each allele is additive: each dominant allele adds a little more of the trait.
- Model: three genes A, B, C; dominant alleles add dark pigment.
- AABBCC = darkest; aabbcc = lightest; three dominant + three recessive alleles (for example AaBbCc) = intermediate.
- So the number of dominant alleles, not which gene they are on, sets the shade.
Pleiotropy versus polygenic inheritance:
- Pleiotropy: one gene → many traits.
- Polygenic: many genes → one trait.
Worked example
In the three-gene model of skin colour, two parents are both AaBbCc. What fraction of their children are expected to have the lightest skin (aabbcc)? (2 marks)
Try it first, then show the solutionSolution
- Method 1: each gene is independent. For one gene, Aa × Aa gives aa with probability 1/4. For all three: 1/4 × 1/4 × 1/4 = 1/64. (1)
- Method 2: each parent makes 2 × 2 × 2 = 8 kinds of gametes in equal numbers, so the grid has 64 boxes; abc egg + abc sperm is exactly 1 box: 1/64. (1)
Answer: 1/64 of the children.
- Dihybrid cross and the law of independent assortment
- NCERT section 4.3 Inheritance of Two Genes; 4.3.1 Law of Independent Assortment
Dihybrid cross: parents differ in two characters. Mendel crossed round yellow (RRYY) with wrinkled green (rryy) peas.
P: RRYY × rryy → gametes RY and ry
F₁: RrYy (all round, yellow), so round and yellow are dominant.
F₁ gametes: R/r separates independently of Y/y, giving 4 kinds in equal numbers: RY, Ry, rY, ry (¼ each).
F₂ (4 × 4 = 16 boxes):- 9 round yellow : 3 round green : 3 wrinkled yellow : 1 wrinkled green (phenotypic ratio 9 : 3 : 3 : 1).
- 9 genotypes; genotypic ratio 1 : 2 : 1 : 2 : 4 : 2 : 1 : 2 : 1 (RRYY 1, RRYy 2, RRyy 1, RrYY 2, RrYy 4, Rryy 2, rrYY 1, rrYy 2, rryy 1).
Shortcut: each character alone still segregates 3 : 1, and (3 round : 1 wrinkled) × (3 yellow : 1 green) = 9 : 3 : 3 : 1.
Law of Independent Assortment: when two pairs of traits are combined in a hybrid, the segregation of one pair is independent of the other.
Useful counting rules:
- Number of gamete types from n heterozygous loci = 2ⁿ.
- Probability of a combined outcome = product of the separate probabilities (for independent genes).
Dihybrid test cross: RrYy × rryy → RrYy : Rryy : rrYy : rryy = 1 : 1 : 1 : 1. If the genes were linked, parental types would far outnumber these.
Worked example
A tall plant with yellow seeds (TtYy) is crossed with a tall plant with green seeds (Ttyy). What proportion of offspring will be (a) tall and green, (b) dwarf and green? (2 marks)
Try it first, then show the solutionSolution
- Method 1 (product rule): Tt × Tt gives tall 3/4, dwarf 1/4. Yy × yy gives yellow 1/2, green 1/2. (a) Tall green = 3/4 × 1/2 = 3/8. (b) Dwarf green = 1/4 × 1/2 = 1/8. (1)
- Method 2 (grid): TtYy gametes TY, Ty, tY, ty; Ttyy gametes Ty, ty. In the 8 boxes, tall green (T_yy) = TTyy, Ttyy, Ttyy = 3 boxes = 3/8; dwarf green (ttyy) = 1 box = 1/8. Both methods agree. (1)
Answer: (a) 3/8 (b) 1/8
- Chromosomal theory, linkage and recombination
- NCERT section 4.3.2 Chromosomal Theory of Inheritance; 4.3.3 Linkage and Recombination
Why Mendel's work was ignored (published 1865, unnoticed till 1900): poor communication of the time; his idea of stable, discrete, non-blending factors did not fit the apparently continuous variation people saw; using mathematics in biology was new and unacceptable to many; and he could give no physical proof of factors.
Rediscovery (1900): de Vries, Correns and von Tschermak independently. By then, better microscopes showed chromosomes dividing, and by 1902 their movement in meiosis was known.
Chromosomal theory of inheritance (Sutton and Boveri): genes behave exactly like chromosomes:
- both occur in pairs (the two alleles sit at the same site on homologous chromosomes);
- both segregate at gamete formation, one of each pair going to a gamete;
- independent pairs segregate independently (chromosome pairs line up independently at metaphase I).
Sutton combined chromosomal segregation with Mendel's principles and called it the chromosomal theory of inheritance.
Morgan's experimental proof (Drosophila melanogaster). The fruit fly suits genetics: grows on a simple synthetic medium, life cycle about two weeks, one mating gives many progeny, sexes easy to tell apart, many hereditary variations visible under low-power microscopes.
Linkage: Morgan's dihybrid crosses with X-linked genes (for example yellow body/white eye) gave F₂ ratios far from 9 : 3 : 3 : 1. Genes on the same chromosome tend to be inherited together, so parental combinations far outnumber non-parental ones.
- Linkage: physical association of genes on a chromosome.
- Recombination: generation of non-parental gene combinations (by crossing over in meiosis).
- Tightly linked genes show little recombination: white and yellow, 1.3%. Loosely linked genes show more: white and miniature wing, 37.2%.
Gene mapping: Morgan's student Alfred Sturtevant used recombination frequency between gene pairs as a measure of the distance between them and mapped their positions. Genetic maps were a starting point for whole-genome sequencing, as in the Human Genome Project.
Recombination frequency (RF) = (number of recombinant offspring ÷ total offspring) × 100.
Worked example
A dihybrid AaBb (A and B on the same chromosome, received together from one parent) is test-crossed with aabb. Offspring: AaBb 412, aabb 388, Aabb 104, aaBb 96. Identify parental and recombinant types and calculate the recombination frequency. (3 marks)
Try it first, then show the solutionSolution
- Parental types (most frequent): AaBb 412 and aabb 388 = 800. Recombinants (non-parental, least frequent): Aabb 104 and aaBb 96 = 200. (1)
- Total = 800 + 200 = 1000. RF = 200 ÷ 1000 × 100 = 20%. (1)
- Check: parental fraction 800/1000 = 80%; 80% + 20% = 100%. The genes are linked (an unlinked test cross would give 1 : 1 : 1 : 1, about 250 each). (1)
Answer: Parental: AaBb, aabb; recombinant: Aabb, aaBb; RF = 20% (linked genes).
- Sex determination
- NCERT section 4.6 Sex Determination (4.6.1 Humans; 4.6.2 Honey Bee)
History: Henking (1891) saw a nuclear structure passing to only 50% of sperms during spermatogenesis in some insects and called it the X body; it was later shown to be a chromosome, the X chromosome. Chromosomes that decide sex are sex chromosomes; the rest are autosomes.
Four mechanisms:
1. XO type (many insects, e.g. grasshopper): females XX, males XO (only one X). Males have one chromosome fewer than females. Eggs all carry X; sperms carry X or no X.
2. XY type (humans, Drosophila): females XX, males XY (Y is distinctly smaller). Both sexes have the same number of chromosomes.
3. ZW type (birds): females ZW, males ZZ.
4. Haplodiploidy (honey bee): based on the number of chromosome sets.Male versus female heterogamety: in XO and XY, the male makes two kinds of gametes (male heterogamety). In birds the female makes two kinds (Z or W eggs): female heterogamety, so the egg decides the chick's sex.
Humans: 23 pairs = 22 pairs of autosomes + one pair of sex chromosomes (XX female, XY male). Sperms: 50% X, 50% Y; ova: all X. X-sperm → XX girl; Y-sperm → XY boy. So the sperm's genetic make-up decides the child's sex, and each pregnancy has a 50% chance of either. Blaming women for daughters is scientifically wrong.
Honey bee (haplodiploid):
- Fertilised egg (sperm + egg) → female (queen or worker), diploid, 32 chromosomes.
- Unfertilised egg → male (drone) by parthenogenesis, haploid, 16 chromosomes.
- Drones make sperms by mitosis; a drone has no father and so cannot have sons, but has a grandfather and can have grandsons.
Worked example
In an insect species, some individuals have 13 chromosomes and others 14. (a) Identify the sex of each and the mechanism. (b) How many kinds of sperm does the male make? (2 marks)
Try it first, then show the solutionSolution
- (a) A one-chromosome difference between sexes means XO type: males are XO (13: 12 autosomes + X) and females XX (14: 12 autosomes + XX), as in grasshopper. (1)
- (b) Two kinds: half the sperms carry 6 autosomes + X (7) and half carry 6 autosomes and no X (6). (1)
Answer: (a) 13 = male (XO), 14 = female (XX), XO type (b) two kinds: with X (7 chromosomes) and without X (6).
- Mutation, pedigree analysis and Mendelian disorders
- NCERT section 4.7 Mutation; 4.8.1 Pedigree Analysis; 4.8.2 Mendelian Disorders
Mutation: a change in the DNA sequence that changes the genotype and possibly the phenotype. With recombination, it is a source of variation.
- Chromosomal aberrations: loss (deletion) or gain (insertion/duplication) of a DNA segment alters chromosomes; commonly seen in cancer cells.
- Point mutation: change in a single base pair, e.g. sickle-cell anaemia.
- Deletion or insertion of base pairs causes frame-shift mutations.
- Mutagens: chemical and physical agents that cause mutation, e.g. UV radiation.
Pedigree analysis: controlled crosses are impossible in humans, so a family tree across generations is used to trace a trait. Standard symbols: square = male, circle = female, shaded = affected, half-shaded or dot = carrier, horizontal line = mating, double line = consanguineous mating, vertical line to offspring.
Reading a pedigree:
- Autosomal dominant (e.g. myotonic dystrophy): every affected child has an affected parent; seen in every generation; both sexes equally.
- Autosomal recessive (e.g. sickle-cell anaemia): unaffected parents can have an affected child (both carriers); can skip generations.
- X-linked recessive (haemophilia, colour blindness): mostly males affected; passed from carrier mothers to sons; never father to son.
Mendelian disorders (single-gene):
- Colour blindness (X-linked recessive): defect in red or green cones, so red and green cannot be distinguished. About 8% of males but only 0.4% of females, because males have one X. A carrier mother's son has a 50% chance; a daughter is colour blind only if her mother is a carrier (or affected) and her father is colour blind.
- Haemophilia (X-linked recessive): one protein of the blood-clotting cascade is affected, so a small cut bleeds non-stop. Carrier females pass it to some sons. Affected females are extremely rare (the mother must be at least a carrier and the father haemophilic). Queen Victoria was a carrier with many haemophilic descendants.
- Sickle-cell anaemia (autosomal recessive): alleles Hbᴬ and Hbˢ; only HbˢHbˢ is diseased; HbᴬHbˢ carriers seem healthy (sickle-cell trait). Cause: glutamic acid replaced by valine at the 6th position of the β-globin chain, from a single base change GAG → GUG in the 6th codon. The mutant haemoglobin polymerises at low oxygen, turning the RBC from a biconcave disc into a sickle shape.
- Phenylketonuria (autosomal recessive): no enzyme to convert phenylalanine to tyrosine; phenylalanine builds up and becomes phenylpyruvic acid, which damages the brain (mental retardation) and is excreted in urine.
- Thalassaemia (autosomal recessive): mutation or deletion lowers the rate of synthesis of α or β globin chains, giving abnormal haemoglobin and anaemia.
- α-thalassaemia: two closely linked genes HBA1 and HBA2 on chromosome 16 of each parent (four genes); the more genes affected, the less α globin.
- β-thalassaemia: single gene HBB on chromosome 11 of each parent; one or both mutated.
- Thalassaemia is a quantitative problem (too few globin molecules); sickle-cell anaemia is a qualitative problem (wrongly working globin).
Worked example
A woman whose father was haemophilic marries a normal man. What is the probability that (a) their son will be haemophilic, (b) any child will be a haemophilic son, (c) a daughter will be haemophilic? (3 marks)
Try it first, then show the solutionSolution
- The woman received her father's Xʰ, and her own phenotype is normal, so she is a carrier XᴴXʰ. The man is XᴴY. (1)
- Cross XᴴXʰ × XᴴY → XᴴXᴴ, XᴴXʰ, XᴴY, XʰY (each 1/4). (a) Of sons (XᴴY, XʰY), half are haemophilic: 1/2. (b) Of all children, XʰY is 1 of 4: 1/4. (1)
- (c) Daughters get the father's Xᴴ, so none are haemophilic: 0 (half are carriers). Check by Method 2: son's X comes only from the mother, chance Xʰ = 1/2; chance of a son = 1/2; 1/2 × 1/2 = 1/4 for (b). (1)
Answer: (a) 1/2 (b) 1/4 (c) 0 (half the daughters are carriers).
- Chromosomal disorders
- NCERT section 4.8.3 Chromosomal Disorders
Chromosomal disorders are caused by the absence, excess or abnormal arrangement of one or more chromosomes.
How they arise:
- Aneuploidy: gain or loss of one or more chromosomes, due to failure of chromatids to segregate during cell division. Extra copy of one chromosome = trisomy (2n + 1); missing one = monosomy (2n − 1).
- Polyploidy: increase in a whole set of chromosomes, due to failure of cytokinesis after telophase; often seen in plants.
A normal human cell has 46 chromosomes (23 pairs): 22 pairs of autosomes + 1 pair of sex chromosomes.
Three syndromes:
1. Down's syndrome: trisomy 21 (47 chromosomes); first described by Langdon Down (1866). Short stature, small round head, furrowed tongue, partly open mouth, broad palm with a characteristic palm crease; retarded physical, psychomotor and mental development. (NCERT's figure also shows a broad flat face, many loops on fingertips and congenital heart disease.)
2. Klinefelter's syndrome: an extra X in a male, 47, XXY. Overall masculine development but with some feminine development, such as breast development (gynaecomastia); tall stature; sterile.
3. Turner's syndrome: absence of one X in a female, 45, XO. Sterile because the ovaries are rudimentary; short stature; lack of other secondary sexual characters.Karyotype: these disorders are identified by examining the chromosome set (karyotype).
Mendelian versus chromosomal disorders:
- Mendelian: alteration in a single gene; follows Mendel's patterns; traced by pedigree (e.g. haemophilia, thalassaemia).
- Chromosomal: change in chromosome number or arrangement; seen in the karyotype (e.g. Down's syndrome).
Worked example
Give the chromosome number and sex-chromosome make-up for Klinefelter's and Turner's syndromes, and explain how non-disjunction in a parent could produce each. (3 marks)
Try it first, then show the solutionSolution
- Klinefelter's: 47, XXY (male). Turner's: 45, XO (female). (1)
- If the sex chromosomes fail to separate in one parent's meiosis, gametes with two sex chromosomes (XX or XY) or with none (O) are formed. (1)
- XX egg + Y sperm, or X egg + XY sperm → XXY (Klinefelter's); an O gamete + X gamete → XO (Turner's). (1)
Answer: Klinefelter's 47, XXY; Turner's 45, XO; both arise when sex chromosomes fail to segregate, giving gametes with an extra or no sex chromosome.
Principles of Inheritance and Variation in real life
Each concept, met in an everyday situation. Read the situation, answer the question in your own words, then compare with the model answer. The one-line hook is what to remember.
Mutation, pedigree analysis and Mendelian disorders
Suppose two cousins, both healthy, plan to marry and learn that each of them is a carrier of β-thalassaemia.
What is the chance that their child will have thalassaemia, and what is the chance the child will be a carrier?
Try it first, then show the solutionSolution
- Thalassaemia is autosomal recessive; both parents are carriers: Tt × Tt (t = thalassaemia allele).
- Offspring: TT 1/4, Tt 1/2, tt 1/4.
- Check with gametes: each parent gives t with chance 1/2, so tt = 1/2 × 1/2 = 1/4; carrier Tt = (1/2 × 1/2) + (1/2 × 1/2) = 1/2.
Answer: Affected child 1/4 (25%); carrier child 1/2 (50%).
Memory hook: Two carriers: one in four affected, two in four carriers.
Incomplete dominance, co-dominance and multiple alleles
Imagine a hospital where two babies were mixed up. Baby X has blood group O and baby Y has group AB. Couple 1 are both group AB; couple 2 are A (Iᴬi) and B (Iᴮi).
Which baby belongs to which couple?
Try it first, then show the solutionSolution
- Couple 1 (IᴬIᴮ × IᴬIᴮ) can only have A, AB or B children; they cannot have an O (ii) child, because neither carries i.
- So baby X (O) must belong to couple 2, who can have ii children (1/4 chance).
- Baby Y (AB) belongs to couple 1 (1/2 of their children are AB).
Answer: Baby X (O) to couple 2; baby Y (AB) to couple 1.
Memory hook: No i in the parents, no O in the baby.
Sex determination
Suppose a poultry farmer wants to know which parent bird decides whether a chick will be a hen or a rooster.
Explain using sex chromosomes.
Try it first, then show the solutionSolution
- Birds have ZW sex determination: hens are ZW and roosters ZZ.
- Roosters make only Z sperms; hens make Z eggs and W eggs in equal numbers (female heterogamety).
- A Z egg + Z sperm → ZZ rooster; a W egg + Z sperm → ZW hen. The egg decides.
Answer: The hen (egg) decides the chick's sex, because she makes two kinds of eggs.
Memory hook: Birds flip it: the mother bird tosses the coin.
Dihybrid cross and the law of independent assortment
Imagine a guinea-pig breeder crosses two black-coated, brown-eyed guinea pigs that are both heterozygous for both genes (GgBb), where black (G) is dominant over white and brown eyes (B) over blue.
What fraction of the young will be white with blue eyes, and what fraction black with blue eyes?
Try it first, then show the solutionSolution
- Each gene alone: Gg × Gg gives white (gg) 1/4, black 3/4; Bb × Bb gives blue (bb) 1/4, brown 3/4.
- White blue = 1/4 × 1/4 = 1/16; black blue = 3/4 × 1/4 = 3/16.
- Check with the 9 : 3 : 3 : 1 ratio: the double recessive is the '1' (1/16) and black blue is one of the '3' classes (3/16).
Answer: White blue-eyed 1/16; black blue-eyed 3/16.
Memory hook: Split the genes, multiply the fractions.
Topics in this chapter
Principles of Inheritance and Variation: key facts
- Monohybrid F₂
- Binomial: (½T + ½t)² = ¼TT + ½Tt + ¼tt.
- Dihybrid F₂
- 16 combinations, 9 genotypes, 4 phenotypes.
- Test crosses
- All dominant offspring means the tested parent is homozygous.
- Incomplete dominance and co-dominance
- Genotypic and phenotypic ratios are the same (1 : 2 : 1).
- Gamete types and probabilities
- n = number of heterozygous loci (independent genes).
- Recombination frequency
- Higher RF means genes are farther apart (looser linkage).
- X-linked recessive cross
- Half the sons affected; half the daughters carriers; no affected daughters.
- Chromosome numbers in disorders
- Trisomy = 2n + 1; monosomy = 2n − 1.
Principles of Inheritance and Variation: diagrams to practise
Practise each one on paper: draw it from the checklist, then tick off every label.
Punnett square of a monohybrid cross
Show a monohybrid cross between true-breeding tall and dwarf plants up to F₂.
Draw
- P line: TT (tall) × tt (dwarf), with gametes T and t circled.
- F₁: Tt (tall); selfed: Tt × Tt.
- A 2 × 2 grid with T and t (eggs) on one side and T and t (pollen) on the other; fill TT, Tt, Tt, tt.
- Write both ratios under the grid.
Label
- Parents
- Gametes
- F₁ (Tt)
- Eggs
- Pollen
- F₂ genotypes
- Phenotypic ratio 3 : 1
- Genotypic ratio 1 : 2 : 1
Watch out: Use the same letter for both alleles and circle each gamete.
Dihybrid cross Punnett square
Work a dihybrid cross to F₂ with a checkerboard.
Draw
- P: RRYY × rryy; gametes RY and ry; F₁ RrYy.
- A 4 × 4 grid with RY, Ry, rY, ry along both sides.
- Fill all 16 boxes; shade or mark the four phenotype classes.
- Summarise: 9 : 3 : 3 : 1.
Label
- F₁ RrYy
- Four gamete types
- 16 combinations
- Round yellow 9
- Round green 3
- Wrinkled yellow 3
- Wrinkled green 1
Watch out: Keep the gene order the same in every box (R before Y) to avoid copying errors.
Pedigree symbols and patterns
Draw pedigree symbols, or a pedigree for an autosomal dominant, autosomal recessive or X-linked trait.
Draw
- Square for male, circle for female, diamond for sex unspecified.
- Shaded symbol for affected; dot or half-shading for carrier.
- Horizontal line between partners (double line for consanguineous mating); vertical line down to a horizontal sibship line.
- Roman numerals for generations and Arabic numbers for individuals.
Label
- Male
- Female
- Affected
- Carrier
- Mating
- Consanguineous mating
- Offspring
- Generation I, II, III
Watch out: For X-linked recessive examples, shade mostly males and mark their mothers as carriers.
Sex determination charts (XY, ZW, honey bee)
Show sex determination in humans, birds or honey bee with a chart.
Draw
- Humans: 44 + XX (female) × 44 + XY (male); gametes 22 + X (eggs) and 22 + X, 22 + Y (sperms); offspring 44 + XX and 44 + XY, 1 : 1.
- Birds: ZW female × ZZ male; eggs Z or W, sperms Z; offspring ZZ males and ZW females.
- Honey bee: queen (2n = 32) × drone (n = 16); fertilised egg → female (32); unfertilised egg → drone (16); drone's sperms by mitosis.
Label
- Autosomes
- Sex chromosomes
- Heterogametic sex
- Homogametic sex
- Gametes
- Zygotes
- Ratio 1 : 1
Watch out: Always label which sex is heterogametic: male in XY, female in ZW.
Independent assortment of chromosomes at metaphase I
Show how two pairs of homologous chromosomes can line up to give four kinds of gametes.
Draw
- Two homologous pairs (one long, one short), each with a dominant allele on one homologue and a recessive allele on the other.
- Possibility I: both dominant-bearing chromosomes on the same side of the plate; Possibility II: one dominant and one recessive on each side.
- Show the resulting gametes: RY and ry (I), Ry and rY (II).
Label
- Homologous chromosomes
- Metaphase plate
- Possibility I
- Possibility II
- Gametes RY, ry, Ry, rY
Watch out: Use two sizes of chromosomes so the examiner can see they are non-homologous pairs.
How the board asks Principles of Inheritance and Variation
The question patterns to expect, and the method that works for each.
| Question type | How it is asked | Method |
|---|---|---|
| Working out crosses | Work a monohybrid or dihybrid cross to F₂; design a test cross; find a parent's genotype from offspring ratios; crosses with incomplete dominance (snapdragon) or co-dominance (cattle coat, blood groups). | Write parents, gametes (circled), Punnett square, then phenotypic and genotypic ratios with names. Marks are lost for missing gametes. |
| Probability and ratios | Chance of an albino, thalassaemic or colour-blind child; proportion of a given phenotype from crosses like TtYy × Ttyy; number of gamete types. | Treat each gene separately and multiply; check with a small grid. State whether the probability is 'among all children' or 'among sons'. |
| Pedigree analysis | Identify whether a trait is dominant or recessive, autosomal or X-linked; give genotypes of marked members; blood group pedigrees. | Look for affected children of unaffected parents (recessive), father-to-son transmission (rules out X-linked), and sex bias (X-linked recessive affects mostly males). |
| Sex determination and linkage | XO, XY, ZW and honey bee mechanisms; which parent decides sex; Morgan's experiments, tightly and loosely linked genes, recombination frequency from bar graphs. | Name the heterogametic sex; for linkage, identify parental (largest) and recombinant (smallest) classes. |
| Disorders | Symptoms and karyotypes of Down's, Klinefelter's, Turner's; molecular basis of sickle-cell anaemia and PKU; thalassaemia genes; Mendelian versus chromosomal disorders. | Give cause (gene or chromosome), inheritance pattern and two symptoms for each. |
Tricks to remember Principles of Inheritance and Variation
Short memory aids. Say each one aloud once, then use it on a question the same day.
Ratios at a glance: 3:1, 1:2:1, 9:3:3:1, 1:1, 1:1:1:1
Mono F₂ 3:1 (dominance), 1:2:1 (incomplete or co-dominance, and every genotypic mono ratio); di F₂ 9:3:3:1; mono test cross 1:1; di test cross 1:1:1:1.
Use it when: Identifying the type of inheritance from a ratio.
Mendel's 7 pairs: 'Some Fat Fish Prefer Pink Shiny Seashells'
Stem height, Flower colour, Flower position, Pod shape, Pod colour, Seed shape, Seed colour.
Use it when: Listing Mendel's characters.
Klinefelter's has the 'K'extra X; Turner 'Turned' one X away
Klinefelter's 47, XXY (male, gynaecomastia, sterile); Turner's 45, XO (female, rudimentary ovaries, sterile).
Use it when: Sex chromosome disorders.
Sickle: '6' and 'V'
6th position, Glu → Val, GAG → GUG: one letter A → U changes everything.
Use it when: Molecular basis of sickle-cell anaemia.
Thalassaemia: 'Alpha 16 has two, Beta 11 has one'
α: HBA1 and HBA2 on chromosome 16; β: HBB on chromosome 11. Thalassaemia = Too few (quantity); sickle = wrong shape (quality).
Use it when: Thalassaemia versus sickle-cell anaemia.
Honey bee drone: 'No dad, no son; has grandpa, has grandson'
Drone (16) from unfertilised egg; sperms by mitosis; female (32) from fertilised egg.
Use it when: Haplodiploid sex determination.
Principles of Inheritance and Variation: board-level solved questions
Ordered from board level to HOTS. Cover the solution, write your own, then compare step by step.
Example 1: Test cross outcome · 1 mark · MCQBoard level
In Pisum sativum, violet flower (V) is dominant over white (v). What proportion of offspring of VV × vv will be white?
(a) 0% (b) 25% (c) 50% (d) 100%
Try it first, then show the solutionSolution
- VV gives only V gametes; vv gives only v.
- All offspring are Vv, violet.
Answer: (a) 0%
Example 2: Linkage assertion · 1 mark · Assertion-reasonBoard level
Assertion (A): Linked genes do not show the dihybrid F₂ ratio of 9 : 3 : 3 : 1.
Reason (R): Linked genes do not undergo independent assortment.
(a) Both A and R are true and R is the correct explanation of A.
(b) Both A and R are true but R is not the correct explanation of A.
(c) A is true but R is false.
(d) A is false but R is true.
Try it first, then show the solutionSolution
- The 9 : 3 : 3 : 1 ratio needs independent assortment.
- Linked genes on one chromosome stay together, so parental types exceed recombinants.
Answer: (a)
Example 3: Albino probability · 2 marks · Very short answerHarder board level
Albinism is autosomal recessive. A couple with normal pigmentation has an albino first child. What is the probability that their next child will be (a) albino, (b) normal but a carrier? (2 marks)
Try it first, then show the solutionSolution
- The albino child is aa, so both normal parents must be Aa. (½)
- Method 1: Aa × Aa → AA 1/4, Aa 1/2, aa 1/4. (a) 1/4; (b) carrier Aa = 1/2. (1)
- Method 2: each parent passes a with chance 1/2: aa = 1/2 × 1/2 = 1/4; Aa = A from father and a from mother (1/4) + a from father and A from mother (1/4) = 1/2. Earlier children do not change the odds. (½)
Answer: (a) 1/4 (b) 1/2
Example 4: Shorthorn cattle coat · 3 marks · Short answerHarder board level
In shorthorn cattle, a red bull (RR) is crossed with a white cow (WW); the calf is roan, with red and white hairs mixed all over. (a) What type of inheritance is this? (b) Work out the F₂ from roan × roan with ratios. (c) How does this differ from pink snapdragon? (3 marks)
Try it first, then show the solutionSolution
- (a) Co-dominance: the heterozygote RW shows both red and white hairs fully, not a blended colour. (1)
- (b) RW × RW → gametes R, W from each; RR : RW : RW : WW = 1 red : 2 roan : 1 white (genotypic and phenotypic ratios both 1 : 2 : 1). (1)
- (c) In snapdragon (incomplete dominance) the heterozygote Rr is an intermediate pink colour; in roan cattle both parental colours appear side by side. (1)
Answer: Co-dominance; F₂ 1 red : 2 roan : 1 white; roan shows both colours, pink is a blend.
Example 5: Recombination from a bar graph · 3 marks · Short answerHOTS / competency
Suppose a student test-crosses a dihybrid plant and gets four offspring classes: 45%, 45%, 5% and 5%. A second dihybrid for two other genes gives 25% in each of four classes. Explain both results and find the recombination frequency in the first. (3 marks)
Try it first, then show the solutionSolution
- First cross: two large classes (45% + 45%) are parental types; two small classes (5% + 5%) are recombinants, so the genes are linked. (1)
- RF = 5% + 5% = 10%: the genes are fairly tightly linked (close together on one chromosome). Check: 90% parental + 10% recombinant = 100%. (1)
- Second cross: 1 : 1 : 1 : 1 (25% each) is the result of independent assortment, so these genes are on different chromosomes (or very far apart). (1)
Answer: First: linked genes, RF = 10%; second: independent assortment (unlinked).
Example 6: Running and hair colour in mice · 3 marks · Short answerHarder board level
In mice, running (R) is dominant over walking in circles (r), and black hair (B) is dominant over brown (b); the genes assort independently. A running black mouse heterozygous for both genes is crossed with a running brown mouse heterozygous for running. Find the expected proportions of (a) running black, (b) running brown, (c) circling black, (d) circling brown. (3 marks)
Try it first, then show the solutionSolution
- Cross: RrBb × Rrbb. Rr × Rr → running 3/4, circling 1/4. Bb × bb → black 1/2, brown 1/2. (1)
- Method 1 (product): (a) 3/4 × 1/2 = 3/8; (b) 3/8; (c) 1/4 × 1/2 = 1/8; (d) 1/8. (1)
- Method 2 (grid of 4 × 2 = 8 boxes): R_B_ = 3 boxes, R_bb = 3, rrB_ = 1, rrbb = 1 → 3 : 3 : 1 : 1, the same. (1)
Answer: (a) 3/8 (b) 3/8 (c) 1/8 (d) 1/8, a 3 : 3 : 1 : 1 ratio.
Example 7: Molecular basis of sickle-cell anaemia · 5 marks · Long answerHarder board level
(a) Explain the molecular basis of sickle-cell anaemia and why it is called a point mutation. (2)
(b) Two carriers (HbᴬHbˢ) marry. Work out the cross and give the chance of a child being diseased, carrier and normal. (2)
(c) How does thalassaemia differ from sickle-cell anaemia? (1) (5 marks)
Try it first, then show the solutionSolution
- (a) A single base change in the 6th codon of the β-globin gene (GAG → GUG) replaces glutamic acid with valine at position 6 of the β-chain. (1)
- The mutant haemoglobin polymerises at low oxygen, changing RBCs from biconcave discs to sickle shapes; one base pair changed = point mutation. (1)
- (b) HbᴬHbˢ × HbᴬHbˢ → HbᴬHbᴬ, HbᴬHbˢ, HbᴬHbˢ, HbˢHbˢ. (1)
- Diseased 1/4, carrier 1/2, normal 1/4 (check: 1/4 + 1/2 + 1/4 = 1). (1)
- (c) Thalassaemia is quantitative (too few globin chains made); sickle-cell is qualitative (a globin that works wrongly). (1)
Answer: Glu → Val at β6 (GAG → GUG); carriers' children: 1/4 diseased, 1/2 carriers, 1/4 normal; thalassaemia is quantitative, sickle-cell qualitative.
Example 8: Colour-blind grandparents · 2 marks · Very short answerHOTS / competency
A man with normal vision, whose father was colour blind, marries a woman with normal vision whose mother was colour blind and whose father had normal vision. What percentage of their sons are expected to be colour blind? Explain. (2 marks)
Try it first, then show the solutionSolution
- The man has normal vision, so he is XY (his father's colour blindness does not reach him, since a son gets X from the mother). The woman got Xᶜ from her colour-blind mother but has normal vision, so she is a carrier XᶜX. (1)
- XᶜX × XY: sons are XᶜY or XY, each 1/2. So 50% of sons are expected to be colour blind (25% of all children). (1)
Answer: 50% of the sons.
Case-study practice (Section D style)
Read the situation, then answer every part. In the board paper this is a 4-mark question split into 1 + 2 + 1 marks.
Pedigree of a bleeding disorder
Suppose a family pedigree shows a disorder in which small cuts bleed for a long time. In generation I, a normal man and a normal woman have two sons (one affected) and two daughters (both normal). In generation II, one normal daughter marries a normal man and has an affected son. No woman in the family is affected, and no affected man has an affected son.
(i) · 1 mark
Identify the disorder and its pattern of inheritance.
Answer
Answer: Haemophilia, X-linked recessive.
Clotting defect; affected males born to unaffected parents; passed through carrier females.
(ii) · 2 marks
Give the genotypes of the generation I mother and of the generation II daughter who had an affected son. Explain.
Answer
Answer: Both are carriers, XᴴXʰ.
The generation I mother has normal blood clotting but an affected son, whose Xʰ must have come from her (1). The generation II daughter is normal but her son is affected, so she too carries Xʰ (1).
(iii) · 1 mark
What is the chance that a son of an affected man and a non-carrier woman will be haemophilic?
Answer
Answer: 0: sons receive Y from the father and a normal X from the mother.
XʰY × XᴴXᴴ → sons XᴴY (all normal); daughters XᴴXʰ (all carriers).
Karyotypes in a genetics clinic
Suppose a genetics clinic examines three karyotypes. Person P (phenotypically male, tall, with breast development) has 47 chromosomes. Person Q (female, short, with poorly developed secondary sexual characters) has 45 chromosomes. Person R (male, short, with a furrowed tongue and a single palm crease) has 47 chromosomes.
(i) · 1 mark
Name the disorder in P and give its sex-chromosome complement.
Answer
Answer: Klinefelter's syndrome, XXY.
Extra X in a male gives gynaecomastia and sterility.
(ii) · 2 marks
Name the disorders in Q and R, and state which involves an autosome and which a sex chromosome.
Answer
Answer: Q: Turner's syndrome (45, XO), a sex-chromosome monosomy; R: Down's syndrome (trisomy 21), an autosomal trisomy.
Q lacks one X (1); R has an extra chromosome 21, an autosome (1).
(iii) · 1 mark
What process during gamete formation can give rise to all three conditions?
Answer
Answer: Failure of segregation of chromosomes or chromatids (non-disjunction) during meiosis, causing aneuploidy.
Gametes with one extra or one missing chromosome fuse with normal gametes.
Where the marks are
How a typical answer is split into step marks. Show every step: a right final answer alone rarely earns full marks.
Using a Punnett square, show the test cross for a pea plant with green pods, where green (G) is dominant over yellow (g), for both possible genotypes. (2 marks) (2 marks)
| Step | Marks |
|---|---|
| GG × gg: gametes G and g; all offspring Gg, green pods (all dominant means the plant was homozygous). | 1 |
| Gg × gg: gametes G, g and g; offspring Gg (green) : gg (yellow) = 1 : 1 (means the plant was heterozygous). | 1 |
In a family, the father and son are colour blind and the mother has normal vision. Did the son inherit the disorder from his father? Explain with a cross. (3 marks) (3 marks)
| Step | Marks |
|---|---|
| Colour blindness is X-linked recessive; a son gets his X from his mother and his Y from his father, so he did not inherit it from the father. | 1 |
| The mother has normal vision but has an affected son, so she must be a carrier (XᶜX); father XᶜY. | 1 |
| Cross XᶜX × XᶜY → XᶜXᶜ (colour-blind daughter), XᶜX (carrier daughter), XᶜY (colour-blind son), XY (normal son); the son's Xᶜ came from his mother. | 1 |
(a) Work out a dihybrid cross between a pea plant with round yellow seeds (RRYY) and one with wrinkled green seeds (rryy) up to F₂. (3)
(b) State the law that this cross illustrates, and explain the conditions in which it does not hold. (2) (5 marks) (5 marks)
| Step | Marks |
|---|---|
| (a) P: RRYY × rryy; gametes RY and ry; F₁: RrYy, all round yellow. | 1 |
| F₁ gametes: RY, Ry, rY, ry (¼ each); 16-box Punnett square drawn. | 1 |
| F₂: 9 round yellow : 3 round green : 3 wrinkled yellow : 1 wrinkled green. | 1 |
| (b) Law of independent assortment: in a hybrid carrying two pairs of traits, each pair segregates independently of the other. | 1 |
| It does not hold for linked genes on the same chromosome: they are inherited together, parental combinations exceed recombinant ones and the ratio departs from 9 : 3 : 3 : 1. | 1 |
Where students lose marks in Principles of Inheritance and Variation
The slips examiners see most often, and what to write instead.
Mistake: Skipping the gametes in a cross
Wrong working
Tt × Tt → 3 tall : 1 dwarf.
Right working
Tt × Tt; gametes T, t and T, t; Punnett square TT, Tt, Tt, tt; phenotype 3 tall : 1 dwarf; genotype 1 TT : 2 Tt : 1 tt.
Do this: Always show parents, gametes, Punnett square and both ratios.
Usually costs: 1 to 2 marks in a 3- or 5-mark cross.
Mistake: Mixing up 'probability among sons' and 'probability among all children'
Do this: For a carrier mother × normal father, half the sons are affected (1/2) but only a quarter of all children (1/4).
Usually costs: 1 mark.
Mistake: Calling the ABO system incomplete dominance
Do this: IᴬIᴮ shows co-dominance (both sugars expressed); Iᴬ and Iᴮ are fully dominant over i; the system is also an example of multiple alleles.
Usually costs: 1 mark.
Mistake: Writing that males decide sex in birds
Do this: In birds females are ZW (heterogametic), so the egg decides the chick's sex.
Usually costs: 1 mark in assertion-reason questions.
Mistake: Saying thalassaemia makes an abnormal myoglobin or a wrong-shaped globin
Do this: Thalassaemia reduces the rate of synthesis of α or β globin chains of haemoglobin (quantitative); sickle-cell makes an abnormal β-globin (qualitative).
Usually costs: 1 mark.
Mistake: Using different letters for alleles
Do this: Use one letter in capital and small form (T and t), not T and d.
Usually costs: ½ mark per cross.
NCERT exercise guide: Principles of Inheritance and Variation
What each exercise in the NCERT chapter tests, how to approach it, and a question of the same kind solved step by step. Questions here are written in our own words.
Exercises on Mendel's experiments and laws
What it tests: Advantages of pea, definitions (dominance, homozygous, monohybrid), gamete types from 4 heterozygous loci, law of dominance, test cross, homozygous × heterozygous cross, TtYy × Ttyy.
How to approach it: Use the 2ⁿ rule for gamete types and the product rule for combined phenotypes; show a Punnett square for each cross.
Counting gametes, genotypes and phenotypes
A pea plant is heterozygous at three independent loci (AaBbCc), with complete dominance at each. If it is selfed, find (a) the number of kinds of gametes, (b) the number of genotypes and phenotypes in the offspring, and (c) the fraction of offspring that are aabbcc.
Show the solutionSolution
- (a) Each heterozygous locus gives 2 kinds of allele, so 2 × 2 × 2 = 2³ = 8 kinds of gametes.
- (b) Each locus alone gives 3 genotypes (AA, Aa, aa) and 2 phenotypes, so 3³ = 27 genotypes and 2³ = 8 phenotypes.
- (c) aa has probability 1/4 at each locus: 1/4 × 1/4 × 1/4 = 1/64 (one box of the 8 × 8 = 64-box grid).
Answer: (a) 8 (b) 27 genotypes, 8 phenotypes (c) 1/64
Exercises on linkage, Morgan, pedigree and sex determination
What it tests: Linked dihybrid crosses, Morgan's contribution, pedigree analysis and its use, sex determination in humans, chromosomal theory and who proposed it.
How to approach it: For linked genes, say that parental combinations dominate; for pedigrees, state the pattern and how it helps genetic counselling.
Complete linkage with alleles in the other arrangement
Two plants are both heterozygous for linked genes A and B, but each received Ab from one parent and aB from the other (Ab/aB). If there is no crossing over, what phenotypes appear in their offspring, and in what ratio? Compare with independent assortment.
Show the solutionSolution
- With complete linkage each parent makes only its parental gametes, Ab and aB, in equal numbers.
- Grid: Ab/Ab (A_bb), Ab/aB (A_B_), aB/Ab (A_B_), aB/aB (aaB_).
- Phenotypes: dominant A only : both dominant : dominant B only = 1 : 2 : 1; no aabb offspring appear. With independent assortment the ratio would be 9 : 3 : 3 : 1, including 1/16 aabb.
Answer: 1 A_bb : 2 A_B_ : 1 aaB_, with no double recessives, instead of 9 : 3 : 3 : 1.
Exercises on blood groups, dominance types, mutation and disorders
What it tests: Blood group O child of A and B parents, co-dominance and incomplete dominance with examples, point mutation, autosomal genetic disorders and their symptoms.
How to approach it: Work back from the recessive child to the parents' genotypes; for disorders give cause, pattern and two symptoms.
Identifying an autosomal disorder from symptoms
A child has high levels of phenylalanine in the blood and phenylpyruvic acid in the urine, with signs of mental retardation; both parents are normal. Name the disorder and its pattern of inheritance, give the parents' genotypes and the chance that their next child is affected.
Show the solutionSolution
- Phenylketonuria: the enzyme that converts phenylalanine to tyrosine is missing, so phenylalanine and phenylpyruvic acid build up.
- It is autosomal recessive; an affected child of normal parents means both parents are carriers, Pp.
- Pp × Pp gives pp with probability 1/4 for every child.
Answer: Phenylketonuria, autosomal recessive; parents Pp × Pp; 1/4 chance for each child.
Principles of Inheritance and Variation: previous year questions
- Asked in 8 of the 8 board papers we hold (2023 to 2026), on average 9.1 marks per paper; 34 questions in all, counting OR alternatives. In 4 of 4 sample papers.
Counted from the real papers on our previous year papers page, not estimated. Average marks are over every board paper we hold, with an OR pair counted once. Chapter tags are ours.
Solved board questions from Principles of Inheritance and Variation
Real questions from recent papers. Try each one first, then open our step-by-step solution with marks per step.
2026, set 57/1/1, Q8 · 1 mark · MCQ
In the following figure, two ways of pairing of two homologous pairs of chromosomes are shown. Which of the following phenomena is expressed ?
- (A)Linkage of genes
- (B)Independent assortment of genes
- (C)Multiple alleles
- (D)Incomplete dominance
Figure in the paper: Figure showing Possibility 1 and Possibility 2: 'Two equally probable arrangements at Metaphase I give rise to different chromosome combinations'. Each leads to Metaphase II cells (with alleles A, a, B, b labelled on chromosomes) and then gametes. Possibility 1 gives Combination 1 (A B) and Combination 2 (a b); Possibility 2 gives Combination 3 (A b) and Combination 4 (a B). See it in the official paper.
Try it first, then show our solutionSolution
- 1 mark
The two homologous pairs can line up in two equally likely ways at Metaphase I. This gives four allele combinations in the gametes (AB, ab, Ab, aB), which shows independent assortment.
Answer: (B) Independent assortment of genes
Where the marks are
- Selects independent assortment (1 mark)
2026, set 57/1/1, Q20(a) · 2 marks · Very short answerCompetency-based
Analyse the following two cases of sex determination in different organisms :
Case I : Males have (XO) sex chromosomes and females have two copies of same sex chromosome (XX).
Case II : Females have two different sex chromosomes (ZW) and males have two copies of same sex chromosome (ZZ).
Identify the type of heterogamety in each case, giving one example of each.
Try it first, then show our solutionSolution
- ½ mark
Case I (XX–XO): the male produces two kinds of gametes (with X and without X), so this is male heterogamety.
- ½ mark
Example: grasshopper (many insects).
- ½ mark
Case II (ZW–ZZ): the female produces two kinds of gametes (Z and W), so this is female heterogamety.
- ½ mark
Example: birds, e.g. hen.
Answer: Case I: male heterogamety, e.g. grasshopper; Case II: female heterogamety, e.g. birds (hen)
Where the marks are
- Case I identified as male heterogamety (½ mark)
- Correct example such as grasshopper (½ mark)
- Case II identified as female heterogamety (½ mark)
- Correct example such as birds/hen (½ mark)
2026, set 57/1/1, Q23 · 3 marks · Short answerCompetency-based
Answer the following.
- (a)0 marks
What is pedigree analysis ? Mention its importance in human genetics. (2 pts.) (1 + 1)
- (b)0 marks
Analyse the following pedigree and write the
(i) Pattern of inheritance. (½)
(ii) Give one example of disease showing such an inheritance pattern. (½)
Figure in the paper: Pedigree chart: a normal male and normal female parents at top; their six children in second row: normal male, affected male (filled), normal male (married to a normal female), the normal female, affected female (filled), normal male. The normal male–normal female couple has three children: an affected male (filled), and two normal females. See it in the official paper.
Try it first, then show our solutionSolution
- 1 mark
(a) Pedigree analysis is the study of how a trait is inherited over several generations of a family, using a family tree drawn with standard symbols.
- 1 mark
Importance: controlled crosses are not possible in humans, so pedigree analysis is used to trace the inheritance of a trait, abnormality or genetic disease. It shows whether the trait is dominant or recessive, autosomal or sex-linked, and helps in genetic counselling.
- ½ mark
(b)(i) Normal parents have affected children, so the trait is recessive and both parents are carriers. An affected daughter is born to a normal father; this rules out X-linked recessive inheritance, because the father would then have to be affected. The pattern is therefore autosomal recessive.
- ½ mark
(ii) Example: sickle-cell anaemia (also phenylketonuria or thalassemia).
Answer: (a) Study of inheritance of a trait over several generations of a family; used to trace the inheritance of traits and diseases; (b)(i) autosomal recessive; (ii) sickle-cell anaemia
Where the marks are
- Correct definition of pedigree analysis (1 mark)
- Importance: tracing the inheritance of a trait or disease in humans (1 mark)
- Autosomal recessive (½ mark)
- Correct example, e.g. sickle-cell anaemia/phenylketonuria/thalassemia (½ mark)
Every Principles of Inheritance and Variation question, by year
- For 2027
Sample paper 2026-27: Q8 (1 mark, solved), Q14 (1 mark, solved), Q24 (3 marks, solved), Q25 (3 marks, solved)
- 2026
Set 57/1/1: Q8 (1 mark, solved), Q20(a) (2 marks, solved), Q23 (3 marks, solved), Q30 (4 marks, solved)
Set 57/5/1: Q4 (1 mark, solved), Q32(a) (5 marks, solved), Q32(b) (5 marks, solved)
Sample paper 2025-26: Q7 (1 mark, solved), Q24 (3 marks, solved)
- 2025
Set 57/1/1: Q1 (1 mark, solved), Q16 (1 mark, solved), Q19 (2 marks, solved), Q20 (2 marks, solved), Q33(A) (5 marks, solved)
Set 57/7/1: Q5 (1 mark, solved), Q15 (1 mark, solved), Q21 (2 marks, solved), Q31(b) (5 marks, solved)
Sample paper 2024-25: Q6 (1 mark, solved), Q7 (1 mark, solved)
- 2024
Set 57/1/1: Q4 (1 mark, solved), Q14 (1 mark, solved), Q26 (3 marks, solved), Q32(a) (5 marks, solved), Q32(b) (5 marks, solved)
Set 57/5/1: Q1 (1 mark, solved), Q2 (1 mark, solved), Q9 (1 mark, solved), Q11 (1 mark, solved), Q15 (1 mark, solved)
Sample paper 2023-24: Q4 (1 mark, solved), Q8 (1 mark, solved), Q32(b) (5 marks, solved)
- 2023
Set 57/1/1: Q1 (1 mark, solved), Q16 (1 mark, solved), Q23 (3 marks, solved), Q31(b) (5 marks, solved)
Set 57/5/1: Q16 (1 mark, solved), Q19 (2 marks, solved), Q30 (4 marks, solved), Q32(b) (5 marks, solved)
Practice questions on Principles of Inheritance and Variation
Write each answer on paper first. Open the hint only if you are stuck, and the answer only when you have finished.
Q1 · 1 mark · MCQBoard level
A single gene controlling more than one trait shows:
(a) polygenic inheritance (b) pleiotropy (c) co-dominance (d) multiple allelismHint
Phenylketonuria.
Answer
(b) pleiotropy
Q2 · 1 mark · Assertion-reasonBoard level
Assertion (A): In birds, the sex of the offspring is determined by the male.
Reason (R): In birds, males are homogametic and females heterogametic.
(a) Both A and R are true and R is the correct explanation of A.
(b) Both A and R are true but R is not the correct explanation of A.
(c) A is true but R is false.
(d) A is false but R is true.Hint
Which sex makes two kinds of gametes?
Answer
(d) A is false (the female decides) but R is true.
Q3 · 1 mark · MCQBoard level
Which feature is NOT seen in Down's syndrome?
(a) furrowed tongue (b) characteristic palm crease (c) rudimentary ovaries (d) retarded mental developmentHint
That belongs to a sex-chromosome disorder.
Answer
(c) rudimentary ovaries (Turner's syndrome)
Q4 · 2 marks · Very short answerBoard level
Differentiate between polygenic inheritance and pleiotropy, with one example of each. (2 marks)
Hint
Many genes, one trait versus one gene, many traits.
Answer
Polygenic: one trait controlled by three or more genes with additive effects and environmental influence, e.g. human skin colour or height (1). Pleiotropy: one gene affects several traits, e.g. the phenylalanine hydroxylase gene in phenylketonuria (mental retardation and reduced pigmentation) (1).
Q5 · 2 marks · Very short answerHarder board level
A man of blood group AB marries a woman of group O. List the possible blood groups of their children with probabilities. Could they have a child of group AB? (2 marks)
Hint
IᴬIᴮ × ii.
Answer
IᴬIᴮ × ii → Iᴬi (A) and Iᴮi (B), each 1/2 (1). No AB or O child is possible, because every child gets i from the mother and only one of Iᴬ or Iᴮ from the father (1).
Q6 · 2 marks · Very short answerHarder board level
How many kinds of gametes will be produced by AaBBCcDd, and what fraction of them will be aBcd? (2 marks)
Hint
BB is homozygous.
Answer
Heterozygous loci: A, C, D = 3, so 2³ = 8 kinds of gametes (1). aBcd: a (1/2) × B (1) × c (1/2) × d (1/2) = 1/8 (1).
Q7 · 3 marks · Short answerBoard level
Explain why Morgan chose Drosophila, and what he concluded about genes that are tightly and loosely linked. (3 marks)
Hint
Two weeks; 1.3% versus 37.2%.
Answer
Drosophila grows on a simple synthetic medium, completes its life cycle in about two weeks, gives many progeny per mating, has easily distinguished sexes and many visible variations (1). Genes on the same chromosome are linked and show more parental than recombinant types (1). Tightly linked genes (white–yellow, 1.3%) show little recombination; loosely linked ones (white–miniature wing, 37.2%) show more; RF measures the distance between genes (Sturtevant's maps) (1).
Q8 · 3 marks · Short answerHarder board level
A tall pea plant with violet flowers of unknown genotype is given. Using only selfing, explain how you would find its genotype for both characters. What results would show it is TtVv? (3 marks)
Hint
What does a heterozygote do when selfed?
Answer
Self the plant and grow the seeds (1). If all offspring are tall violet, it is TTVV; if dwarfs appear (3 : 1 for height) it is Tt; if whites appear it is Vv (1). If it is TtVv, offspring show four classes, tall violet : tall white : dwarf violet : dwarf white = 9 : 3 : 3 : 1 (1).
Q9 · 3 marks · Short answerHOTS / competency
Two normal parents have a son with haemophilia and a daughter who is normal. What is the probability that the daughter is a carrier? If she marries a normal man, what is the chance that her first son will be haemophilic? (3 marks)
Hint
Two steps of probability.
Answer
Mother is XᴴXʰ, father XᴴY; daughters are XᴴXᴴ or XᴴXʰ with equal chance, so the daughter is a carrier with probability 1/2 (1). If she is a carrier, her son is affected with probability 1/2 (1). Overall chance = 1/2 × 1/2 = 1/4. Check: listing outcomes, non-carrier (1/2) gives 0 and carrier (1/2) gives 1/2, average 1/4 (1).
Q10 · 5 marks · Long answerHarder board level
(a) How does a chromosomal disorder differ from a Mendelian disorder? Give one example of each. (2)
(b) Describe the cause and two symptoms each of Klinefelter's and Turner's syndromes. (2)
(c) Why are both individuals sterile? (1) (5 marks)Hint
Gene versus chromosome number.
Answer
(a) Mendelian: mutation in a single gene, inherited by Mendelian rules and traced by pedigree, e.g. haemophilia; chromosomal: absence, excess or abnormal arrangement of chromosomes, seen in the karyotype, e.g. Down's syndrome (2). (b) Klinefelter's: extra X in a male (47, XXY); masculine body with gynaecomastia, tall stature, sterile. Turner's: one X missing (45, XO); short stature, rudimentary ovaries, lack of secondary sexual characters (2). (c) Klinefelter's males have defective gonad development and Turner's females have rudimentary ovaries, so neither produces normal gametes (1).
Q11 · 3 marks · Short answerHOTS / competency
Suppose a drone honey bee and a queen mate. Explain why the drone has no father but has a grandfather, and how many chromosomes are in (a) the drone's sperm, (b) a worker, (c) an unfertilised egg of the queen. (3 marks)
Hint
Drones come from unfertilised eggs.
Answer
A drone develops from an unfertilised egg by parthenogenesis, so there is no male parent; but its mother (the queen) came from a fertilised egg, so the drone has a maternal grandfather (1). (a) 16 (sperms by mitosis from the haploid drone) (b) 32 (diploid female) (c) 16 (haploid egg after meiosis) (2).
Q12 · 2 marks · Very short answerHarder board level
Pea seeds from a Bb plant are round but their starch grains are of intermediate size. What does this tell you about dominance? (2 marks)
Hint
Depends on which phenotype you look at.
Answer
For seed shape, B appears completely dominant (Bb round like BB); for starch grain size, Bb is intermediate, so the same alleles show incomplete dominance (1). So dominance is not a fixed property of a gene; it depends on the gene product and on the phenotype chosen for study (1).
Test your recall
Answer in your head or on paper first, then open the card. Pulling an answer out of memory makes it stick far better than re-reading.
1.For how many years did Mendel do hybridisation experiments on pea?Show answer
Seven years, 1856–1863.
2.What is a true-breeding line?Show answer
A line that, after continuous self-pollination, shows stable inheritance and expression of a trait for several generations.
3.How many genotypes and phenotypes are possible in the ABO system?Show answer
Six genotypes and four phenotypes.
4.Who rediscovered Mendel's work in 1900?Show answer
de Vries, Correns and von Tschermak, independently.
5.Who proposed the chromosomal theory of inheritance?Show answer
Walter Sutton and Theodore Boveri; Sutton named it.
6.What were the recombination frequencies Morgan found for white–yellow and white–miniature wing?Show answer
1.3% and 37.2%.
7.Who first used recombination frequency to map genes?Show answer
Alfred Sturtevant, Morgan's student.
8.What did Henking call the structure he saw in half the sperms?Show answer
The X body (later the X chromosome).
9.What percentage of males and females are red-green colour blind?Show answer
About 8% of males and 0.4% of females.
10.Which enzyme is missing in phenylketonuria?Show answer
Phenylalanine hydroxylase, which converts phenylalanine to tyrosine.
11.What is aneuploidy and what causes it?Show answer
Gain or loss of chromosomes, caused by failure of chromatids to segregate during cell division.
12.What causes polyploidy?Show answer
Failure of cytokinesis after telophase, giving an extra whole set of chromosomes.
Best order to study it
- Learn the terms and Mendel's monohybrid cross with the Punnett square; practise the test cross and the laws of dominance and segregation.
- Learn incomplete dominance, co-dominance and multiple alleles (ABO), then pleiotropy and the elementary idea of polygenic inheritance.
- Work the dihybrid cross until you can write the 16-box square from memory; learn independent assortment and the product rule.
- Learn the chromosomal theory, Morgan's linkage and recombination work and how RF is calculated.
- Learn the four sex-determination systems, then pedigree reading, the Mendelian disorders and the chromosomal disorders.
Quick revision checklist
The night before the exam: can you do each of these without looking?
- Can you work a monohybrid cross to F₂ and give both ratios?
- Can you design a test cross and interpret 1 : 1 versus all-dominant results?
- Can you explain dominance in terms of a working and a non-working enzyme?
- Can you work a dihybrid cross and list its 9 genotypes?
- Can you solve an ABO blood group problem and explain co-dominance?
- Can you calculate a recombination frequency from test-cross numbers?
- Can you compare XO, XY, ZW and haplodiploid sex determination?
- Can you identify the inheritance pattern in a pedigree and describe the causes of sickle-cell anaemia, thalassaemia and the three syndromes?
Principles of Inheritance and Variation: frequently asked questions
How many marks does this chapter carry in CBSE Class 12 Biology 2026-27?
It is part of Unit VII, Genetics and Evolution, which carries 20 of the 70 theory marks together with Molecular Basis of Inheritance and Evolution. In the 12 papers in our question bank (2023-2026 board sets and sample papers up to 2027), questions tagged to this chapter, counting internal-choice alternatives, added up to between 2 and 15 marks per paper.
How much polygenic inheritance do I need?
Only an elementary idea: that traits like height and skin colour show a continuous range, are controlled by three or more genes with additive effects, and are influenced by the environment, with the AABBCC to aabbcc skin colour model.
What is the difference between incomplete dominance and co-dominance?
In incomplete dominance the heterozygote is intermediate (pink snapdragon from red and white). In co-dominance the heterozygote shows both parental traits fully at the same time (IᴬIᴮ has both A and B sugars on its red blood cells).
How do I tell an X-linked recessive trait in a pedigree?
Mostly males are affected; affected sons usually have unaffected carrier mothers; the trait is never passed from father to son; an affected father passes the allele to all his daughters, who become carriers.
Why does linkage change the 9:3:3:1 ratio?
Linked genes lie on the same chromosome and tend to be inherited together, so parental combinations appear far more often than recombinant ones; independent assortment, which produces 9 : 3 : 3 : 1, does not hold.
Based on: CBSE Biology (044) syllabus 2026-27; NCERT Biology, Textbook for Class XII (Reprint 2026-27)