Q.Name a human genetic disorder due to the following :
🔒You're viewing a preview — the full solution, concept, methods & PYQ mapping are locked.
🔒 Start your 14-day free trial to unlock the full solution →Part (a)Concept understanding — Sex Determination — Ethics and Social Misuse
Sex Determination Ethics: A First Look
Imagine a family waiting for a baby. Relatives whisper, "Hope it's a boy" or "Thank God it's a girl." That casual reaction carries a heavy ethical weight. Sex determination ethics is the study of the moral questions surrounding the practice of choosing or knowing the sex of a child before birth, and the social consequences that follow.
The Core Idea
At its simplest, sex determination ethics examines whether it is morally right to use medical technology to find out whether an unborn baby is male or female, and then to act on that information — especially by aborting a fetus of the "unwanted" sex. The ethical problem is not about the technology itself (ultrasound, amniocentesis), but about what people do with that knowledge.
The NCERT textbook for Class 12 (Biology, Chapter 4: Reproductive Health) states this clearly: "Amniocentesis — a technique to determine the sex of the unborn child — is being misused to kill the female foetuses." The textbook calls this a "severe" misuse and links it directly to the declining child sex ratio in India.
Why Does This Become an Ethical Issue?
Three things make sex determination an ethical problem, not just a medical one:
- Discrimination against females. The practice is overwhelmingly used to abort female fetuses. This treats being female as a defect or a burden, which is a form of gender-based violence before birth.
- Social imbalance. When many more boys are born than girls, society faces a shortage of women. This leads to forced marriages, trafficking, and increased violence against women. The NCERT notes that the child sex ratio in India has dropped alarmingly — from 945 females per 1000 males in 1991 to 919 in 2011.
- Violation of the child's right to exist. The fetus is not given a chance to live simply because of its sex. This raises deep questions about equality and the value of every human life.
The Indian government made sex determination illegal under the Pre-Conception and Pre-Natal Diagnostic Techniques (PCPNDT) Act, 1994. This law bans doctors from telling parents the sex of the fetus, and bans any advertisement or test done solely for sex selection. Violation can lead to imprisonment and heavy fines.
The Everyday Intuition
Think of it this way: if you were told that your school would only admit boys next year, you would immediately see that as unfair. Sex determination ethics extends that same intuition to the womb. It asks: Is it fair to decide that a girl should not be born, simply because she is a girl?
The answer, from an ethical standpoint, is no. Every child — boy or girl — has equal moral worth. Using technology to eliminate an entire sex is a form of systematic discrimination that harms individuals and destabilises society.
Why It Matters for a Commerce/Humanities Student
You might think this is a "science topic," but it is deeply connected to what you study:
- Economics: A skewed sex ratio affects labour markets, marriage markets, and long-term economic growth. Fewer women mean fewer workers, consumers, and entrepreneurs.
- Political Science: Laws like the PCPNDT Act are examples of the state intervening to protect fundamental rights (right to life, right to equality). You can analyse how effective such laws are.
- Sociology: Sex determination reflects deep-rooted patriarchy, son preference, and dowry practices. It is a case study in how social norms shape — and are shaped by — technology.
- Ethics (if you study it): This is a classic dilemma: individual choice (parents wanting a son) versus social good (gender balance). Where do you draw the line?
A Few Key Points to Remember …
Part (b)Concept understanding — Mendelian Genetics Basics
Mendelian Genetics Basics
Imagine you have a box of coloured beads — red and white. If you pick one bead from the box, you get either red or white. Now imagine that the colour of your eyes, or the shape of your earlobe, is decided by something like that: a tiny "packet" inside your cells that comes in two versions, and you inherit one from each parent. That is the core idea of Mendelian genetics.
The everyday intuition
You have probably noticed that children often look like their parents — same hair colour, same dimples, same height. But they are never exact copies. Why? Because each parent contributes half of the "instructions" for building a child. Those instructions come in pairs, one from mother and one from father. Sometimes one instruction overrides the other; sometimes they blend. Gregor Mendel, a 19th-century monk, figured out the rules by watching pea plants — tall vs short, yellow vs green seeds — and counting what appeared in the next generation.
The precise meaning
Mendelian genetics is the study of how traits are passed from parents to offspring through genes. A gene is a unit of heredity — a stretch of DNA that codes for a specific characteristic, like flower colour. Each gene comes in different versions called alleles. For every gene, you inherit two alleles: one from your mother, one from your father.
If the two alleles are identical, you are homozygous for that trait. If they are different, you are heterozygous. In a heterozygous pair, one allele may be dominant — it shows up in the appearance — and the other recessive — it stays hidden unless both alleles are recessive.
Mendel's key insight was that traits are not blended like paint. Instead, alleles remain separate and are passed on intact. A recessive allele can skip a generation and reappear later, unchanged.
Why it matters
Mendelian genetics is the foundation of modern biology. It explains:
- Why some diseases run in families (like cystic fibrosis or sickle-cell anaemia)
- How plant and animal breeders create new varieties
- Why you might have your grandmother's eyes but not your mother's
The NCERT textbook states that Mendel's work established the laws of inheritance — the Law of Dominance, the Law of Segregation, and the Law of Independent Assortment. These laws describe how alleles separate during the formation of eggs and sperm, and how different genes are inherited independently of one another.
Key terms at a glance
- Gene: a unit of heredity on a chromosome
- Allele: a variant form of a gene
- Dominant: the allele that expresses itself even when paired with a different allele
- Recessive: the allele that expresses itself only when paired with an identical recessive allele
- Homozygous: having two identical alleles for a gene
- Heterozygous: having two different alleles for a gene …
Part (a)
(a) Additional X-chromosome in a male (47, XXY): Klinefelter's syndrome. …
Part (a): additional X in a male → Klinefelter's syndrome (XXY); loss of an X in a female → Turner's syndrome (XO).
Part (b): aneuploidy → genetic disorders / developmental abnormalities from unbalanced chromosome number.
Part (a)
A normal human has 46 chromosomes (23 pairs); errors in chromosome number cause specific syndromes.
- (a) An additional X-chromosome in a male gives a karyotype of 47, XXY. This causes Klinefelter's syndrome — the individual is phenotypically male but often shows some feminine features (e.g. gynaecomastia), small testes and sterility. …
Showing the 12 most recent of 69 on this concept.
- AP EAPCET 2026Set ap-2026-05-19-FN1 markMCQQ.What is the percentage of Pink colour flowered plants in F2 generation of snapdragon monohybrid cross (A) 25 (B) 50 (C) 75 (D) 100
›Reveal solutionSolution
Snapdragon flower colour shows incomplete dominance, giving an F2 genotypic (and here, phenotypic) ratio of 1 red : 2 pink : 1 white, so pink = 50%.
Concept and Intuition
In cases of incomplete dominance, the heterozygote's phenotype is intermediate between the two homozygous parental phenotypes because neither allele is fully dominant — there is a partial/blended expression (e.g., due to partial enzyme/pigment production). In the snapdragon (Antirrhinum) monohybrid cross for flower colour, red (RR) crossed with white (rr) gives an F1 that is entirely pink (Rr), not red, showing the alleles are not fully dominant/recessive. Selfing the pink F1 (Rr × Rr) reproduces the classic Mendelian 1:2:1 genotypic ratio, and because genotype and phenotype track together here, the phenotypic ratio is also 1 red : 2 pink : 1 white.
Step-by-Step Solution
- Set up the cross: RR (red) × rr (white) → F1 all Rr (pink), confirming incomplete dominance. …
- AP EAPCET 2026Set ap-2026-05-19-FN1 markMCQQ.Study the following statements regarding genic balance theory and identify incorrect statements. A) The production of gametes with abnormal number of chromosomes is due to non-disjunction. B) In Drosophila 'XO' males produce motile sperms. C) Sex index < 0.5 indicates intersexes in Drosophila. D) 'Y' chromosome in Drosophila lacks testis determining factor. (A) A & C (B) A & D (C) B & C (D) B & D
›Reveal solutionSolution
The genic balance theory (Bridges) uses the X:autosome ratio to fix sex in
Drosophila; XO flies are sterile (not fertile) males, and ratio <0.5 gives
super males, not intersexes — so B and C are the incorrect statements.
Answer: (C).
Concept and Intuition
Bridges proposed that sex in Drosophila is decided not just by presence of Y,
but by the ratio of X chromosomes to sets of autosomes (X:A, the "sex index"):
- Sex index = 1.0 → normal female (XX)
- Sex index = 0.5 → normal male (XY or XO)
- 0.5 < index < 1.0 → intersex
- index < 0.5 → super male (metamale)
- index > 1.0 → super female (metafemale)
Crucially, in Drosophila the Y chromosome does not determine maleness (that
job is done by the X:A ratio) — but the Y chromosome IS still needed for
fertility: XO males look and behave male but are sterile because normal
sperm maturation requires Y-linked fertility genes.
Step-by-Step Solution
- A: Non-disjunction → unequal chromosome distribution in gametes → gametes with abnormal chromosome numbers. This is a correct, well-established fact.
- D: Y chromosome in Drosophila lacks a testis-determining factor (sex is set by X:A ratio, not by Y) — correct statement.
- B: XO males — the X:A ratio (0.5) still makes them male, but they lack the Y chromosome's fertility genes, so they are sterile, not "produce motile …
- AP EAPCET 2026Set ap-2026-05-19-FN1 markMCQQ.The blood group of mother is B and the progeny in the family is 25% A blood type, 25% AB and 50% B type. What are the genotypes of the parents. (A) IAIA father and IBIO mother (B) IAIO father and IBIO mother (C) IAIB father and IBIB mother (D) IAIB father and IBIO mother
›Reveal solutionSolution
Testing each option against the observed 25% A : 25% AB : 50% B ratio, only
father IAIB × mother IBIO reproduces it exactly. Answer: (D).
Concept and Intuition
ABO blood grouping is governed by multiple alleles (IA, IB, IO) at a
single locus, where IA and IB are co-dominant to each other and both
dominant to IO. To find parental genotypes from an observed progeny ratio,
we can test each candidate cross by Punnett-square logic and check whether it
reproduces the given proportions.
Step-by-Step Solution
- Mother's phenotype is B, so her genotype must be IBIB or IBIO — this alone doesn't decide between the options, so test the crosses.
- Try option (D): father IAIB (gametes IA, IB, each 1/2), mother IBIO (gametes IB, IO, each 1/2).
- Combine gametes:
- IA×IB→IAIB (AB) — 1/4
- IA×IO→IAIO (A) — 1/4
- IB×IB→IBIB (B) — 1/4
- IB×IO→IBIO (B) — 1/4 …
- AP EAPCET 2026Set ap-2026-05-19-AN1 markMCQQ.Mendelian genetic disorder controlled by a single gene on chromosome 11 of each parent is (A) Phenylketonuria (B) Cystic fibrosis (C) Sickle-cell anaemia (D) Cooley's Anaemia
›Reveal solutionSolution
Cooley's anaemia (beta-thalassemia) is controlled by the single HBB gene on chromosome 11 of each parent — option (D).
Concept and Intuition
NCERT distinguishes the thalassemias: alpha-thalassemia is controlled by two closely linked genes (HBA1, HBA2) on chromosome 16 of each parent, while beta-thalassemia — Cooley's anaemia — is controlled by a single gene, HBB, on chromosome 11 of each parent. The wording of the stem matches this exact statement.
Step-by-Step Solution
- Phenylketonuria: PAH gene on chromosome 12 — not chromosome 11.
- Cystic fibrosis: CFTR gene on chromosome 7 — not chromosome 11.
- Sickle-cell anaemia also involves HBB on chromosome 11, but NCERT does not use the 'single gene ... chromosome 11 of each parent' descriptor for it. …
- AP EAPCET 2026Set ap-2026-05-20-FN1 markMCQQ.Assertion (A): Though the parents contain two alleles during gamete formation, the alleles of a pair segregate from each other. Reason (R): Segregation is a universal phenomenon in all organisms showing sexual method of reproduction. (A) Both (A) and (R) are correct and (R) is the correct explanation to (A) (B) Both (A) and (R) are correct but (R) is not correct explanation for (A) (C) (A) is correct (R) is wrong (D) (A) is wrong (R) is correct
›Reveal solutionSolution
Mendel's Law of Segregation: alleles separate during gamete formation, and this is universally true across sexually reproducing organisms because it is a direct consequence of meiosis. Both statements true, R explains A.
Concept and Intuition
A diploid organism carries two alleles for every gene (one from each parent). During meiosis, homologous chromosomes — and with them, the two alleles of each gene — separate into different gametes, so any single gamete carries only one allele per gene. This isn't a quirk of Mendel's pea plants; it is a mechanical outcome of the meiotic process itself, which every sexually reproducing organism undergoes to produce haploid gametes.
Step-by-Step Solution
- Assertion: alleles of a pair segregate during gamete formation — this is exactly Mendel's Law of Segregation, verified true by countless organisms since. …
- AP EAPCET 2026Set ap-2026-05-20-FN1 markMCQQ.Expression of more than one phenotypic trait by a single gene is known as (A) Pleiotropy (B) Polygenetic inheritance (C) Multiple allelism (D) Lyonisation
›Reveal solutionSolution
A single gene producing effects on more than one phenotypic trait is the definition of pleiotropy.
Concept and Intuition
Most genes are studied for one visible trait, but many gene products (often enzymes early in a biochemical pathway) influence several downstream processes at once. When a single gene's mutation therefore shows up as changes in multiple, often unrelated, characteristics simultaneously, geneticists call this pleiotropy. This is distinct from polygenic inheritance (many genes controlling one trait), multiple allelism (many alternate forms of one gene, e.g., ABO blood groups), and lyonisation (X-chromosome inactivation in females).
Step-by-Step Solution
- Read the definition carefully: 'expression of more than one phenotypic trait by a single gene.'
- Match this to the standard genetics term: pleiotropy is defined exactly this way. …
- AP EAPCET 2026Set ap-2026-05-20-FN1 markMCQQ.If blood group of father is A (homozygous) and that of mother is O, these blood groups are not expected in their children. (A) B, AB, A (B) B, AB, O (C) A, O, AB (D) A, B, O
›Reveal solutionSolution
With father IAIA and mother ii, every child is genotype IAi (blood group A) — so B, AB and O are all impossible.
Concept and Intuition
ABO blood group is controlled by multiple alleles IA, IB, i, with IA and IB co-dominant and both dominant over i. A homozygous IAIA father can only pass on the IA allele (he has no other allele to give), and an ii mother can only pass on i. Every offspring therefore receives exactly one IA and one i, giving genotype IAi, phenotype blood group A, with no variation possible.
Step-by-Step Solution
- Father's genotype: IAIA (homozygous A) — gametes are all IA.
- Mother's genotype: ii (O) — gametes are all i.
- Cross: IAIA×ii⇒ all offspring IAi — phenotype A, with 100% certainty. …
- AP EAPCET 2026Set ap-2026-05-20-FN1 markMCQQ.If sex index ratio of a Drosophila is 0.66, its sexual phenotype is (A) Intersex (B) Meta male (C) Meta female (D) Triploid male
›Reveal solutionSolution
A sex index of 0.66 lies strictly between the male (0.5) and female (1.0) values, which by Bridges' genic balance theory in Drosophila defines an intersex.
Concept and Intuition
Calvin Bridges' genic balance theory explains Drosophila sex determination by the ratio of X chromosomes to sets of autosomes (X:A ratio, or 'sex index'). A ratio of 1.0 (2X : 2 autosome-sets) gives a normal female; 0.5 (1X : 2 autosome-sets) gives a normal male. Ratios above 1.0 give metafemales (superfemales), ratios below 0.5 give metamales (supermales), and ratios strictly between 0.5 and 1.0 give intersexes — flies with an ambiguous mix of male and female characteristics because the genic balance is intermediate.
Step-by-Step Solution
- Recall the reference points: female index = 1.0, male index = 0.5.
- Given index = 0.66 — this lies between 0.5 and 1.0. …
- AP EAPCET 2026Set ap-2026-05-20-AN1 markMCQQ.If blood group of mother is B (homozygous) and that of father is A (homozygous), these blood groups are absent in their children. (A) A, AB, B (B) A, AB, O (C) B, O, A (D) AB, O, B
›Reveal solutionSolution
This is a classic ABO blood group cross using co-dominant alleles IA and IB.
Concept and Intuition
The ABO blood group system involves three alleles at one locus: IA and IB are co-dominant to each other and both dominant over i (the recessive allele for O). A homozygous B individual has genotype IBIB and can only contribute the IB allele to offspring. A homozygous A individual has genotype IAIA and can only contribute the IA allele. Since neither parent carries the recessive i allele, no child can be blood group O; and since every child receives one IA and one IB, every child is genotype IAIB = blood group AB, so no child can be pure A or pure B either.
Step-by-Step Solution
- Mother: IBIB (homozygous B) → gametes are all IB.
- Father: IAIA (homozygous A) → gametes are all IA.
- Cross: every offspring gets IA from father and IB from mother → genotype IAIB → phenotype AB, with 100% probability. …
- AP EAPCET 2026Set ap-2026-05-20-AN1 markMCQQ.Sex determination in butter flies is (A) XX-XY type (B) XX-XO type (C) ZZ-ZW type (D) ZZ-ZO type
›Reveal solutionSolution
Sex determination in butterflies (Lepidoptera) follows the ZW system, where the female is heterogametic (ZW) and the male is homogametic (ZZ).
Concept and Intuition
Sex-chromosome systems aren't universal across animals. In the familiar XX–XY system (mammals, and also Drosophila), the male is the heterogametic sex. But several groups have the opposite arrangement, called the ZW system, where the female is heterogametic (ZW) and the male is homogametic (ZZ). Birds are the textbook example of ZW; Lepidoptera (moths and butterflies) also use this system.
Step-by-Step Solution
- Identify the taxonomic group: butterflies belong to order Lepidoptera.
- Recall the sex-determination systems taught: XX–XY (e.g., humans, Drosophila, male heterogametic), XX–XO (e.g., grasshoppers, male has only one X, no Y), ZZ–ZW (birds, most Lepidoptera; female heterogametic), and ZZ–ZO (some other insects).
- Lepidoptera (which includes butterflies) is one of the classic examples, alongside birds, of the ZZ–ZW system. …
- AP EAPCET 2025Set ap-2025-05-19-AN1 markMCQQ.If two heterozygous tall garden pea plants are crossed, the expected genotypic ratio in their off spring is (A) 3 : 1 (B) 1 : 1 (C) 1 : 2 : 1 (D) 1 : 0
›Reveal solutionSolution
This tests the classic Mendelian monohybrid cross genotypic ratio. The answer is (C) 1 : 2 : 1.
Concept and Intuition
When two heterozygotes for a single gene are crossed (Tt × Tt), each parent contributes either the dominant (T) or recessive (t) allele with equal probability (1/2 each) to the gametes. Combining gametes via a Punnett square yields four equally likely combinations: TT, Tt, Tt, tt — i.e., genotypes in the ratio 1 TT : 2 Tt : 1 tt. This is distinct from the phenotypic ratio, which collapses TT and Tt into the same "tall" phenotype, giving 3 tall : 1 dwarf (3:1).
Step-by-Step Solution
- Set up the cross: Tt (tall, heterozygous) × Tt (tall, heterozygous).
- Gametes from each parent: T or t, each with probability 1/2. …
- AP EAPCET 2025Set ap-2025-05-19-AN1 markMCQQ.Match the following Method of sex determination - Example A) XX - XY I) Grasshoppers B) XX - XO II) Birds C) ZW - ZZ III) Human beings D) ZZ - ZO IV) Moths V) Honey bees Identify the correct match (A) A-II, B-III, C-IV, D-V (B) A-III, B-IV, C-I, D-II (C) A-V, B-II, C-III, D-IV (D) A-III, B-I, C-II, D-IV
›Reveal solutionSolution
This tests recall of chromosomal sex-determination systems across different animal groups. The answer is (D) A-III, B-I, C-II, D-IV.
Concept and Intuition
Different animal groups use different combinations of sex chromosomes to determine sex, and whether the male or the female is the heterogametic sex varies by group:
- XX-XY: the female is XX (homogametic), the male is XY (heterogametic) — the system found in human beings and most mammals.
- XX-XO: the female is XX, the male has only a single X and no partner (XO) — classically illustrated by grasshoppers.
- ZW-ZZ: here it is the female that is heterogametic (ZW), while the male is ZZ (homogametic) — found in birds.
- ZZ-ZO: a rarer variant where the female is ZO (lacking a chromosome partner) and the male is ZZ — found in certain moths.
Step-by-Step Solution
- A) XX-XY → matches Human beings (III), the standard mammalian system.
- B) XX-XO → matches Grasshoppers (I), the textbook example of this system. …
🎓Unlock everything free for 14 days
- ✓Full step-by-step solutions
- ✓Concept-first explanations
- ✓Methods, shortcuts & mistakes
- ✓PYQ mapping + timed mock tests
Full access for 14 days. No credit card required.