Q.Name a human genetic disorder due to the following :
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🔒 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. …
- GUJCET 2026Set 051 markMCQQ.A colour blind man marries a female with homozygous normal vision. What will be the possibility of colour blindness in their male children? (A) 100% (B) 50% (C) 25% (D) 0%
›Reveal solutionSolution
Colour-blind father × homozygous-normal mother → no affected sons.
Colour blindness is X-linked recessive. Father: XcY; mother: XX (homozygous normal). Sons get their X from the mother (normal) and Y from the father, so all sons are XY = normal vision. Probabili …
- GSEB Higher Secondary Certificate (HSC) Examination 2026Set ANNUAL1 markMCQQ.Which process is used when we want to know the Genotype of an unknown flower?(a) Incomplete Dominance(b) Dihybrid Experiments(c) Monohybrid Experiments(d) Test cross
›Reveal solutionSolution
A test cross - mating an individual of unknown genotype with a homozygous recessive individual - reveals the unknown genotype from the phenotypic ratio of offspring.
If a plant shows the dominant phenotype, its genotype could be either homozygous dominant or heterozygous - the phenotype alone cannot distinguish these. To resolve this, Mendel devised the test cross: crossing the unknown plant with a homozygous recessive plant. If all offspring show the dominant phenotype, the unknown parent was homozygous dominant; if offspring show a 1:1 ratio of dominant:rec …
- GUJCET 2024Set 101 markMCQQ.On which chromosome of each parent gene controlling β-thalassemia is located? (A) 11th (B) 21st (C) 16th (D) 14th
›Reveal solutionSolution
β-globin gene (β-thalassaemia) → chromosome 11.
β-thalassaemia results from mutation of the β-globin gene, which is located on chromosome 11. (α-thalassaemia involve …
- GSEB Higher Secondary Certificate (HSC) Examination 2024Set ANNUAL1 markMCQQ.What is represented by following cross? Tt x tt(a) Test cross(b) Dihybrid cross(c) Co-dominance(d) Incomplete dominance
›Reveal solutionSolution
A test cross crosses an individual of unknown genotype (but known dominant phenotype) with a homozygous recessive individual, to reveal whether the unknown parent is homozygous or heterozygous from the ratio of offspring phenotypes.
In Tt x tt, the tt parent can only contribute a recessive 't' gamete, so the offspring phenotypes directly reveal which gametes the Tt parent produced: half the offspring will be Tt (showing the dominant phenotype) and half tt (showing the recessive phenotype), a 1:1 ratio that confirms the tested parent is indeed heterozygous (Tt) rather than homozygous dominant (which would have given all dominant-phenotype offspring …
- GUJCET 2023Set 071 markMCQQ.'Sex-determination' in Humans is identified by: (A) Somatic cell → autosomes (B) Germ cell → sex chromosome (C) Germ cell → autosomes (D) Somatic cell → sex chromosomes
›Reveal solutionSolution
In humans the male is heterogametic; sex is decided by whether the fertilising germ cell (sperm) carries the X or Y sex chromosome.
Concept. Sex determination is governed by the sex chromosomes (not autosomes), and the deciding event is fertilisation by a particular type of germ cell: an X-bearing sperm gives a female (XX), a Y-bearing sperm gives a male (XY). …
- GUJCET 2023Set 071 markMCQQ.In Turner's Syndrome, during cell division, which type of Aneuploidy is seen? (A) (2n+2) (B) (2n−1) (C) (2n+1) (D) (2n−2)
›Reveal solutionSolution
Turner's Syndrome (45,X) is a monosomy: one chromosome fewer than the diploid number, i.e. (2n−1).
Concept — aneuploidy. Aneuploidy is the gain or loss of one or a few chromosomes from the normal diploid set, arising from non-disjunction during meiosis. Adding one chromosome gives trisomy (2n+1); losing one gives monosomy (2n−1). …
- GSEB Higher Secondary Certificate (HSC) Examination 2023Set ANNUAL1 markMCQQ.Which one following is not a mendelian disorders?(a) Sickle - Cell anaemia(b) Ascariasis(c) Phenyl Ketonuria(d) Cystic Fibrosis
›Reveal solutionSolution
Sickle-cell anaemia, phenylketonuria and cystic fibrosis are single-gene (Mendelian) disorders; Ascariasis is a parasitic worm infection, not genetic.
Mendelian disorders are caused by alteration/mutation in a single gene and follow Mendelian inheritance - e.g. sickle-cell anaemia, phenylketonuria, cystic fibrosis, thalassemia, haemophilia, colour blindness.
…
- GUJCET 2022Set 171 markMCQQ.Absence of teeth, bifid tongue and mental retardness are observed in __________. (A) Down's syndrome (B) Albinism (C) Klinefelter's syndrome (D) Oral-facial-digital syndrome
›Reveal solutionSolution
This triad is diagnostic of Oral-facial-digital syndrome.
Concept. Oral-facial-digital (OFD) syndrome affects the mouth, face and digits — features include a bifid/lobed tongue, missing teeth, cleft palate and mental retardation. Down's (trisomy 21), albinism (pi …
- GUJCET 2021Set 151 markMCQQ.Linked genes HBA1 and HBA2 are located on which pair of chromosomes? (A) 11 (B) 14 (C) 22 (D) 16
›Reveal solutionSolution
HBA1 and HBA2 (alpha-globin genes) lie on chromosome 16.
Concept: The two alpha-globin genes, HBA1 and HBA2, are closely linked on the …
- GSEB Higher Secondary Certificate (HSC) Examination 2020Set ANNUAL1 markMCQQ.Expression of only one of the parental characters in the F1 and expression of both in the F2, can be explained by(a) Punnett square(b) Law of segregation(c) Law of Dominance(d) Multiple alleles
›Reveal solutionSolution
Mendel's Law of Dominance explains why only one parental trait appears in the F1 generation (the dominant trait masks the recessive one) while both traits reappear in a 3:1 ratio in the F2 generation.
When Mendel crossed true-breeding tall and dwarf pea plants, all F1 plants were tall — only one of the two parental traits (tallness) was expressed, while the other (dwarfness) was suppressed but not lost, since it reappeared in the F2 generation in a 3:1 (tall:dwarf) ratio. This is explained by the Law of Dominance: of a pair of contrasting factors (alleles), one (dominant) expresses itself in the heterozygous state while the other (recessive) is suppressed but remains present and can reappea …
- GSEB Higher Secondary Certificate (HSC) Examination 2018Set ANNUAL1 markMCQQ.If father Dr. Hansraj blood group is 'A' and mother Komalben blood group is 'B'? What will be the blood group of their son Gajendra?(a) A or B only(b) AB only(c) A or B or AB only(d) O or A or B or AB
›Reveal solutionSolution
If the A parent is IA i and the B parent is IB i, their children can be of any of the four ABO groups.
ABO alleles: IA and IB are codominant, i is recessive.
- Father (A) can be IA IA or IA i.
- Mother (B) can be IB IB or IB i.
Take the heterozygous case IA i x IB i: …
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