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NCERT Exemplar · Q23

Q.The pedigree chart given below shows a particular trait which is absent in parents but present in the next generation irrespective of sexes. Draw your conclusion on the basis of the pedigree.

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The trait is autosomal recessive — it skips the carrier parents and appears equally in sons and daughters of the next generation.

When a trait vanishes in one generation only to reappear in the next, we are watching the signature behaviour of a recessive allele at work. The pedigree you are examining shows parents who do not express the trait themselves but produce children — both male and female — who do. This pattern immediately tells us two things: the parents must be carriers (heterozygous), and the trait cannot be sex-linked because it appears without any bias toward one sex.

Recessive traits require two copies of the mutant allele to be expressed. If both parents are heterozygous carriers (genotype Aa, where a is the recessive allele), they appear normal because the dominant allele A masks the recessive one. However, when they reproduce, each child has a one-in-four chance of inheriting aa — the homozygous recessive genotype — and thus expressing the trait. Roughly a quarter of their offspring will show the trait, half will be carriers like the parents, and a quarter will be homozygous dominant.

The fact that the trait appears in both sexes equally is the clincher. Sex-linked traits, particularly X-linked recessive ones, show a strong male bias because males need only one copy of the recessive allele on their single X chromosome to express the trait. Females, with two X chromosomes, would need two copies. Here, sons and daughters are affected in similar proportions, ruling out X-linkage. …

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