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Q.Study the given pedigree chart and answer the questions that follow.

(a) Is the trait given in the chart dominant or recessive ? Give reason in support of your answer.
(b) Is this trait autosomal or sex-linked ? Give reason in support of your answer.
(c) Write the possible genotypes of the children numbers '1' and '3' of the second generation.
CBSECBSE Class XII Board 2023Subjective· 3mImportance★★★★★
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The trait is recessive because unaffected parents have an affected child. It is autosomal because an affected female has an unaffected father, ruling out X-linked recessive inheritance. The possible genotypes for children II-1 and II-3 are AA or Aa.

Understanding how to interpret pedigree charts is fundamental in genetics. The core idea is to look for specific patterns of inheritance that distinguish between dominant and recessive traits, and between autosomal and sex-linked traits. We use the presence or absence of the trait in parents and offspring, and its distribution across sexes, to deduce the mode of inheritance.

  1. Analyze for Dominant vs. Recessive Inheritance (Part a)

    • Concept:
      • A dominant trait typically appears in every generation, and affected individuals always have at least one affected parent. It does not "skip" generations.
      • A recessive trait can skip generations. A key indicator of a recessive trait is when two unaffected parents have an affected child. This is because the parents must both be carriers of the recessive allele without expressing the trait themselves.
    • Application to the pedigree:
      • Observe individuals I-1 and I-2. Both are unaffected (represented by clear shapes).
      • They have an affected child, II-2 (represented by a shaded shape).
      • Since two unaffected parents have an affected offspring, the trait must be recessive. If it were dominant, at least one parent would have to be affected to pass on the dominant allele.
    Watch out

    A common mistake is to assume a trait is dominant just because it appears in multiple generations. Always look for the "unaffected parents, affected child" pattern to confirm recessiveness.

  2. Analyze for Autosomal vs. Sex-linked Inheritance (Part b)

    • Concept:
      • Autosomal traits affect males and females roughly equally and are inherited independently of sex chromosomes.
      • Sex-linked traits (most commonly X-linked) show different patterns in males and females due to the presence of only one X chromosome in males (XY) and two in females (XX).
        • For an X-linked recessive trait:
          • Affected females (XᵃXᵃ) must have an affected father (XᵃY) and at least a carrier mother (XᴬXᵃ or XᵃXᵃ).
          • Affected males (XᵃY) inherit the trait from their mother.
          • It is generally more common in males than females.
    • Application to the pedigree:
      • We have already established that the trait is recessive. Now we need to determine if it's autosomal recessive or X-linked recessive.
      • Look at the affected female, II-2. For her to be affected by an X-linked recessive trait, her genotype would be XᵃXᵃ.
      • This means she must have inherited one Xᵃ allele from her mother (I-2) and one Xᵃ allele from her father (I-1).
      • If her father (I-1) contributed an Xᵃ allele, his genotype would be XᵃY, meaning he would be affected.
      • However, individual I-1 is shown as unaffected in the pedigree.
      • This contradiction rules out X-linked recessive inheritance. Therefore, the trait must be autosomal.
  3. Determine Possible Genotypes (Part c)

    • Concept: …

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