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Question

Draw pedigrees for autosomal recessive and sex-linked inheritance using examples from human.

This question was previously asked in
UPSC CSE 2025 (Prelims) CSAT Official Paper (25-May-2025)

Autosomal Recessive Inheritance

Autosomal recessive traits appear only when an individual inherits two copies of the recessive allele, one from each parent. Individuals with a single copy are carriers and typically show no symptoms.

Example Pedigree:

  • Generation I: Parents I-1 and I-2 are carriers (Aa), phenotypically normal.
     
  • Generation II: Offspring II-2 is affected (aa), while II-1, II-3, and II-4 are unaffected; II-4 is a carrier.
     
  • Generation III: II-4 mates with an unaffected individual; their child III-1 is affected, indicating the partner must be a carrier.
     

Key Features:

  • Affected offspring can arise from unaffected parents.
     
  • The trait may skip generations.
     
  • Both sexes are equally affected.
     

X-Linked Recessive Inheritance

X-linked recessive traits are determined by genes on the X chromosome. Males, having only one X chromosome, are more frequently affected.

Example Pedigree:

  • Generation I: Female I-4 is a carrier.
     
  • Generation II: Her son II-3 is affected; daughter II-2 is a carrier.
     
  • Generation III: II-2’s son III-3 is affected.
     

Key Features:

  • More common in males.
     
  • Affected sons often have unaffected carrier mothers.
     
  • Traits can skip generations through females.
     
  • Fathers never pass X-linked traits to sons, only to daughters.
     

These inheritance patterns help predict disease risk and are crucial in genetic counseling, allowing families to understand and manage the transmission of hereditary conditions.

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