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Q.What is sex-linked inheritance? Discuss the mechanism with reference to haemophilia.

Odisha ChseOdisha CHSE +2 Science Board Exam 2023Subjective· 7mImportance★★★★★
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Sex-linked inheritance refers to genes carried on the sex chromosomes (mostly the X chromosome); haemophilia is a classic X-linked recessive disorder in which affected sons inherit the defective X from a carrier mother, showing the characteristic criss-cross pattern of transmission.

Sex-linked inheritance refers to the pattern of inheritance of genes located on the sex chromosomes (X or Y), as opposed to genes on autosomes. Because males (XY) have only one X chromosome and females (XX) have two, X-linked genes show a distinctive inheritance pattern:

  • A male has only a single copy of any X-linked gene, so he is said to be hemizygous for that gene - a single recessive allele on his one X chromosome will always be expressed (there is no second X allele to mask it).
  • A female needs two copies of a recessive X-linked allele (homozygous) to show the recessive trait; a female with just one copy is a phenotypically normal carrier.
  • This produces a characteristic 'criss-cross' pattern of inheritance, in which a trait tends to pass from an affected/carrier mother to her sons, and a father transmits his X-linked genes only to his daughters (never to sons, since sons receive his Y chromosome).

Haemophilia is a well-known X-linked recessive disorder (also called the 'royal disease', historically traced through European royal families) in which blood fails to clot normally due to a deficiency of a clotting factor (Factor VIII or IX), so even a minor cut can cause prolonged, life-threatening bleeding.

Mechanism of transmission:

  • Let XHX^H = normal (dominant) allele and XhX^h = haemophilic (recessive) allele.
  • A carrier mother (XHXhX^H X^h, phenotypically normal but heterozygous) crossed with a normal father (XHYX^H Y) produces:
    • Daughters: XHXHX^H X^H (normal) and XHXhX^H X^h (carrier, normal phenotype) - in equal proportion; no daughter is affected. …

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