Q159 / 180 · AIIMS 2013 · Zoology

Assertion : Only a boy child could be born with a substitution of glutamic acid by valine on $6^{\text {th }}$ codon of beta-chain of haemoglobin. Reason : The gene for the above mutation is found on Y-chromosome.

  • A
    If both assertion and reason are true and reason is the correct explanation of assertion.
  • B
    If both assertion and reason are true but reason is not the correct explanation of assertion.
  • C
    If assertion is true but reason is false
  • Correct answer
    D
    If both assertion and reason are false

Solution

Sickle cell anaemia is an autosomal recessive hereditary disorder in which the erythrocytes become sickle-shaped under oxygen deficiency as during strenuous exercise and at high altitudes. The disorder or disease is caused by the formation of an abnormal haemoglobin called haemoglobin-S. As found out by Ingram (1958), haemoglobin-S differs from normal haemoglobin-A in only one amino acid $-6^{\text {th }}$ amino acid of $\beta$-chain, glutamic acid, is replaced by valine due to substitution (transversion) of $\mathrm{T}$ by A in the second position of the triplet codon (CTC) which is changed to CAC in the $\beta$-haemoglobin gene situated on chromosome 11.

Hence, the correct answer is option: 'D'.

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