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.
- AIf both assertion and reason are true and reason is the correct explanation of assertion.
- BIf both assertion and reason are true but reason is not the correct explanation of assertion.
- CIf assertion is true but reason is false
- Correct answerDIf 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'.