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  4. Sickle-cell anaemia is caused by a substitution mutation. At the sixth position of haemoglobin, due to this mutation

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Q. Sickle-cell anaemia is caused by a substitution mutation. At the sixth position of haemoglobin, _____ due to this mutation

NTA AbhyasNTA Abhyas 2022

Solution:

Sickle cell anemia is an autosomal linked recessive trait disorder. It is controlled by a single allele - $H b^{s}$ . The defect arises as the amino acid valine (neutral amino acid) replaces the normal chain amino acid glutamic acid (acidic amino acid) at the 6th position of the hemoglobin's beta chain. This change takes place due to the single base substitution of the sixth codon for beta-globin gene.