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Solution


Q.

In which disorder change of single base pair in the gene for beta globin chain results in change of glutamic acid to valine              [2023]
1 Thalassemia  
2 Sickle cell anemia  
3 Haemophilia  
4 Phenylketonuria  

Ans.

(2)

Sickle cell anemia is caused by the substitution of Glutamic acid (Glu) by Valine (Val) at the sixth position of the beta globin chain of the haemoglobin molecule. The substitution of amino acid in the globin protein results due to the single base substitution at the sixth codon of the beta globin gene from GAG to GUG.