Statement I : Sickle-cell anaemia is caused by the substitution of Glutamic acid (Glu) by Valine (Val) at the sixth position of the beta globin chain.
Statement II :The mutant haemoglobin molecule undergoes polymerisation causing the change in the shape of the RBC from biconcave disc to elongated sickle like structure .
Answer & explanation
Correct answer: option 3
The correct answer is Option (3) – Both statement I and statement II are correct .
Sickle-cell anaemia : This is an autosome linked recessive trait that can be transmitted from parents to the offspring when both the partners are carrier for the gene (or heterozygous).
Sickle-cell anaemia 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. The mutant haemoglobin molecule undergoes polymerisation under low oxygen tension causing the change in the shape of the RBC from biconcave disc to elongated sickle like structure .