Select the correct statements about sickle cell anaemia. [2023]
(A) There is a change in gene for beta globin.
(B) In the beta globin, there is valine in the place of lysine.
(C) It is an example of point mutation.
(D) In the normal gene U is replaced by (A)
Choose the correct answer from the options given below.
(4)
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. Thus, it is an example of point mutation.