NEETZoologyPrinciples of Inheritance and Variation
A couple, both of whom are carriers for the sickle-cell trait, wish to know the risk of their future child being affected by the disease. What is the percentage probability that their child will be affected, and what is the exact molecular defect the affected child will possess?
Options
- A25%, substitution of Glutamic acid by Valine in the beta-globin chain
- B50%, substitution of Glutamic acid by Valine in the beta-globin chain
- C25%, substitution of Valine by Glutamic acid in the beta-globin chain
- D25%, reduced synthesis of the beta-globin chain
Correct answer
A. 25%, substitution of Glutamic acid by Valine in the beta-globin chain
Step-by-step solution
Sickle-cell anaemia is an autosomal recessive genetic disorder. If both parents are carriers (heterozygous, Hb^A Hb^S ), the genetic cross is Hb^A Hb^S Hb^A Hb^S . The possible offspring genotypes are Hb^A Hb^A (25% normal), Hb^A Hb^S (50% carriers), and Hb^S Hb^S (25% affected). Thus, the probability of having an affected child is 25%. The molecular defect in an affected individual ( Hb^S Hb^S ) is the substitution of Glutamic acid (Glu) by Valine (Val) at the sixth position of the beta-globin chain of the haemogl