Solution
Related Formula
Sickle Cell Anaemia: Single point mutation at 6th codon of β-globin gene (GAG arrow GUG), replacing Glutamic acid (Glu) with Valine (Val).
Core Logic
Sickle-cell anaemia is an autosomal recessive genetic defect caused by point mutation resulting in Glu arrow Val substitution at 6th position of β-globin polypeptide chain, leading to RBC polymerisation under low oxygen tension.
Step 1: Conclusion
The disorder is Sickle-cell anaemia. Option (3) is correct.
Pattern Recognition
Glu to Val at 6th position of β-globin = Sickle-cell anaemia.
Chapter Mix
Class 12 Biology: Principles of Inheritance and Variation