Question

Match the following

Column Ⅰ	Column Ⅱ
(a) Phenylketonuria	1. Substitution of valine for glutamic acid
(b) Sickle cell anemia	2. Dysfunctional chloride channel
(c) Kartagener’s syndrome	3. Accumulation of an amino acid
(d) Cystic fibrosis	4. Situs Inversus

Choose the correct option:

• A. a-3, b-1, c-4, d-2
• B. a-2, b-1, c-4, d-3
• C. a-3, b-4, c-1, d-2
• D. a-4, b-3, c-2, d-1

Answer 1

The correct option is A a-3, b-1, c-4, d-2

Phenylketonuria is an autosomal recessive disorder, where homozygous recessive individuals lack an enzyme called phenylalanine hydroxylase which converts phenylalanine to tyrosine in the liver. The absence of this enzyme leads to the accumulation of phenylalanine, an amino acid, in the body causing skin pigmentation, mental retardation, and loss of hair.

In sickle cell anemia, 𝛃- chain of hemoglobin gets mutated at the 6th position (substituting valine for glutamic acid) which distorts the R.B.C structure.

Kartagener’s syndrome is an autosomal recessive trait characterized by situs inversus (lateral disposition of viscera) and lack of dynein protein in all ciliated and flagellated cells.

Cystic fibrosis is an autosomal recessive disorder where chloride ion channels dysfunctional leading to thick mucus production which plugs the tubes and tracts in the body.

The correct match is a-3, b-1, c-4, d-2.