Which of the following are autosomal recessive trait/ disorder? (A) Thalassemia Choose the correct answer from the options given below: |
(A), (B) and (D) only (A), (C) and (D) only (A), (B), (C) and (D) (B), (C) and (D) only |
(A), (C) and (D) only |
The correct answer is Option (2) → (A), (C) and (D) only Haemophilia is a sex linked recessive disease, which shows its transmission from unaffected carrier female to some of the male progeny has been widely studied. In this disease, a single protein that is a part of the cascade of proteins involved in the clotting of blood is affected. Due to this, in an affected individual a simple cut will result in non-stop bleeding. 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). The disease is controlled by a single pair of allele, HbA and HbS. Phenylketonuria is an inborn error of metabolism is inherited as an autosomal recessive trait. The affected individual lacks an enzyme that converts the amino acid phenylalanine into tyrosine. Thalassemia : This is also an autosome-linked recessive blood disease transmitted from parents to the offspring when both the partners are unaffected carrier for the gene (or heterozygous). The defect could be due to either mutation or deletion which ultimately results in reduced rate of synthesis of one of the globin chains (α and β chains) that make up haemoglobin. |