Principle of Inheritance and VariationMediumBloom L1

Question

Pick out the correct statements: [NEET 2016]

1). Haemophilia is a sex-linked recessive disease

2). Down's syndrome is due to aneuploidy

3). Phenylketonuria is an autosomal recessive gene disorder.

4). Sickle cell anaemia is a X-linked recessive gene disorder

Options

A.1) and 4) are correct
B.2) and 4) are correct
C.1), 3) and 4) are correct
D.1), 2) and 3) are correct

Solution

Sol.(d) [Key Concept: Genetic Disorders — Correct Statements] Correct statements are 1, 2, and 3: (1) TRUE — Haemophilia IS sex-linked (X-linked) recessive; (2) TRUE — Down's syndrome IS due to aneuploidy (trisomy 21, 2n+1); (3) TRUE — Phenylketonuria (PKU) IS autosomal recessive (PAH gene on chromosome 12). Statement (4) is FALSE — Sickle cell anaemia is AUTOSOMAL recessive (HBB gene on chromosome 11), NOT X-linked. Both males and females are equally affected by sickle cell anaemia. Answer: (1), (2), and (3) = option (d).

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