Which one of the following is not the autosome-linked recessive Mendelian disorder?
Answer & explanation
Correct answer: option 2
The correct answer is Option (2) → Haemophilia
Option (1) Sickle-cell anaemia — An autosome-linked recessive disorder. The disease shows only in the homozygous HbSHbS state.
Option (2) Haemophilia — Not an autosome-linked recessive disorder. Its gene lies on the X chromosome, so it is a sex-linked recessive disease, seen far more often in males.
Option (3) Phenylketonuria — An autosome-linked recessive disorder. An inborn error of metabolism in which the enzyme that converts phenylalanine into tyrosine is missing.
Option (4) Thalassemia — An autosome-linked recessive disorder. It is a blood disease passed on when both parents are unaffected carriers.
NCERT Extract:
Mendelian Disorders – “… Haemophilia : This 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.”
Mendelian Disorders – “… 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).”
Mendelian Disorders – “Phenylketonuria : This inborn error of metabolism is also inherited as the autosomal recessive trait.”
Mendelian Disorders – “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).”