Question:
Which of the following is an autosomal recessive disorder?
Which of the following is an autosomal recessive disorder?
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PKU is an "Autosomal" error in metabolism, while Haemophilia is "Sex-linked".
Updated On: May 5, 2026
- Haemophilia
- Turner syndrome
- Phenylketonuria (PKU)
- Down syndrome
Show Solution
Verified By Collegedunia
The Correct Option is C
Solution and Explanation
Step 1: Concept
Autosomal recessive disorders occur when an individual inherits two copies of a mutated gene located on a non-sex chromosome (autosome).
Step 2: Meaning
This means both parents must be carriers for a child to manifest the disease.
Step 3: Analysis
Haemophilia is an X-linked recessive disorder. Turner syndrome (XO) and Down syndrome (Trisomy 21) are chromosomal abnormalities caused by non-disjunction. Phenylketonuria is a Mendelian disorder caused by a mutation in the PAH gene on chromosome 12.
Step 4: Conclusion
Because the PAH gene is on an autosome and requires two recessive alleles to show the phenotype, PKU fits the definition. Final Answer: (C)
Autosomal recessive disorders occur when an individual inherits two copies of a mutated gene located on a non-sex chromosome (autosome).
Step 2: Meaning
This means both parents must be carriers for a child to manifest the disease.
Step 3: Analysis
Haemophilia is an X-linked recessive disorder. Turner syndrome (XO) and Down syndrome (Trisomy 21) are chromosomal abnormalities caused by non-disjunction. Phenylketonuria is a Mendelian disorder caused by a mutation in the PAH gene on chromosome 12.
Step 4: Conclusion
Because the PAH gene is on an autosome and requires two recessive alleles to show the phenotype, PKU fits the definition. Final Answer: (C)
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