Question

Which one of the following is an autosomal recessive disorder?

• A. Albinism
• B. Huntington’s syndrome
• C. Marfan’s syndrome
• D. Neurofibromatosis-1

Answer 1

The Correct Option is A

Albinism is an autosomal recessive disorder. This means that a person must inherit two copies of the nonfunctional gene, one from each parent, to manifest the condition. In autosomal recessive disorders, individuals with one normal allele and one defective allele are carriers, and they do not show symptoms of the disorder.

Here's a brief comparison to clarify:

Disorder	Inheritance Pattern
Albinism	Autosomal Recessive
Huntington’s Syndrome	Autosomal Dominant
Marfan’s Syndrome	Autosomal Dominant
Neurofibromatosis-1	Autosomal Dominant

Albinism results from the lack of melanin production due to enzyme deficiencies involving the biosynthesis pathway of melanin. The clinical manifestations of albinism include ocular problems, such as nystagmus and photophobia, along with visual anomalies, all deriving from the lack of pigmentation affecting eye development.