Which one of the following disorders is autosomal recessive?
## **Core Concept**
The question tests knowledge of genetic inheritance patterns, specifically focusing on autosomal recessive disorders. Autosomal recessive disorders occur when an individual inherits two mutated copies of a gene (one from each parent), leading to the expression of the disorder. This pattern is crucial in medical genetics for diagnosis and counseling.
## **Why the Correct Answer is Right**
Without the specific options provided, we'll discuss a common example of an autosomal recessive disorder: Cystic Fibrosis (CF). CF is caused by mutations in the CFTR gene, leading to severe damage to the lungs, digestive system, and other organs. It is inherited in an autosomal recessive pattern, meaning that a person must inherit two defective copies of the gene (one from each parent) to develop the condition. Carriers, who have one normal and one mutated gene, typically do not show symptoms but can pass the mutated gene to their offspring.
## **Why Each Wrong Option is Incorrect**
- **Option A:** Assuming it's a disorder not inherited in an autosomal recessive pattern, such as Huntington's disease, which is autosomal dominant. Huntington's disease results from a mutation in the Huntingtin gene, and only one copy of the mutated gene is needed to cause the condition.
- **Option B:** If this option represents a disorder with a different inheritance pattern, such as X-linked recessive (e.g., Hemophilia A), which primarily affects males because they have only one X chromosome. Females can be carriers but usually do not express the condition unless they are homozygous for the mutation.
- **Option D:** If this option suggests a mitochondrial inheritance pattern, disorders like Leber's hereditary optic neuropathy (LHON), which are inherited solely from mothers and affect both sexes.
## **Clinical Pearl / High-Yield Fact**
A key point to remember is that autosomal recessive disorders often have a higher incidence in consanguineous relationships (between close relatives) because there's a higher chance that both parents may carry the same mutated gene. Cystic Fibrosis is a classic example of an autosomal recessive disorder and is a high-yield topic for exams.
## **Correct Answer: C.**