Which one of the following is an autosomal dominant disorder –
First, the core concept is understanding inheritance patterns. Autosomal dominant means only one copy of the mutated gene is needed for the disorder to manifest. Affected individuals have a 50% chance of passing it to their offspring.
Now, the correct answer is likely Huntington's disease. It's a classic example. The mutation is in the HTT gene, leading to a CAG trinucleotide repeat expansion. The protein becomes toxic, causing neurodegeneration. Symptoms start in adulthood, which is why it's a common exam question.
The other options could be like cystic fibrosis (autosomal recessive), hemophilia (X-linked recessive), or Down syndrome (trisomy 21, not a single-gene disorder). Each of these has different inheritance patterns. Need to explain why each is incorrect.
Clinical pearl: Remember that autosomal dominant disorders often show vertical transmission in families, and affected individuals have one affected parent. Huntington's and Marfan are high-yield for exams.
Make sure to structure the explanation with the required sections, check character count, and avoid markdown. Keep explanations concise but thorough enough for medical students.
**Core Concept**
Autosomal dominant disorders require only one copy of a mutated gene to manifest, with 50% chance of transmission from an affected parent. These conditions typically show vertical transmission in family histories and are not sex-linked.
**Why the Correct Answer is Right**
Huntington’s disease is an autosomal dominant neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the *HTT* gene. This leads to mutant huntingtin protein accumulation, causing progressive striatal and cortical degeneration. It presents with chorea, cognitive decline, and psychiatric symptoms, usually after age 30, avoiding prenatal testing due to ethical concerns.
**Why Each Wrong Option is Incorrect**
**Option A:** Cystic fibrosis is autosomal recessive, requiring two defective *CFTR* alleles.
**Option B:** Hemophilia A is X-linked recessive, predominantly affecting males.
**Option C:** Down syndrome is a chromosomal trisomy (trisomy 21), not a single-gene autosomal dominant disorder.
**Clinical Pearl / High-Yield Fact**
**"Huntingtin for hunting, Marfan for tall and thin."** Huntington’s disease and Marfan syndrome are high-yield autosomal dominant disorders. Remember that adult-onset autosomal dominant diseases (e.g., Huntington’s) often lack symptoms in childhood, making genetic counseling complex.
**Correct Answer: D. Huntington’s disease**