Question

What is the inheritance pattern for familial hypercholesterolemia caused by a defect in the gene for the LDL receptor?

A Autosomal dominant
B Autosomal recessive
C X-linked dominant
D Complex trait
E None of the above

Answer 1

Familial hypercholesterolemia is inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene can cause the condition.

Step-by-step explanation:

The inheritance pattern for familial hypercholesterolemia, which is caused by a defect in the gene for the LDL receptor, is autosomal dominant. This means that individuals only need to inherit one copy of the mutated gene from one of their parents to express the condition. Familial hypercholesterolemia is characterized by high levels of LDL cholesterol in the blood, which can lead to premature cardiovascular disease. This disorder is notable because people with only one copy of the gene (heterozygotes) can express symptoms, though the severity is typically less than in those with two copies (homozygotes).