A child inherits two different mutant alleles of the same gene, one from each parent, resulting in disease expression. What is this called?
Show answer and explanation
Correct answer: Compound heterozygosity
Compound heterozygosity occurs when two different pathogenic alleles of the same gene cause disease. This is common in recessive disorders. It is distinct from homozygosity for a single mutation.
Keep practicing
More Mendelian inheritance questions
- A woman affected by an autosomal dominant condition has a child with an unaffected man. What is the probability that their child will be un…
- A pedigree shows only males affected, with no male-to-male transmission. This most likely represents:
- A mother with an X-linked dominant disorder has a child with an unaffected partner. What proportion of daughters will be affected?
- A disease shows increasing severity and earlier onset in successive generations. Which genetic concept explains this pattern?
- A healthy couple has a child with an autosomal recessive metabolic disorder. Neither parent is affected. What is the probability that their…
- If a father has an X-linked recessive disorder, which of his children are guaranteed to inherit the mutant allele?