autosomal_dominant_flashcards
What is an autosomal dominant disease?
A disease where both homozygotes and heterozygotes manifest the disease, with no carrier state.
Do homozygotes and heterozygotes manifest the disease in autosomal dominant conditions?
Yes, both homozygotes and heterozygotes manifest the disease.
Are both males and females affected by autosomal dominant diseases?
Yes, both males and females are affected.
Who can pass on an autosomal dominant disease?
Only affected individuals can pass on the disease.
What is the likelihood of passing an autosomal dominant disease to children?
50%.
How often do autosomal dominant diseases appear in generations?
Normally in every generation, but there are exceptions.
What is non-penetrance in the context of autosomal dominant diseases?
Lack of clinical signs and symptoms despite having the abnormal gene.
What is a spontaneous mutation in autosomal dominant diseases?
A new mutation in one of the gametes.
Give an example of a condition with non-penetrance.
40% otosclerosis.
What percentage of individuals with achondroplasia have unaffected parents?
80%.
