Clubfoot is a congenital skeletal abnormality with a worldwide incidence of abou

Question

Clubfoot is a congenital skeletal abnormality with a worldwide incidence of about 1 in 1,000 births. Both genetic and non-genetic factors cause clubfoot. C. A. Gurnet et al. (2008. American Journal of Human Genetics 83:616-622) identified a family in which clubfoot was inherited as an autosomal dominant trait with reduced penetrance. They discovered a mutation in the PITXI gene that caused clubfoot in this family. Through DNA testing, they le in the family carried the Pr people had clubfoot. What is the penetrance of PITXT mutation in this family?

Explanation / Answer

Penetrance is the percentage of individuals carries a gene and also shows its trait.

Now in the family 11 people carried the mutation but only 8 of these individuals showed the trait. So the penetrance will be

Penetrance= 8/11X100

=72.7%

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