Club foot is one of the most common congenital skeletal abnormalities, with a worldwide incidence of...
Club foot is one of the most common congenital skeletal abnormalities, with a worldwide incidence of about 1 in 1000 births. Both genetics and nongentic factors are thought to be responsible for club foot. A research group identified a family in which club foot was inherited as an autosomal dominant trait with reduced penetrance. They discovered a mutation in the PITX1 gene that caused club foot in this family. Through DNA testing, they determined that 11 people in the family carried the PITX1 mutation, but only 8 of these people had club foot. What is the penetrance of PITX1 mutation in this family?
Homework Answers
Penetrance refers to the degree of expression of a gene by the carriers of that gene. It can be calculated as :
Penetrance = (Number of individuals showing the trait) / total number of carriers for the trait
= (8) /(11)
=0.7272
Hence, penetrance of PITX1 mutation in this family is 0. 7272 or 72.27%.
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