Question

Cationic trypsinogen is an enzyme made in the pancreas that helps to digest food. It is encoded for by the PRSS1 gene. Individuals with a disorder called hereditary pancreatitis have mutations in the PRSS1gene, which result in inflammation of the pancreas, possibly leading to permanent tissue damage. The disorder is inherited in an autosomal dominant fashion. Imagine that you are part of a research team interested in determining the penetrance of a different PRSS1 mutation, Ala16Val. Your team has identified 120 individuals with the PRSS1 Ala16Valallele and found that 48 of the individuals did not display any evidence of pancreatitis. From your data, what is the penetrance of the PRSS1 Ala16Valmutation? Enter you a nswer as a whole number in the blank provided

Answer 1

Answer:

60%

Explanation:

Penetrance in genetics is defined as a proportion of individuals that carry a certain gene (mutation of the gene) with the expressed phenotype (trait). In the example above we wanted to know  the penetrance of the PRSS1 Ala16Val mutation. Form 120 individuals, 72 of them expressed some evidence of pancreatitis (120-48). The proportion of them with the expressed trait can be calculated as 72:120=0.6 or 60%.