23 Jul WHAT IS THE PROBABILITY THAT THEIR OFFSPRING WILL HAVE HEREDITARY PANCREATITIS?
Cationic trypsinogen is an enzyme made in the pancreas that helps to digest food. It is encoded for Show more 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 PRSS1 gene which result in inflammation of the pancreas possibly leading to permanent tissue damage. The disorder is inherited in an autosomal dominant fashion. Studies of large human populations have determined that the penetrance of a particular PRSS1mutation Arg122His is 86%. Imagine that you are part of a research team interested in determining the penetrance of a differentPRSS1 mutation Ala16Val. Your team has identified 120 individuals with the PRSS1 Ala16Val allele and found that 48 of the individuals did not display any evidence of pancreatitis. From your data the penetrance of the PRSS1 Ala16Val is 60% If a man who is heterozygous for a PRSS1 Ala16Val mutation mates with a woman who is homozygous for normal cationic trypsinogen What is the probability that their offspring will have hereditary pancreatitis? Show less
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