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A member asked:
With phenylketonuria, how many people are expected to be heterozygota "carriers" for the disease?
A doctor has provided 1 answer
1:50 have one of : the many mutations of the PAH gene on Chromosome 12 that cause classical PKU. The prevalence of PKU is 1:10,000. PKU occurs when a child inherits a mutant PAH gene from both parents, in which case each subsequent child of theirs has a 25% chance of having PKU. See http://www.geneticseducation.nhs.uk/genetic-conditions-54/277-phenylketonuriapku
Answered 10/30/2014
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