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LF205 L1-4

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Question:

Penetrance of a mutation

Author: Alex Rapai



Answer:

The percentage of individuals with an allele who possess a disease/trait. Most single gene diseases discussed above have high penetrance – 100%. Environment also influences risk. Risk - not 100% penetrant - if you have a risk allele it doesn’t mean you will get the disease. Alleles have a high frequency in the population. The overall risk is heritable but not in a Mendelian manner.


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