Seven members in the same generation of a family have a gene mutation, but only one...
- Seven members in the same generation of a family have a gene mutation, but only one of the seven has the classical disease phenotype associated with this mutation. What term would you use to describe this genetic lesion?
- High penetrance
- Dominant
- Low penetrance
Homework Answers
Answer-
The term to be used to describe this genetic lesion is low penetrance.
Gene penetrance is the degree of expression of gene at population level. It is the frequency with which a genotype is expressed in phenotype. For example, out of seven individuals with a gene mutation, only one is showing the expected phenotype. So, the penetrance of this particular mutated gene is 1/7 = 0.143 or 14.3%
Penetrance can be of two types:
A) Complete penetrance (high)- In this case, mutated gene expresses itself in all individuals in which it is present.
B) Incomplete penetrance (low)- in this case some individuals fail to show a particular trait, even though the controlling gene for that trait is present.
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