Examples of penetrance

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The author explains the genetics of ' complex illnesses ', involving multiple genes, as well as variable penetrance and variable expressivity.
It is extremely difficult to distinguish between expectations on a hypothesis due to autosomal dominance with low penetrance and one invoking multifactorial predisposition.
We derived the non-centrality parameters in a very general genetic model, in which the penetrance of each of the three genotypes is defined.
In the latter case, sporadic autism is possibly caused by a spontaneous mutation with high penetrance in males and poor penetrance in females.
Familial occurrence is widely recognized as an autosomal dominant trait with incomplete penetrance and variable expression.
Ignoring the mixture distribution of the unobserved genotype, they were able to estimate and test the disease penetrance difference between alternative genotypes.
When some people with that genotype never manifest the condition over a normal life span, penetrance is incomplete or low.
There is evidence for incomplete penetrance of this disorder.
By appropriate choice of penetrance values, an arbitrary mode of inheritance can be specified including additive, dominant, recessive, and others.
They treated the probabilities of disease incidence conditional on genotypes (called the penetrance) as parameters of interest.
The penetrance of the disease gene is 75%.
Even genetic disorders of high penetrance are not manifested equivalently across individuals.
Conversely, the actual phenotypic disease of phenylketonuria showed increasingly incomplete penetrance with widespread introduction of low phenylalanine diet.
Furthermore, for infected pregnant mice, transmission occurs to at least one foetus in 100 % of cases while variable penetrance of congenital infection is observed.
Note that penetrance and expressivity are aggregate variables which represent information that can not be assigned back to individuals.
Three mathematical components form the basis of complex segregation analysis : the penetrance function, the gene frequency distribution and the transmission probabilities distribution.
This observation highlights the importance of consideration of the genetic background when studying traits with variable penetrance.

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