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the frequency with which a heritable trait is manifested by individuals carrying the principal gene or genes conditioning it.
The frequency, expressed as a fraction or percentage, of people who are phenotypically affected, among those of an appropriate genotype (i.e., homozygous or hemizygous for recessives, heterozygous or hemizygous for dominants); for an autosomal dominant disorder, if only a proportion of people carrying the mutant allele display the abnormal phenotype, the trait is said to show incomplete penetrance. If all with the mutant allele show the abnormal phenotype, the trait is said to have complete or full penetrance. See: penetration.
The frequency, under given environmental conditions, with which a specific phenotype is expressed by those individuals with a specific genotype.
penetrancePenetration The disruption of a surface, as in penetrating–eg, gunshot wounds, hospital-acquired penetration contact due to infected 'sharps', or forcible penetration in rape
The frequency, expressed as a fraction or percentage, of people who are phenotypically affected, among people of an appropriate genotype; factors affecting expression may be environmental, or due to purely random variation; contrasted with hypostasis where the condition has a genetic origin and therefore tends to cause correlation in relatives.
penetranceThe frequency with which a GENE manifests its effect. Failure to do so may result from the modifying effect of other genes or from environmental influences. A single hereditable dominant or recessive characteristic is either penetrant or not. Penetrance is measured as the proportion of individuals in a population with a particular genotype who show the corresponding PHENOTYPE.
penetrancethe percentage of individuals with a particular GENOTYPE that display the genotype in the PHENOTYPE. For example, a dominant gene for baldness is 100% penetrant in males and 0% penetrant in most females, because the gene requires high levels of the male hormone for expression, an example of SEX LIMITATION. Once a gene shows penetrance it may show a range of EXPRESSIVITY of phenotype.
The frequency with which the characteristics transmitted by a gene appear in individuals possessing it. Penetrance is represented as the ratio of individuals who carry the gene and express its effects, over the total number of carriers of the gene in a population. Few of the genes in the genome show a high penetrance because environmental factors play a role in development. Examples: familial exudative vitreoretinopathy and neurofibromatosis (type 1 and type 2), which are both inherited as autosomal dominant, have 100% penetrance; about 90% of the children who carry the retinoblastoma gene develop the disease while the gene remains non-penetrant in the remaining 10% of the children. See expressivity; familial exudative vitreoretinopathy.