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과학/생물학

Prevalence VS Penetrance VS Expressivity

by pandatta 2022. 9. 13.

https://www.healthknowledge.org.uk/public-health-textbook/disease-causation-diagnostic/2d-genetics/basic-genomic-concepts

https://www.nature.com/scitable/topicpage/same-genetic-mutation-different-genetic-disease-phenotype-938/#

https://courses.lumenlearning.com/wm-biology1/chapter/reading-penetrance-and-expressivity/

Prevalence rate is the total number of cases of a disease existing in a
population divided by the total population. (genotype과 무관)

Penetrance measures the proportion of a population of individuals who carry
a disease-causing allele and express the related disease phenotype. A disease
shows complete penetrance if all of the individuals who carry the related
gene are affected by the disease. (ON/OFF 비율)

penetrance_image

Expressivity measures the extent to which a genotype shows its phenotypic
expression. Just as individuals with a certain mutation can exhibit differences
in disease severity, they can also show differences in many other aspects of
their phenotypes, such as their age of onset of disease symptoms. (발현량)

expressivity_image

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