Penetrance

Illustration of the degree of Penentrance

Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (genotype) that also expresses an associated trait (phenotype). In medical genetics, the penetrance of a disease-causing mutation is the proportion of individuals with the mutation that exhibit clinical symptoms among all individuals with such mutation.[1] For example: If a mutation in the gene responsible for a particular autosomal dominant disorder has 75% penetrance, then 75% of those with the mutation will go on to develop the disease, showing its phenotype, whereas 25% will not.  

Illustration of different degrees of penetrance and variable expressivity

Penetrance only refers to whether an individual with a specific genotype exhibits any phenotypic signs or symptoms, and is not to be confused with variable expressivity which is to what extent or degree the symptoms for said disease are shown (the expression of the phenotypic trait). Meaning that, even if the same disease-causing mutation affects separate individuals, the expressivity will vary.[1][2] [3]

  1. ^ a b Cooper, David N.; Krawczak, Michael; Polychronakos, Constantin; Tyler-Smith, Chris; Kehrer-Sawatzki, Hildegard (2013-10-01). "Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease". Human Genetics. 132 (10): 1077–1130. doi:10.1007/s00439-013-1331-2. ISSN 1432-1203. PMC 3778950. PMID 23820649.
  2. ^ Raj, Arjun; Rifkin, Scott A.; Andersen, Erik; van Oudenaarden, Alexander (2010-02-18). "Variability in gene expression underlies incomplete penetrance". Nature. 463 (7283): 913–918. Bibcode:2010Natur.463..913R. doi:10.1038/nature08781. ISSN 1476-4687. PMC 2836165. PMID 20164922.
  3. ^ Zlotogora, Joël (2003-09-01). "Penetrance and expressivity in the molecular age". Genetics in Medicine. 5 (5): 347–352. doi:10.1097/01.GIM.0000086478.87623.69. ISSN 1098-3600. PMID 14501829.

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