| penetrance |
Probability that a disease genotype will result in an abnormal phenotype .
출처: www.bwhct.nhs.uk/clinicalgenetics/glossary.htm
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|---|---|
| penetrance |
the proportion of individuals with a mutation causing a particular disorder who exhibit clinical symptoms of that disorder; a condition (most commonly inherited in an autosomal dominant manner) is said to have complete penetrance if clinical symptoms are present in all individuals who have the disease-causing mutation, and to have reduced or incomplete penetrance if clinical symptoms are not always present in individuals who have the disease-causing mutation
출처: www.enh.org/healthandwellness/clinicalservices/gen...
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| penetrance |
The percentage of individuals who have a specific gene that also have symptoms.
출처: hganj.org/Glossary.htm
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| penetrance |
The likelihood, or probability, that a particular genotype will be expressed in the phenotype. A penetrance of 100% means that the associated phenotype always occurs when the corresponding genotype is present. Similarly, if only 30% of those carrying a particular allele (such as a disease-causing mutation) exhibit a phenotype (the disease), the penetrance is 30%.
출처: jech.bmjjournals.com/cgi/content/full/57/7/480
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| penetrance |
The percentage of individuals in a population that actually exhibit the (mutant) phenotype even though they carry the mutation
출처: ratguide.com/breeding/genetic_terms.php
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