V2EX penetrance

Penetrance

定义 Definition

penetrance(外显率/穿透率):遗传学术语,指某个基因变异(或基因型)在携带者中实际表现为相应表型的比例。常用百分比表示。
(注:在不同个体/环境下,同一变异的外显率可能不同;与“expressivity 表现度”相关但不同。)

发音 Pronunciation

/pntrns/

例句 Examples

Penetrance is higher in adults than in children.
外显率在成年人中比在儿童中更高。

Even with the same mutation, incomplete penetrance can make the disease appear in some family members but not others.
即使是同一种突变,不完全外显也会导致疾病在一些家族成员身上出现,而在另一些人身上不出现。

词源 Etymology(简述)

来自 penetrant(“能穿透的/能显现的”)+ 名词后缀 -ance(表示性质或状态)。在遗传学中引申为:基因效应“穿透”到可观察表型的程度(以比例衡量)。

相关词 Related Words

文献与著作 Literary/Notable Works

  • Thompson & Thompson Genetics in Medicine(医学遗传学经典教材,讨论外显率与遗传风险评估)
  • Introduction to Genetic Analysis(Griffiths 等,讲解孟德尔偏离现象时常涉及外显率)
  • Human Molecular Genetics(Strachan & Read,涉及致病变异的外显率与临床变异性)
  • *Online Mendelian Inheritance in Man (OMIM)*(权威遗传病数据库条目中频繁使用“penetrance”描述变异的表型出现概率)
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