拟表型

Humangenetik Pub Date : 2020-02-02 DOI:10.32388/n88xn4

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引用次数: 1

摘要

一种表型特征或疾病，与特定基因型所表达的特征相似，但发生在非该基因型携带者身上例如，不携带家族BRCA1或BRCA2突变的遗传性乳腺癌/卵巢癌综合征家族成员的乳腺癌将被认为是表型。这样的个体没有家族的癌症相关突变，因此，他们没有特定突变带来的相关癌症风险。Qeios·Definition, 2019年11月29日

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Phenocopy

A phenotypic trait or disease that resembles the trait expressed by a particular genotype, but in an individual who is not a carrier of that genotype. For example, breast cancer in a hereditary breast/ovarian cancer syndrome family member who does not carry the family’s BRCA1 or BRCA2 mutation would be considered a phenocopy. Such an individual does not have the family’s cancer-related mutation and therefore, they do not have the associated cancer risk from that specific mutation. Qeios · Definition, November 29, 2019

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Humangenetik

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