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确定遗传模式对于复发风险评估的重要性。

The importance of determining the mode of inheritance for the estimation of recurrence risks.

作者信息

Van Regemorter N, Smith C

出版信息

J Genet Hum. 1976 Mar;24(1):49-60.

PMID:932698
Abstract

Recurrence risks for the generalised single locus model and for the multifactorial model have been derived and compared. First the areas of overlap for the two models were determined and sets of parameters chosen to represent these overlap areas. Certain sets of parameters for the single locus model give recurrence risks in sibships similar to these for multifactorial inheritance. Other sets (representing very low penetrant dominant genes) give markedly lower risks. Similar results hold for more complex family histories. Empiric risks for families with two or more affected individuals are needed so as to indicate the trend of the increase in risk which could then be extrapolated to other families and be used in genetic counseling.

摘要

已推导并比较了广义单基因座模型和多因素模型的复发风险。首先确定了这两种模型的重叠区域,并选择了一组参数来代表这些重叠区域。单基因座模型的某些参数集给出的同胞复发风险与多因素遗传的风险相似。其他参数集(代表极低外显率的显性基因)给出的风险明显较低。对于更复杂的家族史,也有类似结果。需要有两个或更多受累个体的家庭的经验性风险,以表明风险增加的趋势,然后可将其外推到其他家庭并用于遗传咨询。

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