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关于艾伦/赫鲁贝克双胞胎模型中确定概率的一则注释。

A note on ascertainment probability in the Allen/Hrubec twin model.

作者信息

Holm N V

出版信息

Acta Genet Med Gemellol (Roma). 1983;32(1):37-47. doi: 10.1017/s000156600000814x.

Abstract

In their general model of twin concordance Allen and Hrubec recently introduced the concept of secondary ascertainment rate to consider partial ascertainment of secondary cases. This concept is found to be of limited interest because only pairs where valid information can be obtained from both twins should be included in genetic analyses. It is furthermore shown that the validity of the proband method and the Allen/Hrubec model depends on the equivalence of ascertainment in twins from concordant and discordant pairs. However, if this condition is fulfilled, it has been shown how the ascertainment probability in cotwins of probands is related to the overall ascertainment probability in the total population.

摘要

在他们关于双胞胎一致性的通用模型中,艾伦和赫鲁贝克最近引入了二次确诊率的概念,以考虑二次病例的部分确诊情况。结果发现这个概念的实用价值有限,因为基因分析中应仅纳入能从双胞胎双方获取有效信息的配对。此外还表明,先证者法和艾伦/赫鲁贝克模型的有效性取决于同卵双胞胎中一致对和不一致对确诊情况的等效性。然而,如果满足这一条件,就已经表明了先证者的双胞胎的确诊概率与总人口中的总体确诊概率之间的关系。

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