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异常同胞对在连锁检测中的效用。

The utility of deviant sib pairs in the detection of linkage.

作者信息

Rochberg D R, Rochberg N, Hampe C L, Suarez B K

机构信息

Department of Human Biology, Stanford University, California, USA.

出版信息

Genet Epidemiol. 1997;14(6):873-8. doi: 10.1002/(SICI)1098-2272(1997)14:6<873::AID-GEPI52>3.0.CO;2-J.

DOI:10.1002/(SICI)1098-2272(1997)14:6<873::AID-GEPI52>3.0.CO;2-J
PMID:9433593
Abstract

A tripartite sampling design was used to help deduce the genetic structure of a complex biological system. Univariate and multivariate population parameters were estimated from an age/sex stratified sample of unrelated individuals. Estimates of familial resemblance between and within continuous variables were obtained from a sample of randomly ascertained nuclear families. Finally, a sample of highly deviant concordant and discordant independent sib pairs facilitated the discovery of major genes through multipoint linkage analysis. No false positive signals were inferred. The pleiotropic effects of major genes, however, became obscured when linkage analysis was performed on adjusted quantitative variables.

摘要

采用三方抽样设计来帮助推断复杂生物系统的遗传结构。从非亲属个体的年龄/性别分层样本中估计单变量和多变量群体参数。从随机确定的核心家庭样本中获得连续变量之间和内部的家族相似性估计值。最后,通过多点连锁分析,高度异常的一致和不一致独立同胞对样本有助于发现主基因。未推断出假阳性信号。然而,当对调整后的定量变量进行连锁分析时,主基因的多效性效应变得模糊不清。

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