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双胞胎核心家庭和核心家庭设计在分离分析中的信息性

Informativeness of twin-nuclear family and nuclear family designs for segregation analysis.

作者信息

Duffy D L, Eaves L J

机构信息

Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia.

出版信息

Genet Epidemiol. 1991;8(4):231-5. doi: 10.1002/gepi.1370080404.

DOI:10.1002/gepi.1370080404
PMID:1756946
Abstract

This brief note examines the precision of segregation parameter estimates from both twin-nuclear family and conventional nuclear family designs. The program MENDEL was used to derive expected frequencies of different family patterns of affectation (with fixed sibship size) under various single gene models, and then to estimate the standard errors (and information) associated with gene frequency and penetrance values at given sample sizes. As might be expected, a 2- to 5-fold increase in relative efficiency was found for the same family size if families included an MZ twin pair among their offspring. The methods used allow convenient calculation of expected informativeness of a given study design.

摘要

本短文考察了来自双生子核心家庭设计和传统核心家庭设计的分离参数估计的精度。使用程序MENDEL推导在各种单基因模型下不同患病家庭模式(具有固定同胞数量)的期望频率,然后估计在给定样本量下与基因频率和外显率值相关的标准误(和信息量)。正如预期的那样,如果家庭的后代中有一对同卵双胞胎,对于相同的家庭规模,相对效率会提高2至5倍。所使用的方法便于计算给定研究设计的期望信息量。

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