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利用大型家系在连锁区域进行关联测试。

Association testing in a linked region using large pedigrees.

作者信息

Cantor Rita M, Chen Gary K, Pajukanta Päivi, Lange Kenneth

机构信息

Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA 90095-7088, USA.

出版信息

Am J Hum Genet. 2005 Mar;76(3):538-42. doi: 10.1086/428628. Epub 2005 Jan 18.

Abstract

This report describes computer implementation of a scheme for joint linkage and association analysis. The model implemented in the computer package Mendel estimates both recombination and linkage-disequilibrium parameters and conducts likelihood-ratio tests for (1) linkage alone, (2) linkage and association simultaneously, and (3) association in the presence of linkage. Application of the method to data from Finnish pedigrees with familial combined hyperlipidemia illustrates its potential for identification of associated SNP haplotypes in the presence of linkage. For the test results to be valid, good estimates of haplotype frequencies must be used in the analysis.

摘要

本报告描述了一种联合连锁与关联分析方案的计算机实现。计算机软件包Mendel中实现的模型可估计重组和连锁不平衡参数,并针对以下情况进行似然比检验:(1) 仅连锁;(2) 连锁与关联同时进行;(3) 存在连锁时的关联。将该方法应用于芬兰家族性混合性高脂血症家系的数据,说明了其在存在连锁情况下识别相关单核苷酸多态性(SNP)单倍型的潜力。为使检验结果有效,分析中必须使用单倍型频率的良好估计值。

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