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大型家系中数量性状与质量性状的分离分析和连锁分析。

Segregation and linkage analysis of a quantitative versus a qualitative trait in large pedigrees.

作者信息

Graham J, Chapman N H, Goddard K A, Goode E L, Wijsman E M, Jarvik G P

机构信息

Department of Biostatistics, University of Washington, Seattle 98195-7720, USA.

出版信息

Genet Epidemiol. 1997;14(6):999-1004. doi: 10.1002/(SICI)1098-2272(1997)14:6<999::AID-GEPI73>3.0.CO;2-F.

DOI:10.1002/(SICI)1098-2272(1997)14:6<999::AID-GEPI73>3.0.CO;2-F
PMID:9433614
Abstract

Goals of this analysis were to map loci contributing to variation in the quantitative trait, Q1, using the lod-score method on data set 1, and to explore the difference in power to map genes when considering the discrete vs. quantitative phenotype. Segregation analyses, after covariate adjustment, correctly suggested two contributing loci. The major gene on chromosome 5 was successfully mapped, but the major gene on chromosome 8 was not. Comparison of linkage analyses for the qualitative and quantitative traits confirmed that the quantitative trait is more informative, suggesting that localizing disease genes with a qualitative trait would be more difficult in these pedigrees.

摘要

本分析的目标是使用数据集1上的对数得分方法,定位影响数量性状Q1变异的基因座,并探讨在考虑离散型与数量型表型时,定位基因的效能差异。在进行协变量调整后,分离分析正确地提示了两个致病基因座。5号染色体上的主基因被成功定位,但8号染色体上的主基因未被定位。对定性和定量性状的连锁分析比较证实,数量性状提供的信息更多,这表明在这些家系中,利用定性性状定位疾病基因会更加困难。

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