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运用稳健同胞对法筛选单基因座、多基因座及多效性效应:应用于与高血压相关的性状研究

Use of the robust sib-pair method to screen for single-locus, multiple-locus, and pleiotropic effects: application to traits related to hypertension.

作者信息

Wilson A F, Elston R C, Tran L D, Siervogel R M

机构信息

Department of Biometry and Genetics, Louisiana State University Medical Center, New Orleans 70112-1393.

出版信息

Am J Hum Genet. 1991 May;48(5):862-72.

Abstract

Robust sib-pair linkage analysis can be used as a screening tool in the search for the potential involvement of single-loci, multiple-loci, and pleiotropic effects of single loci underlying phenotypic variation. Four large families were each ascertained through one adult white male with essential hypertension. The robust sib-pair method was used to screen these families for evidence of linkage between 39 quantitative traits related to hypertension and 25 genetic marker loci. All traits were analyzed on the untransformed, square-root and log-transformed scales. Among other findings, there is a suggestion of linkage between the 6-phosphogluconate dehydrogenase locus on chromosome 1p36 and mean fifth-phase diastolic blood pressure. There may also be linkage between the following markers and traits: the adenylate kinase-1 marker and/or the Lewis blood group marker and the traits height, weight, and biacromial breadth; the glyoxylase I marker and the traits upper-arm circumference and suprailiac skinfold thickness; the ABO blood group and adenylate kinase-1 markers on chromosome 9q34 and the third component of complement marker on chromosome 19p13 and dopamine-beta-hydroxylase; and the P1 blood group and the traits weight and 1-h postload serum glucose level.

摘要

稳健的同胞对连锁分析可作为一种筛选工具,用于寻找单基因座、多基因座以及单基因座潜在的多效性效应在表型变异中的潜在作用。四个大家族分别通过一名患有原发性高血压的成年白人男性确定。采用稳健的同胞对方法对这些家族进行筛查,以寻找与高血压相关的39个数量性状和25个遗传标记位点之间的连锁证据。所有性状均在未转换、平方根转换和对数转换尺度上进行分析。在其他研究结果中,提示1p36染色体上的6-磷酸葡萄糖酸脱氢酶基因座与平均第五期舒张压之间存在连锁。以下标记与性状之间可能也存在连锁:腺苷酸激酶-1标记和/或Lewis血型标记与身高、体重和双肩峰宽度性状;乙二醛酶I标记与上臂围和髂上皮肤褶厚度性状;9q34染色体上的ABO血型和腺苷酸激酶-1标记以及19p13染色体上的补体第三成分标记与多巴胺-β-羟化酶;以及P1血型与体重和负荷后1小时血清葡萄糖水平性状。

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