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家族性银屑病易感性基因定位于人类染色体17q的远端。

Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q.

作者信息

Tomfohrde J, Silverman A, Barnes R, Fernandez-Vina M A, Young M, Lory D, Morris L, Wuepper K D, Stastny P, Menter A

机构信息

Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas 75235-8591.

出版信息

Science. 1994 May 20;264(5162):1141-5. doi: 10.1126/science.8178173.

DOI:10.1126/science.8178173
PMID:8178173
Abstract

A gene involved in psoriasis susceptibility was localized to the distal region of human chromosome 17q as a result of a genome-wide linkage analysis with polymorphic microsatellites and eight multiply affected psoriasis kindreds. In the family which showed the strongest evidence for linkage, the recombination fraction between a psoriasis susceptibility locus and D17S784 was 0.04 with a maximum two-point lod score of 5.33. There was also evidence for genetic heterogeneity and although none of the linked families showed any association with HLA-Cw6, two unlinked families showed weak levels of association. This study demonstrates that in some families, psoriasis susceptibility is due to variation at a single major genetic locus other than the human lymphocyte antigen locus.

摘要

通过对多态性微卫星和八个多发型银屑病家系进行全基因组连锁分析,一个与银屑病易感性相关的基因被定位到人类17号染色体长臂的远端区域。在显示出最强连锁证据的家系中,银屑病易感基因座与D17S784之间的重组率为0.04,最大两点连锁值为5.33。也有遗传异质性的证据,虽然没有一个连锁家系显示与HLA - Cw6有任何关联,但有两个非连锁家系显示出较弱的关联水平。这项研究表明,在一些家系中,银屑病易感性是由人类淋巴细胞抗原基因座以外的单个主要基因座的变异引起的。

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Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q.家族性银屑病易感性基因定位于人类染色体17q的远端。
Science. 1994 May 20;264(5162):1141-5. doi: 10.1126/science.8178173.
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Linkage analysis of human leukocyte antigen (HLA) markers in familial psoriasis: strong disequilibrium effects provide evidence for a major determinant in the HLA-B/-C region.家族性银屑病中人类白细胞抗原(HLA)标记的连锁分析:强烈的不平衡效应为HLA - B/-C区域的主要决定因素提供了证据。
Am J Hum Genet. 1998 Jul;63(1):191-9. doi: 10.1086/301899.

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