中华皮肤科杂志 ›› 2008, Vol. 41 ›› Issue (7): 436-438.

• 论著 • 上一篇    下一篇

中国汉族人群染色体1q21存在寻常性银屑病易感基因

金丽威 鲁智勇 陈小英 袁文涛 牛振民 郑捷   

  1. 上海第二医科大学瑞金医院皮肤科 上海交通大学医学院附属新华医院皮肤科 上海交通大学医学院附属瑞金医院皮肤科 上海市 国家人类基因组南方研究中心 上海 国家人类基因组南方研究中心 上海交通大学医学院附属瑞金医院皮肤科
  • 收稿日期:2007-09-11 修回日期:2008-03-21 发布日期:2008-07-15
  • 通讯作者: 金丽威 E-mail:microjin@eastday.com

Chromosome 1q21 contains genes linked to psoriasis vulgaris in Chinese Han population

  

  • Received:2007-09-11 Revised:2008-03-21 Published:2008-07-15

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摘要： 目的　确定中国汉族人群染色体1q21上是否存在寻常性银屑病易感基因。方法　用覆盖染色体1q21-1q23.1的8个微卫星标记，对36个寻常性银屑病家系共190个个体（包括92例患者，98例正常人；年龄12 ~ 81岁，平均44岁）进行基因组扫描研究，并用ETDT及GENEHUNTER软件进行连锁不平衡分析。结果　GENEHUNTER示D1S2345与银屑病连锁，其非参数连锁（NPL）值为1.735（P = 0.0329）；扩大范围传递不平衡检验（ETDT）示D1S2346的97 bp等位基因与D1S484的283 bp等位基因分别优先传递给患病子代（P < 0.05）。结论 中国汉族人群染色体1q21区存在寻常性银屑病易感基因。

关键词: 银屑病, 1号染色体, 连锁, 微卫星

Abstract: Objective To study the responsible genes of psoriasis vulgaris on chromosome 1q21 in Chinese Han population. Methods Thirty-six families with psoriasis vulgaris, including 92 patients and 98 normal relatives, aged from 12 to 81 years with an average age at 44 years, were enrolled in this study. Blood samples were obtained from all the participants and subjected to DNA extraction. A genome scan was performed with eight microsatellites distributing over chromosome 1q21-1q23.1. Evidence for linkage disequilibrium was assessed with extended transmission disequilibrium test （ETDT） program and GENEHUNTER software. Results Three short tandem repeat markers were found to be associated with psoriasis vulgaris. With GENEHUNTER, evidence for linkage disequilibrium between D1S2345 and psoriasis was found with the NPL value being 1.735 （P = 0.0329）. Moreover, ETDT revealed that the 97-bp allele of D1S2346 and 283-bp allele of D1S484 were preferentially delivered to affected descendants （P < 0.05）. Conclusion Chromosome 1q21 contains genes associated with psoriasis vulgaris in Chinese Han population.

Key words: Psoriasis, Chromosome 1, Linkage, Microsatellite