HLA-G基因3′UTR区14bp的多态性与上海地区中国人群SLE的关联性  

The association of the 14 bp insertion/deletion polymorphism in 3'un-translated region of of HLA-G gene with the susceptibility to systematic lupus erythematosus in Chinese population

作　　者：慕丽娟[1] 袁敏[1] 唐元家[2,3] 黄新芳[1] 钱晓霞[2,3] 曲波 王树军[1] 赵遐 沈南[1] 沈南[2,3] 

机构地区：[1]上海交通大学医学院附属仁济医院风湿科,上海 200001 [2]中国科学院上海生命科学院 [3]上海交通大学医学院科学研究所分子风湿病学研究组,上海 200025

出　　处：《现代免疫学》2009年第4期270-273,共4页Current Immunology

基　　金：上海市重点项目(08JC1414700);上海市优秀学科带头人资助项目(07XD14021);上海市自然基金(07ZR14130);上海生科院优秀青年人才领域前沿项目(2007KIP305);上海市重点学科建设资助项目(T0203);上海市医院临床科研资源共享平台项目(SHDC12007205)

摘　　要：非经典HLAⅠ类分子HLA-G基因位于SLE易感区域6p21.1-6q15内,为研究其3′端非翻译区(3′UTR)一段14 bp的缺失/插入多态性与SLE易感性的关联,我们抽提了受试者外周血基因组DNA,并通过双脱氧链终止测序法对286例中国人群正常人及486例SLE患者进行该多态性位点的分型,然后对该多态性位点的基因型及等位基因的分布频率进行病例-对照分析。发现总的SLE患者组及SLE各患者组的基因型及等位基因频率分布与正常对照组比较差异均有统计学意义(P<0.05)。因此,提示HLA-G可能为中国人群SLE的易感基因。To investigate the association of the 14 bp deletion/insertion polymorphism in 3＇ untranslated region （UTR） of the HLA-G gene located in the systematic lupus erythematosis （SLE）-assoeiated genomic region 6p21.1-6q15 and the susceptibility to SIZE, the genomic DNAs from peripheral blood of the volunteers were extracted and sequenced and this polymorphism locus typing of 286 healthy individuals of Chinese population and 486 SLE patients was performed by dideoxy chain termination method. After that the differences of genotype and allelic distribution between the two groups were analyzed by case-control method. As a result, we found that there were significant differences in the distribution of this 14bp deletion/insertion polymorphism between SLE patients and normal controls. These results support the concept that HLA-G gene plays a potential role in the sus ceptibility to SI.E in Chinese population.

关 键 词：HLA-G基因 14bp缺失/插入 系统性红斑狼疮 易感性 

分 类 号：R392[医药卫生—免疫学]