HLA-DR、DQ基因多态性与系统性红斑狼疮相关性的研究  

Association between HLA DR,DQ genes and susceptibility to systemic lupus erythematosus in Chinese nationality

作　　者：彭学标[1,2,3] 费虹明[1,2,3] 岳晓玉 蒋伟宏[1,2,3] 徐文严 陈仁彪[1,2,3] 

机构地区：[1]第一军医大学南方医院皮肤科 [2]上海第二医科大学分子遗传学教研室 [3]中国协和医科大学中国医学科学院皮肤病研究所

出　　处：《中华微生物学和免疫学杂志》1997年第6期438-441,共4页Chinese Journal of Microbiology and Immunology

基　　金：中国医学科学院政策性拨款资助

摘　　要：应用聚合酶链反应结合顺序特异的寡核苷酸探针杂交（ＰＣＲ／ＳＳＯＰＨ）方法对江苏籍汉族ＳＬＥ患者和健康对照组ＨＬＡ－ＤＲＢ１、ＤＱＡ１：ＤＱＢ１基因作寡核苷酸分型。结果发现患者组中ＤＲＢ１＊１５０１、ＤＱＡ１＊０１０２等位基因频率及ＨＬＡ－ＤＲＢ１＊１５０１、－ＤＱＡ１＊０１０２、－ＤＱＢ１＊０６０２单倍型频率均明显高于正常对照组；相反，ＤＲＢ１＊０４（ＤＲ４）、ＤＱＡ１＊０６０１频率则明显低于正常对照组。所有ＤＱＢ１等位基因频率在两组间无显著差异，而ＤＱＡ１＊０１０２仅存在于ＤＲ２阳性的个体之中，推测汉族ＳＬＥ的易感基因可能靠近ＤＲ位点，且与单倍型ＨＬＡ－ＤＲＢ１＊１５０１、－ＤＱＡ１＊０１０２、－ＤＱＢ１＊０６０２紧密连锁，该单倍型可作为汉族ＳＬＥ易感的遗传标记。相反ＤＲ４，ＤＱＡ１＊０６０１则对ＳＬＥ发病可能有一定的保护性。To study the etiologic factors of systemic lupus erythematosus(SLE) and its association with HLA in Jiangsu province of our country.We typed HLA DR,DQ subregion in patients with SLE of Han nationality and matched control subjects using polymerase chain reaction and sequence specific oligonucleotide probe hybridization(PCR/SSOPH).The results indicated that DRB1*1501,DQA1*0102 allele frequencies were significantly more frequent in patients than in controls,so was HLA DRB1*1501,DQA1*0102,DQB1*0602 haplotype frequency.Whereas DRB1*04(DR4) and DQA1*0601 significantly decreased in patients,compared with controls.There were no significant difference for all DQB1 alleles frequencies between patients and controls,and DQA1*0102 only exsisted in individuals with DR2.Thus we suspected that the susceptible gene of SLE might be telomeric to the DR locus,and tightly linked to the haplotype HLA DRB1*1501,DQA1*0102,DQB1*0602.The haplotype may be thought as susceptible marker of SLE,whereas DR4 and DQA1*0601 have a protective effect on SLE.

关 键 词：系统性红斑狼疮 聚合酶链反应 寡核苷酸 HLA 

分 类 号：R593.241[医药卫生—内科学]