HLA-DQ基因多态性对重症肌无力遗传易患性的相关研究  

HLA-DQ polymorphism to myasthenia gravis susceptibility

作　　者：杜可明[1] 刘京昇[2] 张克雄 陈秀珍 左伋[1] 郝中顺 吕传真 

机构地区：[1]复旦大学医学院医学遗传学教研室,上海200032 [2]泰山医学院医学遗传学教研室 [3]华山医院神经内科

出　　处：《中华神经科杂志》2001年第4期221-224,共4页Chinese Journal of Neurology

基　　金：国家青年自然科学基金资助项目 ( 395 0 0 0 49)

摘　　要：目的　探讨HLA DQ基因多态性与重症肌无力 (MG)易患性的相关性。方法　运用聚合酶链反应 限制片段长度多态性 (PCR RFLP)法对 60例MG病人进行HLA DQA1、DQB1基因分型。结果　DQA1位点 :病人按不同胸腺组织、不同发病年龄及性别分组 ,与对照组比较 ,都有DQA1 0 3 0 1频率的明显增高 ,差异有显著性 ;DQB1位点 :MG病人组 (包括亚组 )与对照组比较 ,都有DQB1 0 3 0 3频率明显增高 ,DQB1 0 60 1和DQB1 0 60 2频率明显降低 ,差异都有显著性意义。结论　DQA1 0 3 0 1与胸腺增生型和≤ 3 0岁发病的男性MG病人易患性有关 ,DQB1 0 3 0 3与MG的易患性有关 ,而DQB1 0 60 1和DQB1 0 60 2是保护基因。Objective To analyze the association HLA DQ gene polymorphism to MG susceptibility.Methods HLA DQA1 and DQB1 were genetyped using PCR RFLP Results Comparing the frequency of HLA DQA1 alleles between MG patients with hyperplasia or MG males with disease onset less than 30 years and the healthy controls It was found that the frequency of DQA1*0301 was significantly increased Furthermore,in comparison with the frequency of HLA DQB1 alleles between MG patients (included subgroups)and the healthy controls,the frequency of DQB1*0303 was significantly increased,while the frequencies of DQB1*0601 and DQB1*0602 were significantly decreased And these differences were statistically significant. Conclusions HLA DQA1*0301 contributes to the genetic susceptibility of MG with hyperplasia and MG males with disease onset ≤30 years old DQB1*0303 was susceptible to MG DQB1*0601 and DQB1*0602 were protective genes

关 键 词：重症肌无力 HLA-DQ抗原 多态现象 疾病遗传易感性 

分 类 号：R746.1[医药卫生—神经病学与精神病学]