HLA-DQ分子遗传结构与中国人重症肌无力的相关性  

HLA-DQ Molecules Associated with Myasthenia Gravis in Chinese Patients

作　　者：李霞[1] 张克雄[2] 范玉新[1] 陈秀珍[2] 左 潘星华 朱定良[1] 庚镇城[1] 

机构地区：[1]复旦大学遗传所,上海200433 [2]上海医科大学生物学教研室医学遗传学研究室,上海200032 [3]第二军区大学生物学教研室,上海200433

出　　处：《Acta Genetica Sinica》1999年第4期295-300,共6页

基　　金：国家自然科学青年基金!39500049

摘　　要：重症肌无力与HLAⅡ类基因关联性在不同人种和民族中具有不同遗传易感性。为探讨中国人重症肌无力（MG）与HLA－DQ分子关联性，采用聚合酶链式反应－限制性片段长度多态性（PCR－RFLP）方法，分析了50例中国正常人及49例重症肌无力患者的HLA-DQAl和一DQBl座位的基因型。结果：共检出正常人DQAl等位基因8种，DQBl等位基因10种，重症肌无力患者DQAl等位基因8种，DQBl等位基因9种。结果分析表明DQAl*0501与MG呈负相关，DQB1*0302与MG呈正相关。DQA1*0301－DQB1*0302单体型在MG患者中显著增多。从基因水平首次用PCR－RFLP方法得出中国人重症肌无力DQ分子的易感单体型。Myasthenia Gravis (MG) is an autoimmune disease which is a neuromuscular disorder of autoimmune origin. MG in different races or ethic groups has different genetic susceptibility. To search for the associations of MG in the Chinese patients with HLA-DQ molecules, PCR-RFLP method was employed for genotyping HLA-DQA1 and -DQB1 genes of MG patients and the normal Chinese. The distributions of alleles of DQA1 and DQB1 in the normal Chinese and the MG patients were listed.The DQB allele, DQB1 * 0302 was positively associated with MG (RR=2.990,Pc=0.0307), and a negative association was found for DQA1 * 0501 (RR=0.4166,Pc=0.0315). DQ haplotype DQA1 * 0301-DQB1 * 0302 was significantly increased in patients when compared to controls (RR=7.727, Pc=0.0109).

关 键 词：重症肌无力 白细胞膜抗原 基因 遗传易感性 PCR 

分 类 号：R746.102[医药卫生—神经病学与精神病学]