中国人重症肌无力的遗传易感性研究

Genetic Susceptibility of Myasthenia Gravis in Chinese Patients

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－ＤＱＡ１和－ＤＱＢ１座位的基因型。结果：共检出正常人ＤＱＡ１等位基因８种，ＤＱＢ１等位基因１０种，重症肌无力患者ＤＱＡ１等位基因８种，ＤＱＢ１等位基因９种。结果分析表明ＤＱＡ１＊０５０１与ＭＧ成负相关，ＤＱＢ１＊０３０２与ＭＧ成正相关。从基因水平首次用ＰＣＲ－ＲＦＬＰ方法得出中国人重症肌无力ＤＱ分子的易感基因型。

Myasthenia Gravis (MG)is an autoimmune disease which is about a neuromuscular disorder of autoimmune origin.MG in different races or ethnic groups has different genetic susceptibility.To search for the associations of MG in Chinese patients with HLA DQ molecules,PCR RFLP method was employed for genotyping HLA DQA1 and DQB1 genes of MG patients and normal Chinese.The distribution of alleles of DQA1 and DQB1 genes of MG patients and normal Chinese.The distribution of alleles of DQA1 and DQB1 in normal Chinese and 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=0.416 6,Pc=0.031 5).DQ haplotype DQA1 *0301 DQB1 *0302 was significantly increased in patients when compared to controls (RR=7.727,Pc=0.010 9).