中文摘要：

[目的]探讨突触受体相关蛋白（rapsyn）基因启动子区单核苷酸多态性（SNPs）与重症肌无力（MG）患病的相关性．[方法]从63例MG患者及63例正常对照组人群外周血标本中提取DNA，用PeR扩增rapsyn基因的启动子基因片段，直接测定序列．与野生型rapsyn基因相比较，分析MG病例组与正常对照组所有个体的rapsyn基因启动子区，尤其是5个多态位点，即-189C〉T，-116C〉A，-101C〉T，-72C〉T，-52A〉T是否发生突变．[结果]MG病例组和正常对照组rapsyn基因启动子区的5个多态位点均未发现突变，启动子区其他区域也未发现突变．[结论]63例MG患者rapsyn基因启动子区不存在多态位点，rapsyn基因启动子区SNPs与MG无相关性．

英文摘要：

OBJECTIVE To explore whether the single nucleotide polymorphisms （SNPs） of receptor- associated protein at the synapse （rapsyn） gene promoter is associated with the clinical symptoms of patients with myasthenia gravis （MG）. METHODS The genomic DNA was extracted from peripheral blood cells, sampled from 63 patients with MG and 63 control individuals. The promoter of rapsyn gene was amplified by PCR, then the product of PCR sequenced directly. Each sequence, especially the 5 alleles of SNPs marked as -189C〉T,-116C〉A,-101C〉T,-72C〉T,-52A〉T, was compared and analysed with wild-type rapsyn gene, and between MG patients and control groups. RESULTS No mutation was found either in the 5 alleles of SNPs above or in other sequences of the promoter of rapsyn both in MG patients and control group. CONCLUSION There is no gene polymorphism in promoter of rapsyn both in the tested MG patients and control groups, and the SNPs in the promoter of rapsyn is not associated with MG in this study.