早发性帕金森病Parkin基因突变研究  

Study on the Mutations of Parkin Gene in Early-onset Parkinson's Disease

作　　者：洪雁[1] 张本恕[2] 程焱[2] 

机构地区：[1]天津市环湖医院神经内科,300060 [2]天津医科大学总医院神经内科

出　　处：《天津医药》2005年第10期636-638,共3页Tianjin Medical Journal

摘　　要：目的:研究早发性帕金森病患者Parkin基因的突变情况,并分析Parkin基因突变对其功能的影响。方法:以40例早发性帕金森病患者和100例正常人为研究对象,提取基因组DNA,扩增Parkin基因的7对外显子,并用单链构象多态性(SSCP)的方法分析Parkin基因的缺失突变和点突变情况。结果:2例患者外显子4缺失,1例患者外显子2缺失,1例患者外显子7发生G951C突变。正常人中未发现外显子缺失和点突变。结论:Parkin基因突变是早发性帕金森病患者发病原因之一。Objective： Study on the mutations of Parkin gene in early-onset Parkinson＇s disease and analyze the effects of mutations on its function. Methods： The genomic DNA were extracted from 40 patients with early-onset Parkinson＇s disease and 100 normal controls. Seven exons of Parkin gene were amplified, and deletions and point mutations were analyzed by singlestrand conformation polymorphism （SSCP）. Results： There were exon4 deletions in two patients, exon2 deletion in one patient and G951C mutation of exon7 in one patient. There was no exon deletion and point mutation in normal controls. Conclusion： The mutation of Parkin gene is one of the pathogenesis of early-onset Parkinson＇ s disease.

关 键 词：帕金森病 等位基因 突变 PARKIN基因突变 早发性帕金森病 突变研究 单链构象多态性 基因组DNA 外显子2 研究对象 

分 类 号：R742.5[医药卫生—神经病学与精神病学] R775[医药卫生—临床医学]