帕金森病患者parkin基因点的突变(英文)

Research on point mutation of parkin gene in patients with Parkinson's disease

目的观察不同亚型帕金森病(PD)患者中是否存在parkin基因新的突变以及突变的分布,探讨parkin基因在PD发病机制中的可能作用。方法70例患者被分为早发性PD和晚发性PD,70例正常体检者为对照组。以提取基因组DNA为模板,扩增parkin基因的全部12个外显子,然后行单链构象多态性(SSCP)电泳观察,对泳动异常者进行DNA序列测定,以确定外显子中突变的存在及其分布。结果70例患者中发现4例SSCP泳动异常,测序证实在1例早发性PD患者的外显子7中存在一个未曾报道过的新的点突变位点Gly284Arg。结论parkin基因点突变也是我国早发性PD患者的致病原因之一。

Aim To observe whether there are new muta tions in parkin gene and the distribution of the muta tions in patients with different subset Parkinson' s disease(PD),as well as to explore probable funct ional impact of the mutation on the pathogenesis o f PD.Methods 70patients were di-vided into early onset PD and late onset PD,and the control group included70normal persons.Extracted genome DNA was selected as template,and all 12exons of parkin gene were perfo rmed amplification.Single-strand conformation polymorphism(SSCP)electrophoresis was applied ,and DNA sequencing for the specimen with abn ormal electrophoresis was carried o ut to determine whether there were muta tions in the exons and the distribution of mutations.Results There were 4cases with abnormal SSCP elec-trophoresis in 70patients,and one n ew point mutation Gly284Arg was i-dentified in exon 7by DNA sequencing in an early onset PD.Conclusion The point mutation of parkin gene is a lso one of the etiological factors fo r early onset PD in our country.