帕金森病患者parkin基因点的突变(英文)

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。

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

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.