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目的 观察不同亚型帕金森病 (Parkinson’sdisease ,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发病机理中的可能作用。 方法 70例患者被分为早发性PD和晚发性PD ,70名正常体检者为对照组。以基因组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 (single strandconformationpolymorphism ,SSCP)电泳观察 ,对泳动异常者进行DNA序列测定 ,以确定外显子中存在的突变及其分布。结果 70例患者中有 4例SSCP泳动异常 ,测序证实 1例早发性PD患者的外显子 7存在 1个未曾报道过的新的点突变位点Gly2 84Arg。 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。
Objective To investigate whether there are new mutations in parkin gene and its distribution in patients with different subtypes of Parkinson’s disease (PD), and to explore the possible role of parkin gene in the pathogenesis of PD. Methods 70 patients were divided into early-onset PD and late-onset PD, 70 normal subjects as control group. Genome DNA was used as a template to amplify all 12 exons of parkin gene and then single strand conformation polymorphism (SSCP) electrophoresis was used to determine the DNA sequence of abnormal migratory motility In the presence of mutations and their distribution. Results SSCP motility was abnormal in 4 out of 70 patients. Sequencing confirmed that there was a new site of Gly2 84 Arg in exon 7 of one case of PD who had never been reported. Conclusions Parkin gene mutation is one of the causes of PD in our country.