早发性帕金森病parkin基因的一个新的点突变

目的：观察不同亚型帕金森病（Parkinson's disease,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-strand conformation polymorphism,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。

A novel point mutation in parkin gene was identified in an early-onset case of Parkinson''s disease

Objective To investigate the distribution of possible novel mutation of parkin gene in variant subset patients with Parkinson's disease (PD) in China and to explore the role of parkin gene in the pathogenesis of PD. Methods Seventy patients were divided into early onset and late onset groups, and 70 healthy subjects were included as controls. Genomic DNA from 70 normal controls and from those of PD patients were extracted from peripheral blood leukocytes with standard procedures. Mutations of parkin gene (exons 1 12) in all subjects mentioned above were screened by PCR SSCP. And in the samples with abnormal SSCP result, further sequencing was performed to confirm the mutation and its location. Results A new missense mutation (Gly284Arg) on exon 7 was found in a sample, while 4 samples from all subjects exhibited abnormal mobility shift on SSCP electrophoresis. All mentioned DNA variants were sourced from the samples of the patients with early onset PD. Conclusion Point mutation in parkin gene also contributes partly to the development of early onset Parkinson's disease in Chinese population.