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目的:研究Parkin基因外显子缺失突变与中国家族性帕金森病(PD)发病的关系,探讨Parkin基因缺失突变在家族性PD发病机制中的作用及与临床特点、手术疗效之间的关系.方法:家族性PD患者36例为研究对象,正常人20例作为对照,提取外周血白细胞基因组DNA,采用聚合酶链式反应(PCR)扩增目的DNA片段,琼脂糖凝胶电泳检测Parkin基因外显子4,6,7,10缺失情况,观察外显子的缺失分布及缺失率,并结合PD患者的手术疗效分析.结果:家族性PD患者36例有10例外显子缺失突变,其中外显子4缺失8例,6和7缺失各1例,缺失突变率为27.8%,外显子10未发现异常,对照组中无缺失突变;有外显子缺失突变患者的手术疗效较好.结论:Parkin基因外显子4,6,7缺失突变是我国家族性PD的致病原因之一,PD患者的手术效果与Parkin基因外显子缺失突变与否有关.
OBJECTIVE: To study the relationship between the exon deletion of Parkin gene and the pathogenesis of familial Parkinson’s disease (PD) in China and to explore the role of Parkin gene deletion mutation in the pathogenesis of familial PD and its relationship with clinical features and surgical outcomes. Methods: Thirty-six patients with familial PD were selected as experimental subjects. Twenty healthy individuals were used as controls. The genomic DNA of peripheral blood leukocytes was extracted. The target DNA fragments were amplified by polymerase chain reaction (PCR) and sequenced by agarose gel electrophoresis Exon 4, 6, 7 and 10 were deleted, and the distribution and deletion of exons were observed, and the therapeutic effect of PD was analyzed.Results: There were 10 exon deletion mutations in 36 patients with familial PD, There were 8 cases of exon 4 deletion, 1 case of 6 and 7 deletion, 27.8% deletion mutation rate, no abnormality in exon 10 and no deletion mutation in control group. The patients with exon deletion mutation had better curative effect. Conclusion: The deletion of 4, 6 and 7 exon 4 of Parkin gene is one of the causes of familial PD in our country. The operative effect of PD is related to the deletion mutation of exon of Parkin gene.