家族性帕金森病Parkin基因外显子缺失突变

Study on Parkin gene exon deletion mutations in familial Parkinson's disease

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.

AIM: To study the relationshop between the Parkin gene deletion mutations and the etiology of familial Parkinson's disease (PD) in china, and to explore the role of Parkin gene deletion mutations in the pathogenesis of the familial PD as well as the association with the clinical features, the effects of Posteroventral pallidotomy and Thalamotomy. METHODS: DNA was extracted from peripheral blood cells in 36 familial PD patients and 20 normal controls. Parkin gene exons 4,6,7,10 were identified by polymerase chain reaction(PCR)amplification and agarose gel electrophoresis, to detect the deletion mutations of Parkin gene exon and the rate of deletion mutations and the distribution of deletion mutations, the clinical symptom of PD were analysed together with the above information. RESULTS: Ten cases were found parkin gene exon deletion mutations in 36 familial PD patients, 8 cases had exon 4 deletion mutation, 2 cases had exon 6 and exon 7 respectively. Deletion mutations rate was 27.8%(10/36). The deletion mutations of parkin gene at exon 10 was not found. Deletion mutations of parkin gene at exons 4,6,7 and 10 were not found in all of normal controls. The outcome of the operations is good effect on the PD patients with parkin gene deletion mutations. CONCLUSION: Deletion mutations of Parkin gene at exons 4,6,7 contribute partly to the familial PD in China, the results of operations is related to Parkin gene exon deletion mutations.