帕金森病患者Parkin基因的研究

Study of Parkin gene in the patients with Parkinson's disease

目的 研究 Parkin基因缺失在早发性和晚发性帕金森病 (PD)患者中的分布情况 ,探讨其在不同亚型 PD发病机制中的可能作用。方法 对 6 3例 PD患者分为早发性 PD组和晚发性 PD组。以提取的基因组 DNA为模板 ,扩增 Parkin基因 2～ 5号外显子 ,然后行琼脂糖电泳 ,观察外显子的缺失分布。结果 6 3例 PD患者中发现外显子 2、4缺失各 1例 ,外显子 3缺失 2例 ,这些缺失均出现于早发性 PD组。结论 Parkin基因外显子缺失可能是我国早发性 PD患者的致病原因之一。

Objective To study the distribution of deletions in the Parkin gene among the patients of early onset and later onset Parkinson's disease(PD) in China, and explore its important role in the pathogenesis of varied subtypes PD.Methods 63 PD patients were divided into early onset and later onset groups respectively. Exon 2~5 were amplified by PCR, the template was made by the genomic DNAs of patients, and the deletion distribution was observed by agarose electrophoresis.Results In the 63 patients with PD,Exon 2,4 deletion for 1 case respectively,Exon 3 deletion for 2 cases were found,All of them belong to the group of early onset Parkinson's disease.Conclusion Parkin gene deletions have contributed to the development of early onset Parkinson's disease in China.