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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 investigate the distribution of Parkin gene deletion in patients with early-onset and late-onset Parkinson’s disease (PD) and to explore its possible role in the pathogenesis of PD in different subtypes. Methods Sixty-three patients with PD were divided into premature PD group and late PD group. The extracted genomic DNA was used as a template to amplify Parkin gene exon 2 to exon 5 and then subjected to agarose gel electrophoresis to observe the deletion distribution of exon. Results One case of exon 2 and 4 deletion and 2 cases of exon 3 deletion were found in 63 cases of PD patients, all of which were found in the early PD group. Conclusions The exon deletion of Parkin gene may be one of the causative agents of PD in our country.