帕金森病患者parkin基因外显子纯合性缺失及其功能学的意义

The Homozygous Exonic Deletions of Parkin Gene and Its Functional Implications in Patients with Parkinson's Disease

目的 :观察不同亚型帕金森病 (PD)患者中 parkin基因外显子 2～ 10的缺失分布 ,探讨parkin基因在PD发病机制中的可能作用。方法 :6 3例患者被分为早发性PD和晚发性PD。以提取的基因组DNA为模板 ,扩增parkin基因第 2～ 10号外显子 ,然后行琼脂糖电泳 ,观察外显子纯合性缺失的分布。结果 :6 3例PD患者中发现外显子 2、4纯合性缺失各 1例 ,外显子 3纯合性缺失 2例 ,这些缺失均出现于早发性PD组。结论 :parkin基因外显子 2～ 4的纯合性缺失是我国早发性PD患者的致病原因之一。

Objective: To observe the distributions of deletions of the parkin gene among variant subset patients with Parkinson's disease (PD) in China and explore whether parkin gene played an important role in the pathogenesis of PD. Methods: Sixty three patients were divided into early onset and later onset groups. Exons 2～10 were amplified by PCR, templated by the genomic DNAs of patients, and the deletion distribution observed by agarose electrophoresis. Results: Four patients were found having homozygous exonic deletions (exon 2 and exon 4 deleted in one patient separately, and exon 3 deleted in 2 patients). All them belonged to the group of early onset of PD. Conclusion: Parkin homozygous deletions might contribute partly to the early onset of PD in China.