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为观察中国不同亚型帕金森病 (Parkinson’s disease,PD)患者的 parkin基因外显子 2～ 10的缺失分布 ,并探讨 parkin基因在 PD发病机制中的可能作用 ,对 6 3例 PD患者进行了观察。根据起病年龄将 6 3例患者分为早发性 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～ 10号外显子 ,然后行琼脂糖凝胶电泳 ,观察外显子缺失分布。在 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。结果表明 :parkin基因外显子缺失是我国早发性 PD患者的致病原因之一。
To observe the distribution of exon 2 to 10 deletions in parkin’s disease (PD) patients with different subtypes in China and to explore the possible role of parkin in the pathogenesis of PD, 63 patients with PD were enrolled Observed. According to the age of onset, 63 patients were divided into early-onset PD group and late-onset PD group. The extracted genomic DNA was used as a template to amplify the exon 2 to 10 of parkin gene, and then the exon distribution was observed by agarose gel electrophoresis. In 63 PD patients, one exon 2, 4 deletion and two exon 3 deletions were found, all of which were found in the early PD group. The results showed that: exon deletion of parkin gene is one of the causative agents of PD in our country.