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目的 探讨中国早发性帕金森病 (PD)患者 parkin基因第 3～ 7外显子是否存在缺失突变及其与该病临床特点的关系。方法 采集 33例早发性PD患者外周血液 ,提取DNA ,通过PCR扩增、琼脂糖凝胶电泳鉴定 parkin基因第 3～ 7外显子缺失突变 ,并结合临床资料分析。 结果 33例早发性PD患者中发现 2例有第 7外显子缺失 ,1例有第 5、7外显子联合缺失 ,发生缺失突变患者起病年龄分别为 46、48、5 0岁 ,临床表现为震颤、僵直和运动迟缓 ,但无异动症。第 3、4、6外显子未发现缺失突变。结论 中国早发性PD患者中存在 parkin基因第 5、7外显子缺失突变改变。
Objective To investigate the presence or absence of mutations in exon 3 to exon 7 of parkin gene in Chinese patients with early-onset Parkinson’s disease (PD) and its relationship with the clinical features of the disease. Methods Peripheral blood was collected from 33 cases of PD patients and DNA was extracted. The deletion mutation of exon 3 ~ 7 of parkin gene was identified by PCR amplification and agarose gel electrophoresis, and the clinical data were analyzed. Results In 33 cases of early-onset PD patients, there were 2 cases with exon 7 deletion, 1 case with exon 5 and 7 deletion, and the onset age of patients with deletion mutation were 46,48 and 50 years old respectively, Clinical manifestations of tremor, stiffness and bradykinesia, but no dyskinesia. No mutations were found in exons 3, 4 and 6. Conclusions There is a mutation in exon 5 and 7 of parkin gene in Chinese patients with early-onset PD.