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目的 探讨中国家族性帕金森病 (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 6例无血缘相关的家族性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 6例患者中 ,发现 1例有第 5外显子缺失 ,其遗传模式呈常染色体隐性遗传 ,起病年龄 60岁 ,临床表现为震颤、僵直和运动迟缓 ,但无异动症。第 3、4、6、7外显子未发现缺失突变。结论 中国家族性PD患者中存在parkin基因第 5外显子缺失突变改变
Objective To investigate whether there is a deletion mutation in exon 3 ~ 7 of parkin gene in patients with familial Parkinson’s disease (PD) in China and its relationship with the clinical features of the disease. Methods Peripheral blood was collected from 6 unrelated familial PD patients and DNA was extracted. Deletion mutations of exon 3 to exon 7 of parkin gene were identified by PCR amplification and agarose gel electrophoresis, and the clinical data were analyzed. Results One of 6 patients was found to have the deletion of exon 5, the autosomal recessive genetic pattern was found. The onset age was 60 years old. The clinical manifestations were tremor, stiffness and delayed movement, but no dyskinesia. No mutations were found in the 3rd, 4th, 6th and 7th exons. Conclusions There is a change of deletion mutation of exon 5 of parkin gene in Chinese familial PD patients