早发性帕金森病parkin基因的突变分析

Analysis of the parkin gene deletion mutations in Chinese patients with Parkinson's disease

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 clarify parkin gene deletion mutations at exons 3 to 7 in Chinese patients with early onset Parkinsons disease and analyze them together with the clinical features of PD. Methods DNA was extracted from peripheral blood in 33 sporadic PD patients; deletion mutations of parkin gene were identified by PCR amplification and agarose gel electrophoresis. The clinical data were also analyzed together with the above information.Results In 33 sporadic PD patients, we found three different homozygous intragenic deletion mutations involving exon 5, exon 7, exons 5 and 7, the ages of onset were 46?48 and 50 respectively. All the patients who had parkin gene deletion mutations had tremor, rigidity and bradykinesia, but athetosis was not found. In addition, the deletion mutations of parkin gene at exons 3, 4, 6 were not found.Conclusion There are deletion mutations of parkin gene at exons 5, 7 in Chinese case of PD.