早发性帕金森病parkin基因第1～6外显子缺失突变的初步研究

目的 探讨中国人早发性帕金森病（ｐｒａｅｃｏｘ Ｐａｒｋｉｎｓｏｎ ｄｉｓｅａｓｅ，ＰＰＤ）中ｐａｒｋｉｎ基因第１～６外显子是否存在突变，及其与该病临床特点的关系。方法 用ＰＰＤ患者外周血液提取ＤＮＡ，通过ＰＣＲ扩增，琼脂糖凝胶电泳鉴定ｐａｒｋｉｎ基因外显子缺失突变，并结合临床资料分析。结果 ２１中层得中发现有２例第１外显子缺失，２例第４外显子缺失，１例第６外显子缺失；发生基因缺失突变的病例年龄为

Preliminary studies on parkin gene deletion at exons 1 to 6 in Chinese patients with praecox Parkinson's disease

OBJECTIVE: To search parkin gene deletion mutations at exons 1 to 6 in Chinese patients with praecox Parkinson's disease (PPD) and analyze them together with the clinical features of PPD. METHODS: DNA was extracted from peripheral blood of PPD patients; deletion mutations of parkin gene were identified by PCR amplification and agarose gel electrophoresis. The clinical data were analyzed together with the above information. RESULTS: Out of 21 patients, 2 had exon 1 deletion, 2 exon 4 deletion, and 1 exon 6 deletion. The mean age of the patients with deletion mutation was 45.7+/-1.8 years. All of the patients who had parkin gene deletion mutation had tremor, rigidity and bradykinesia, but athetosis and family history of PD were not found. In additon, the deletion mutations of parkin gene at exons 2, 3, 5, were not found. CONCLUSION: There are deletion mutations of parkin gene at exons 1,4,6 in PPD of Chinese, and such deletions generally happen on middle-aged patients.