摘要
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 2 1例 PPD患者中发现有 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45 .7± 1.8岁 ;所有缺失突变病例均有震颤、僵直和运动迟缓 ,但无异动症和 PD家族史 ;第 2、3、5外显子未发现缺失突变。结论 中国人 PPD中存在 parkin基因第 1、4。
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.
出处
《中华医学遗传学杂志》
EI
CAS
CSCD
北大核心
2000年第5期323-325,共3页
Chinese Journal of Medical Genetics
