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

作　　者：唐北沙[1] 柳四新 严新翔[1] 沈璐[1] 江泓[1] 杨期明[1] 欧阳珊[1] 

机构地区：[1]中南大学湘雅医院神经内科,长沙410008 [2]长沙市第一医院神经内科

出　　处：《中华内科杂志》2001年第12期799-801,共3页Chinese Journal of Internal Medicine

基　　金：湖南省科委课题基金资助项目 ( 10 13 1)

摘　　要：目的　探讨中国人帕金森病 (PD)中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例散发性PD和 6例家族性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　 33例散发性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 ,其起病年龄分别为 46、48、5 0岁 ;6例家族性PD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 6 0岁 ;所有缺失突变患者均有震颤、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　中国散发性和家族性PD患者中存在parkin基因第 5、7外显子缺失突变改变。Objective Clarify parkin gene deletion mutations at exons 3 to 7 in Chinese patients with Parkinson′s disease (PD)and analyze them together with the clinical features of PD. Methods DNA was extracted from peripheral blood of 33 sporadic PD patients and 6 familial PD 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 Of the 33 sporadic PD patients, 1 had exons 5 and 7 deletion, 2 had exon 7 deletion. The age of onset was 46, 48, 50 respectively. In the 6 familial PD patients , 1 had exon 5 deletion. The inheritance pattern in this patient was autosomal recessive and onset of the patient was 60 . All of the patients who had parkin gene deletion mutations had tremor, rigidity and bradykinesia, but athetosis was not found. In addition, deletion mutations of parkin gene at exons 3, 4 and 6,were not found. Conclusion There are deletion mutations of parkin gene at exons 5 and 7 in Chinese PD patients.

关 键 词：帕金森病 PARKIN基因突变 病例 诊断 发病机制 遗传 

分 类 号：R742.5[医药卫生—神经病学与精神病学]