帕金森病PINK1基因R492X突变分析  

R492X mutation analysis of PINK1 gene in patients with Parkinson’s disease

作　　者：张玉虎[1] 唐北沙[2] 王丽娟[1] 李静[2] 郭纪锋[2] 

机构地区：[1]广东省人民医院神经内科,广东广州510080 [2]中南大学湘雅医院神经内科,湖南长沙410008

出　　处：《中风与神经疾病杂志》2006年第5期523-524,插页,共3页Journal of Apoplexy and Nervous Diseases

基　　金：国家"863"高技术研究发展计划基金资助项目(2004AA227040);国家"十五"科技攻关计划基金资助项目(2002BA711A07);国家自然科学基金资助项目(30370515);广东省自然科学基金博士启动项目(06300979);广东省医学科研基金项目(B2006004);广东省人民医院重点学科专项基金项目(Y200546)

摘　　要：目的筛查中国帕金森病患者是否存在PINK1基因R492X无义突变。方法应用聚合酶链反应(PCR)、DNA测序和限制性片段长度多态性(RFLP)等技术对1个帕金森病家系及120例散发性帕金森病患者进行PINK1基因R492X的突变分析。结果在一个家系中检测出PINK1基因R492X无义突变:患者为突变纯合子,患者父母为杂合子;120例散发性帕金森病患者中未发现R492X突变。结论PINK1基因R492X无义突变不大可能是中国散发性帕金森病患者的突变热点。Objective To search for the R492X nonsense mutation of PINK1 gene in Chinese patients with Parkinson’s disease(PD). Methods One family and 120 sporadic patients with Parkinson’s disease were studied using polymerase chain reaction,DNA sequencing and restriction fragment length polymorphic (PCR-RFLP) techniques. Results R492X nonsense mutation was found in one family,the proband was a homozygote,and the parents were heterozygotes for R492X mutation. No mutation was found in sporadic patients with PD. Conclusion R492X nonsense mutation of PINK1 gene was rare in Chinese sporadic patients with PD.

关 键 词：帕金森病 PINK1 基因 突变 

分 类 号：R742.5[医药卫生—神经病学与精神病学]