常染色体隐性遗传性早发型帕金森综合征DJ1基因突变研究  

Mutation analysis of DJ1 gene in patients with autosomal recessive early-onset Parkinsonism

作　　者：郭纪锋[1] 唐北沙[1] 张玉虎[1] 夏昆[2] 蔡芳[2] 潘乾[2] 沈璐[1] 江泓[1] 赵国华[1] 严新翔[1] 曹立[1] 

机构地区：[1]中南大学湘雅医院神经内科,长沙410001 [2]中国医学遗传学国家重点实验室

出　　处：《中华医学遗传学杂志》2005年第6期641-643,共3页Chinese Journal of Medical Genetics

基　　金：国家863计划项目(2004AA227040);国家科技攻关计划项目(2002BA711A07-03);国家自然科学基金(30070273);高等学校博士学科点专项科研基金(20020533024)~~

摘　　要：目的探讨常染色体隐性遗传性早发型帕金森综合征(autosomal recessive early-onset Parkinson-ism,AR-EP)DJ1基因的突变特点。方法应用聚合酶链反应结合DNA直接序列分析方法,对11个常染色体隐性遗传性早发型帕金森综合征家系先证者的DJ1基因进行突变研究。结果本组AR-EP患者未发现DJ1基因的致病突变,在内含子区发现6个多态,分别为IVS1-15T→C、IVS4+30T→G、IVS4+45G→A、IVS4+46G→A、IVS5+31G→A和g.168_185del,其中3个(IVS1-15T→C、IVS4+45G→A、IVS4+46G→A)为新发现的多态。结论中国人常染色体隐性遗传性早发型帕金森综合征患者DJ1基因突变可能罕见。Objective To investigate the mutation characteristics of DJ1 gene in Chinese patients with autosomal recessive early-onset Parkinsonism （AR-EP） . Methods Mutations of DJ1 gene were screened by polymerase chain reaction combined with DNA direct sequencing in index patients with AR-EP from 11 unrelated families. Results No pathogenetic mutations in the DJ1 gene were detected in this group. Six intronic DJ1 polymorphisms （IVS1-15T→C, IVS4 ＋ 30T→G, IVS4 ＋ 45G→A, IVS4 ＋ 46G→A, IVS5 ＋ 31G→A, g. 168-185del） were found. Three of them （ IVS1-15T→ C,IVS4 ＋ 45G→A, IVS4 ＋ 46（,→A） were not reported previously. Conclusion DJ1 mutatiotrs were rare in Chinese patients with autosomal recessive early-onset Parkinsonism.

关 键 词：常染色体隐性遗传性早发型帕金森综合征 DJ1基因 基因突变 

分 类 号：R742.5[医药卫生—神经病学与精神病学]