家族性常染色体隐性遗传早发性帕金森综合征ATP13A2基因突变研究  

Mutation analysis of ATPI3A2 gene in Chinese patients with familial autosomai recessive early-onset parkinsonism

作　　者：何丹[1] 郭纪锋[1] 王磊[1] 肖智权[1] 聂利珞[1] 张学伟[1] 唐北沙[1] 

机构地区：[1]中南大学湘雅医院神经内科,长沙410008

出　　处：《中华医学遗传学杂志》2009年第5期567-570,共4页Chinese Journal of Medical Genetics

基　　金：基金项目：国家高技术研究发展计划“863计划”（2006AA02A408）;国家重点基础研究发展计划“973计划”（2006cb500700）国家科技支撑计划“十一五计划”（2006BA105A07）;国家自然科学基金（30370515,30570638,30770735）

摘　　要：目的探讨常染色体隐性遗传早发性帕金森综合征（autosomalrecessiveearly-onsetparkinsonism，AREP）家系患者中ATH3A2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25个已排除Parkin，DJ-1和PjNKj基因纯合突变及复合杂合突变的AREP家系共46例患者进行ATP13A2基因突变分析。结果AREP患者中未发现ATP13A2基因的致病突变，发现了6个已知多态，为IVS6＋70A〉G、IVS12＋66A〉G、m1849C〉T、IV$20—56G〉A、m2671C〉T和m2824G〉A。结论家族性AREP患者中ATPj3A2基因的突变可能罕见。Objective To investigate the mutation characteristics of ATP13A2 gene in Chinese patients with familial autosomal recessive early-onset parkinsonism （AREP）. Methods Mutations of ATP13A2 gene were screened by polymerase chain reaction combined with DNA direct sequencing in patients with familial AREP. Results No pathogenic mutations in ATP13A2 gene were detected in this group. Six reported polymorphisms were identified. They were IVS6＋ 70A〉G, IVS12＋ 66A〉G, m. 1849C：〉T, IVS20 56 GT〉A, m2671C〉T and m2824G〉A. Conclusion ATP13A2 gene mutations may be rare in Chinese patients with familial autosomal recessive early-onset parkinsonism.

关 键 词：家族性常染色体隐性遗传早发性帕金森综合征 ATP13A2基因 基因突变 

分 类 号：R686[医药卫生—骨科学]