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| 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 | |
| 引用本文： | 何丹,郭纪锋,王磊,肖智权,聂利珞,张学伟,唐北沙. 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[J]. 中华医学遗传学杂志, 2009, 26(5). DOI: 10.3760/cma.j.issn.1003-9406.2009.05.020 |
| 作者姓名： | 何丹 郭纪锋 王磊 肖智权 聂利珞 张学伟 唐北沙 |
| 作者单位： | 中南大学湘雅医院神经内科,长沙,410008 |
| 基金项目： | 国家高技术研究发展计划(863计划)，国家重点基础研究发展规划(973计划)，国家科技支撑计划计划，国家自然科学基金 |
| 摘 要： | 目的 探讨常染色体隐性遗传早发性帕金森综合征(autosomal recessive early-onset parkinsonism,AREP)家系患者中ATP13A2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PINK1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、IVS20-56 G>A、m2671C>T和m2824G>A.结论 家族性AREP患者中ATP13A2基因的突变可能罕见. |
| 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 |
Mutation analysis of ATP13A2 gene in Chinese patients with familial autusomal recessive early-onset parkinsonism |
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| HE Dan,GUO Ji-feng,WANG Lei,XIAO Zhi-quan,NIE Li-luo,ZHANG Xue-wei,TANG Bei-sha. Mutation analysis of ATP13A2 gene in Chinese patients with familial autusomal recessive early-onset parkinsonism[J]. Chinese journal of medical genetics, 2009, 26(5). DOI: 10.3760/cma.j.issn.1003-9406.2009.05.020 | |
| Authors: | HE Dan GUO Ji-feng WANG Lei XIAO Zhi-quan NIE Li-luo ZHANG Xue-wei TANG Bei-sha |
| Abstract: | 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 G>A, m2671C>T and m2824G>A. Conclusion ATP13A2 gene mutations may be rare in Chinese patients with familial autosomal recessive early-onset parkinsonism. |
| Keywords: | familial autosomal recessive early-onset parkinsonism ATP13A2 gene gene mutation |
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