| 脊髓小脑性共济失调2型的分子遗传学诊断及临床分析 |
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| 引用本文： | 王进,李桂冰,罗曼,王栋慧. 脊髓小脑性共济失调2型的分子遗传学诊断及临床分析[J]. 中国临床神经科学, 2009, 17(1) |
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| 作者姓名： | 王进 李桂冰 罗曼 王栋慧 |
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| 作者单位： | 广西医科大学第一附属医院老年神经内科,530021 |
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| 基金项目： | 广西自然科学基金，广西研究生教育创新计划资助课题 |
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| 摘 要： | 目的:研究分析脊髓小脑性共济失调2型(SCA2)的分子遗传学诊断、应用以及临床表现特征。方法:对来自广西地区临床诊断为SCA的1个家系2例患者和8名"健康"家系成员,以及35名正常对照人员,通过聚合酶链式反应、琼脂糖电泳等技术检测SCA2基因位点内CAG三核苷酸重复扩增次数,并对异常等位基因片段进行DNA测序。结果:我国广西正常人群SCA2等位基因CAG重复数为20～29次,1家系中2例患者与1例症状前患者存在SCA2(CAG)n扩展突变,拷贝数分别为42、45、55次。结论:首次发现广西SCA2,利用分子遗传学分析可进行SCA2基因诊断,为症状前诊断及遗传咨询提供依据。
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| 关 键 词： | 脊髓小脑性共济失调 基因突变 三核苷酸重复 |
Molecular Genetic Diagnosis and Clinical Analysis of Characteristics of Spinocerebellar Ataxia Type 2 |
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| WANG Jin,LI Gui-Bing,LUO Man,WANG Dong-Hui. Molecular Genetic Diagnosis and Clinical Analysis of Characteristics of Spinocerebellar Ataxia Type 2[J]. Chinese Journal of Clinical Neurosciences, 2009, 17(1) |
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| Authors: | WANG Jin LI Gui-Bing LUO Man WANG Dong-Hui |
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| Affiliation: | WANG Jin; LI Gui-Bing; LUO Man; WANG Dong-Hui Department of Gerontism Neurology; the First Affiliated Hospital of Guangxi Medical University; Nanning 530021; China; |
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| Abstract: | Aim:To study the molecular genetic diagnosis and clinical characteristics of spinocerebellar ataxia type 2(SCA2).Methods:This study includes 2 patients with autosomal dominant SCA from 1 family, 8 healthy individuals from the SCA family and 35 normal controls.The SCA2(CAG)n mutations were detected by polymerase chain reaction and agarose electrophoresis.The abnormal allele fragments were sequenced by sequencing machine.Results:Normal alleles of SCA2 were found to have 20 to 29 CAG repeats.Two SCA patients a... |
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| Keywords: | spinocerebellar ataxia gene mutation trinucleotide repeat |
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