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| 遗传性痉挛性截瘫atlastin基因突变分析 | |
| 引用本文： | 陈昕 唐北沙 赵国华 李凤有 沈璐 严新翔 刘小民. 遗传性痉挛性截瘫atlastin基因突变分析[J]. 临床神经病学杂志, 2005, 18(5): 330-331 |
| 作者姓名： | 陈昕 唐北沙 赵国华 李凤有 沈璐 严新翔 刘小民 |
| 作者单位： | [1]现在广东医学院附属医院神经内科 [2]中南大学湘雅医院神经内科,长沙410008 [3]内蒙古医学院附属第三医院神经内科,长沙410008 |
| 基金项目： | 国家自然科学基金（30300199）;国家863计划项目（2004AA227040） |
| 摘 要： | 目的 探讨中国人遗传性痉挛性截瘫（HSP）atlastin基因的突变特点，为HSP的基因诊断奠定基础。方法 应用聚合酶链反应一单链构象多态性（PCR-SSCP）结合DNA序列分析方法，对来自全国20例常染色体显性遗传HSP家系的先证者和10例散发性HSP患者进行了atlastin基因突变分析。结果 在20例常染色体显性遗传HSP家系的先证者和10例散发性HSP患者中均未发现异常SSCP条带，第7号外显子直接DNA序列分析亦无异常。结论 atlastin基因突变可能在中国人HSP患者中少见。 |
| 关 键 词： | 遗传性痉挛性截瘫 atlastin基因 突变 |
| 文章编号： | 1004-1648（2005）05-0330-02 |
| 收稿时间： | 2004-10-25 |
| 修稿时间： | 2004-12-10 |
Mutation analysis of atlastin gene in patients with hereditary spastic paraplegia |
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| CHEN Xin, TANG Bei-sha, ZHAO Guo-hua,et al.. Mutation analysis of atlastin gene in patients with hereditary spastic paraplegia[J]. Journal of Clinical Neurology, 2005, 18(5): 330-331 | |
| Authors: | CHEN Xin TANG Bei-sha ZHAO Guo-hua et al. |
| Affiliation: | Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China |
| Abstract: | Objective To investigate the mutation characteristics of atlastin gene in Chinese patients with hereditary spastic paraplegia(HSP) and establish the base of gene diagnosis of HSP.Methods Mutation analysis of atlastin gene was made by use of polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) combined with DNA direct sequencing in 30 unrelated affected HSP individuals in China in which 20 cases were from autosomal dominant families and ten cases were sporadic HSP patients.Results No abnormal SSCP bands were found in the 30 individuals and the results of DNA direct sequencing were also normal.Conclusion Mutation of atlastin gene may be rare in Chinese HSP patients. |
| Keywords: | hereditary spastic paraplegia atlastin gene mutation |
| 本文献已被 CNKI 维普 万方数据 等数据库收录！ | |