| 甘肃地区一个遗传性痉挛性截瘫家系spastin基因的突变分析 |
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| 引用本文： | 王天成,沈海丽,裴世澄,王为民.甘肃地区一个遗传性痉挛性截瘫家系spastin基因的突变分析[J].兰州医学院学报,2008,34(2). |
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| 作者姓名： | 王天成 沈海丽 裴世澄 王为民 |
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| 作者单位： | [1]兰州大学第二医院神经内科 [2]兰州大学第二医院风湿免疫科,甘肃兰州730030 |
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| 摘 要： | 目的 对甘肃地区一个常染色体显性遗传性痉挛性截瘫(HSP)家系spastin基因突变进行分析.方法 应用聚合酶链反应一单链构象多态性结合DNA序列分析方法,检测该家系中9名患者spastin基因突变.结果 该家系中9名患者均出现异常单链构象多态性电泳带,经DNA测序证实为第8号外显子第1288位核苷酸存在碱基A被碱基G置换.结论 该家系HSP致病基因为spastin在第8号外显子第1 288位核苷酸发生错义突变,碱基A被碱基G置换,氨基酸改变K388R.
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| 关 键 词： | 遗传性痉挛性截瘫 聚合酶链式反应 spastin基因 基因突变 |
Analysis of spastin gene mutation in a hereditary spastic paraplegia pedigree of Gansu region |
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| WANG Tian-cheng SHEN Hai-li PEI Shi-cheng WANG Wei-min.Analysis of spastin gene mutation in a hereditary spastic paraplegia pedigree of Gansu region[J].Journal of Lanzhou Medical College,2008,34(2). |
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| Authors: | WANG Tian-cheng SHEN Hai-li PEI Shi-cheng WANG Wei-min |
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| Institution: | WANG Tian-cheng~1 SHEN Hai-li~2 PEI Shi-cheng~1 WANG Wei-min~1 (1.Department of Neurology,the Second Hospital of Lanzhou University,2.Department of Rheumatology,Lanzhou 730030,China) |
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| Abstract: | Objective To analyze spastin gene mutation in a hereditary spastic paraplegia pedi- gree of Gansu region.Methods 9 patients of the autosomal dominant hereditary spastic para- plegia family from Gansu were analyzed by polymerase chain reaction-single strand conformation polymorphism combined with DNA direct sequencing.Results All patients were found to have abnormal single strand conformation polymorphism bands,and A1288G in exon 8 were identified. Conclusion In this family,spastin is the disease-related gen... |
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| Keywords: | hereditary spastic paraplegia polymerase chain reaction spastin gene mutation |
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