散发性肌萎缩侧索硬化与运动神经元生存基因缺失的关系  

Investigation of survival motor neuron gene deletion in Chinese patients with sporadic amyotrophic lateral sclerosis

作　　者：苏宗权[1] 甘世锐[2] 吴志英[2] 陈万金[1] 陈嬿[2] 王柠[1] 慕容慎行[1] 吕传真[2] 

机构地区：[1]福建医科大学附属第一医院神经内科,福州350005 [2]复旦大学附属华山医院神经内科

出　　处：《中华神经科杂志》2009年第4期245-247,共3页Chinese Journal of Neurology

基　　金：基金项目：福建省高校创新团队培育计划资助项目（FMU-RT002）;福建医科大学教授学术发展基金资助项目（J56037）;复旦大学特聘教授华山医院配套基金资助项目（其他6）

摘　　要：目的探讨我国散发性肌萎缩侧索硬化（SALS）与运动神经元生存基因（SMN）缺失之间的关系。方法收集141例SALS患者和134名健康对照的外周静脉血并抽提DNA，应用聚合酶链反应．限制性片段长度多态性（PCR-RFLP）进行SMN基因缺失筛查。缺失频率的比较采用卡方检验分析。结果4例SALS患者和3名健康对照分别检出SMN2基因第7、8号外显子纯合缺失，缺失频率分别为2．84％（4／141）和2．24％（3／134），差异无统计学意义（Х^2=0．0001，P=1．000）。此外，所有研究对象均未检出SMN1基因纯合缺失。结论SMN基因纯合缺失与我国SALS患者之间无明显相关性。Objective To investigate the correlation between survival motor neuron （SMN） gene deletion and Chinese patients with sporadic amyotrophie lateral sclerosis （SALS）. Methods A total of 141 SALS patients and 134 unrelated controls were recruited from the Chinese population. Polymerase chain reaction （PCR） and restriction fragment length polymorphism （RFLP） analysis were performed to screen SMN gene deletion. Frequencies of deletion were compared by Chi-square test. Results Four patients and 3 controls were detected to have homozygous SMN2 deletion. The frequencies of SMN2 deletion were 2. 84% （4/141） and 2. 24% （3/134）, respectively, which was not significantly different （Х^2=0. 0001, P = 1. 000）. No subjects were found to have homozygous SMN1 deletion. Conclusion There is no correlation between SMN gene deletion and Chinese patients with SALS.

关 键 词：肌萎缩侧索硬化 运动神经元 基因缺失 神经组织蛋白质类 RNA结合蛋白质类 CAMP反应元件结合蛋白质 

分 类 号：R686[医药卫生—骨科学]