散发性肌萎缩侧索硬化患者Senataxin基因的突变检测和分析  

Mutation analysis of senataxin gene in sporadic amyotrophic lateral sclerosis

作　　者：熊慧玲[1] 陈文族[1] 吴志英[2] 赵振华[1] 王柠[1] 林珉婷[1] 慕容慎行[1] 

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》2010年第2期90-92,共3页Chinese Journal of Neurology

基　　金：基金项目：福建医科大学教授学术发展基金资助项目（JS6037）;福建省高校创新团队培育计划资助项目（FMU-RT002）

摘　　要：目的探讨散发性肌萎缩侧索硬化（SALS）患者Senataxin（SETX）基因突变特点。方法采用聚合酶链反应（PCR）扩增60例SALS患者SETX基因的26个外显子，应用直接基因测序法筛查其突变和多态，同时与200名健康对照进行比较。结果我们检出2个新的同义突变，分别为Asp844Asp（GAC→GAT）和Phe998Phe（TTC→TTT）。尽管在200名健康对照中未检出这2个同义突变，但经过不同物种间的同源序列比对，发现这2个序列不是保守序列，提示它们不是致病性突变。除此之外，我们还检出了19个多态。结论我们发现了SETX基因的2个同义突变和19个多态，进一步扩大了SETX基因的突变谱和多态谱。Objective To investigate the spectrum of senataxin gene mutations in Chinese patients with sporadic amyotrophic lateral sclerosis （SALS）. Methods Sixty sporadic SALS patients and 200 unrelated normal individuals were screened for mutations of senataxin by PCR-sequeneing methodology. Results Two silent mutations, Asp844Asp and Phe998Phe, were identified in two SALS patients, respectively. They were not found in controls. However, a homology search of senataxin gene in different species revealed that these two amino acids were not evolutionarily conserved, indicating that the mutations were not pathogenic. Additional 19 polymorphisms were detected. Conclusion The identification of two silent mutations and 19 polymorphisms has further broadened the spectrum of mutations and polymorhpisms in senataxin.

关 键 词：肌萎缩侧索硬化 RNA解螺旋酶类 突变 多态现象 遗传 

分 类 号：R744[医药卫生—神经病学与精神病学]