COL4AI基因与脑白质疏松的关系研究  

Corelation of collagen type IV alpha 1 （COL4A1） gene with leukoaroaiosis in Chinese population

作　　者：石文磊[1,3] 王国强 董艳娟 陈飞[4] 李永琴 黄勇华 

机构地区：[1]陆军总医院神经内科,北京100700 [2]陆军总医院神经内科干部病房三科,北京100700 [3]解放军白求恩国际和平医院神经内科,石家庄050082 [4]解放军二五四医院神经科,北京300142

出　　处：《中华神经医学杂志》2016年第8期794-797,共4页Chinese Journal of Neuromedicine

基　　金：（1）基金项目：国家自然科学基金面上项目（81171100）（2）基金项目：陆军总医院创新基金（2015-LC-02）

摘　　要：目的通过目标基因捕获测序技术分析COL4AI基因与脑白质疏松（LA）的关系。方法选择陆军总医院神经内科自2012年3月至2014年9月间收治的11例影像学明确诊断的重度LA患者为研究对象，采用目标区域捕获结合高通量测序技术完成COL4AI基因及其调控区的变异位点筛查，通过Sanger测序的方法完成错义突变位点的验证工作，采用生物信息手段对变异位点进行功能生物学研究。结果共找到1691个变异位点，其中有2个错义突变（rs3742207、rs9515185）和6个同义突变。功能分析发现这2个错义突变对蛋白结构或功能并无影响。结论COL4A1基因可能与LA发病不相关。Objective Leukoaraiosis （LA） is a set of magnetic changes with white matter diffuse abormality, and it can be caused by brain small vessel disease. Recent studies showed that collagen type IV alpha 1 （COL4A 1） gene mutation as a single-gene disorder could cause cerebral small vessel disease. We aims to analyze the role of COL4A 1 gene mutations in Chinese patients with LA by targeted gene capture and high throughout sequencing technique. Methods Eleven patients with LA, conformed by imaging in our hospital from March 2012 to September 2014, were chosen in our study; COL4A1 gene mutations were screened using targeted genomic capture and high throughout sequencing strategy. Missense mutation of SNP loci were verified by Sanger method. Biological information of mutation loci were studied by means of funtional biology methods. Results A total of 1691 mutation sites were found, including two missense mutations （rs3742207 and rs9515185） and six synonymous mutations. By functional analysis, these two missense mutations showed no effect on protein structure or function. Conclusion COI,4A 1 gene may be irrelevant with incidents of LA in Chinese patients.

关 键 词：脑白质疏松 COL4A1基因 捕获测序技术 

分 类 号：R742[医药卫生—神经病学与精神病学]