应用基因芯片技术筛选人脑动静脉畸形差异表达基因的研究  

Screen of differential genes expression in brain arteriovenous malformation with application of genome microarray techniques

作　　者：孟国路[1] 刘星[1] 费小斌[2] 王硕[1] 赵元立[1] 于腾飞[1] 曹勇[1] 赵继宗[1] 

机构地区：[1]首都医科大学附属北京天坛医院神经外科,100050 [2]东南大学医学院附属江阴医院神经外科

出　　处：《中华神经外科杂志》2014年第6期600-603,共4页Chinese Journal of Neurosurgery

基　　金：北京市科技新星计划（2006B50）

摘　　要：目的通过基因芯片技术，筛选并确定在人脑动静脉畸形中差异表达的基因，探讨脑动静脉畸形的发病机理。方法收集首都医科大学附属北京天坛医院手术切除的9例脑动静脉畸形患者标本，采用9例行颞前叶切除的癫痫患者，脑组织切除后，经显微分离的血管样本作为对照。分别提取组织中的总RNA，逆转录合成cDNA，荧光分子标记后，与人类全基因组芯片进行杂交，挑选差异表达的基因，并采用实时反转录聚合酶链式反应（RT—PCR）实验对差异表达的基因进行验证。结果共筛选出47个有统计学意义的差异表达基因，其中表达上调的37个，表达下调的10个。差异表达基因涉及细胞粘附分子、紧密连接、细胞骨架调节、MAPK信号通路等方面。结论脑动静脉畸形与对照血管相比有明显基因表达差异，上调基因VCAN、SPARC、ARHGAP18及下调基因DUSP2等的异常表达可能参与脑动静脉畸形的形成和发展。Objective To screen differential genes expression in brain arteriovenous malformations （AVMs） with the help of genome microarray techniques in order to identify the pathogenesis of AVMs. Methods 9 samples taking from AVMs patients received surgical therapy and 9 control brain vessel samples from temporal lobectomy for the treatment of medically intractable seizures were collected. The total RNA was isolated and transcribed into cDNA reversely. And the synthesized cRNA was hybridized with human genome oligo microarray after labeling with Cy3. The SAM （ Significant Analysis of Microarray） software was used to screen the differentially expressed gene and those genes were analyzed by molecule annotation system （MAS） 3.0. RT - PCR technique was used to test the differentially expressed genes. Results 47 genes met the statistical significance criteria, and were identified as differentially expressed. Among them 37 genes were up - regulated and 10 genes were down - regulated. Those genes were majorly involved in the process such as cell adhesion molecules, tight junction, regulation of actin cytoskeleton and MAKP signaling pathway. Conclusions Brain AYMs have significant differentially expressed genes in contrast to vessels from the control samples. Multiple genes and signaling pathways may be involved in the process of AVMs＇ genesis and development. The up - regulated genes VCAN, SPARC, ARHGAP18 and down- regulated gene DUSP2 may have an important significance in the process of AVM＇s genesis and development.

关 键 词：脑动静脉畸形 基因组芯片 实时反转录聚合酶链式反应 

分 类 号：R743.4[医药卫生—神经病学与精神病学]