结节性硬化症与难治性癫痫相关基因的生物信息学分析  

Bioinformatic analysis of genes related to tuberous sclerosis complex and refractory epilepsy

作　　者：周烨[1] 于云红 鲍勇[3] 谢炜 李长征 

机构地区：[1]南方医科大学基因工程研究所,广州510515 [2]中医药学院 [3]安徽省六安市中医院脑病二科,237006

出　　处：《中华神经医学杂志》2011年第8期794-796,共3页Chinese Journal of Neuromedicine

基　　金：广东省医学科研基金（B2009135）

摘　　要：目的用生物信息学方法探讨结节性硬化症与难治性癫痫的发病相关基因，为癫痫的基础研究和临床治疗提供新思路。方法从基因芯片公共数据库Gene Expression Omnibus（GEO）中下载结节性硬化症与难治性癫痫相关基因芯片数据，利用String、KEGG、Panther等在线分析软件对差异表达基因进行生物信息学分析。结果在100个差异表达基因所编码的蛋白中，有47个蛋白与其他蛋白存在相互作用关系，作用过程涉及多种生物学通路，与多个生物学过程和分子功能相关。结论结节性硬化症与难治性癫痫这二者发病是多种基因相互作用的结果，其中与GFAP、ANXAA2和S100A10等关系最为密切。Objective To investigate the genes associated with tuberous scleroses complex and refractory epilepsy with bioinformatics methods to provide new ideas for the basic research and clinical treatment of epilepsy. Methods The microarray data of tuberous scleroses complex and refractory epilepsy were downloaded from the Gene Expression Omnibus （GEO） database and analyzed by bioinformatics methods using String, KEGG and Panther databases. Results Of all the 100 differentially expressed genes, 47 were found to encode proteins with interactions; they involved to multiple biological pathways, biological processes and molecular functions. Conclusion The pathogenesis of tuberous scleroses complex and refractory epilepsy involves multiple genes, such as GFA P, A NXA 2 and S100A 10.

关 键 词：结节性硬化症 癫痫 基因芯片 生物信息学 

分 类 号：R742.1[医药卫生—神经病学与精神病学]