TXNIP基因多态性和启动子区的生物信息学分析  

Bioinformatics analysis of polymorphism and promoter region in TXNIP

作　　者：杨芳[1,2] 陈凤霞[1,2] 张文文[1,2] 管晓翔[1,2] 

机构地区：[1]南京大学医学院附属金陵医院 [2]南京军区南京总医院肿瘤内科,南京210002

出　　处：《癌症进展》2014年第3期216-220,共5页Oncology Progress

基　　金：国家自然科学基金(81272252);江苏省自然科学基金(BK2011656)

摘　　要：目的探究TXNIP的基因多态性和启动子区甲基化CpG岛、转录因子结合位点。方法利用生物信息学在线软件获得TXNIP基因3′UTR多态性和mRNA的表达情况；利用相关软件获得TXNIP启动子区序列，预测甲基化CpG岛及转录因子结合部位。结果TXNIP基因3′UTR多态性位点rs7211、rs7212和rs4755的不同基因型与mRNA表达差异有统计学意义（P〈0．05）；启动子区序列中甲基化CpG岛位于1763—1943bp处。结论利用生物信息学分析可以更有效地了解基因多态性和启动子区在基因表达调控中的作用。Objective To explore the TXNIP polymorphism in 3′UTR, the methylated CpG island and binding sites of transcription factor in its promoter region. Method The SNPs in TXNIP 3′UTR and their mRNA expressions were ob- tained via online bioinformatics software; And TXNIP promoter sequences were analyzed to predict methylated CpG island and the binding sites of transcription factors. Result The genotypes of SNPs in TXNIP 3′UTR, rs7211, rs7212 and rs4755, are significantly associated with the mRNA expression （ P〈0. 05 ） ; And the methylated CpG island in promoter region located on 1763-1943 bp. Conclusion With bioinformatics analysis, we can better understand the role of genetic polymorphism and the promoter region in the regulation of gene expression.

关 键 词：TXNIP 生物信息学分析 基因多态性 启动子区 甲基化 转录因子结合部位 

分 类 号：R730.2[医药卫生—肿瘤]