地中海贫血相关基因的生物信息学研究-第三军医大学学报.doc

PAGE PAGE 4 地中海贫血相关基因的生物信息学研究 高天作者简介：高 天（1978-），女，黑龙江齐齐哈尔人，博士研究生，医师，主要从事产前诊断方面的研究。电话讯作者：梁志清，电话（023E-mail: zhi.lzliang@ 梁志清1 聂艳丽2 张亮2 朱虹琳2 吴伟静2 作者简介：高 天（1978-），女，黑龙江齐齐哈尔人，博士研究生，医师，主要从事产前诊断方面的研究。电话通讯作者：梁志清，电话（023E-mail: zhi.lzliang@ 摘要: 目的 用基因芯片及生物信息学的方法确定地中海贫血的相关基因, 探讨地中海贫血发生的分子机理。方法 利用含有人约22000个基因的长寡核苷酸芯片, 检测地中海贫血患儿脐血与正常脐血基因差异性的表达情况, 采用非监督聚类( Hierarchical clustering)等方法发现统计学意义上差异表达的基因, 通过MAS系统中的pathway、GO (gene ontology) 确定这些基因所属的功能群体, 探讨其在地中海贫血发生发展中的重要作用。结果 生物信息学分析表明, 两者差异表达基因共251条（ratio≥2.0或≤0.5）, 其中上调基因159条，下调基因92条。结论 与正常脐血相比, 地中海贫血发生过程中有多个基因的表达发生了明显地改变, 其中与信号转导及细胞组分的合成等相关基因表达的改变可能在地中海贫血发生发展中发挥重要作用。 关键词: 地中海贫血; 基因表达; 基因芯片; 信号转导；生物信息学 Bioinformatics Analysis of Genes Involved in Thalassemia GAO Tian1, LIANG Zhi-qing1, NIE Yan-li2, ZHANG Liang2, ZHU Hong-lin2 WU Wei-jing2 HU Hua1 (1 Department of Pathology, Southwest Hosp ital, Third Military Medical University, Chongqing 400038, 2 National Engineering Research Center for Beijing Biochip Technology, Beijing 102206, China) Abstract: Objective To identify the hematopoietic-related genes by genome-wide microarray analysis and bioinformatics, and to investigate the molecular mechanism of the development of thalassemia. Methods The expression of different genes in thalassemia and normal one were detected by 70-meroligonucleotide microarray technique. The significantly differently expressed genes were identified by unsupervised Hierarchical clustering and so on. Their gene products were analyzed by pathway and GO terms in the system of MAS. Results A total of 251 genes of thalassemia was regulated significantly compared to normal bile duct(ratio≥2.0or≤0.05). Of them , 159 genes were upregulated and 92 genes were downregulated in both groups. Conclusions Several genes are obviously differently expressed during the development of thalassemia. The abnormal expression of genes related to thalassemia may play a major role. Key words: thalassemia;Gene;DNA microarry;signal