应用基因芯片技术筛选克山病差异表达基因  

Microarray-based gene expression profiles related to Keshan disease

作　　者：王斌[1] 何淑兰[1] 雷艳霞[1] 谭武红[1] 张峰[1] 王盼[1] 朱延河[1] 郭雄[1] 

机构地区：[1]西安交通大学医学院公共卫生系,环境与疾病相关基因教育部重点实验室,陕西西安710061

出　　处：《西安交通大学学报（医学版）》2014年第2期163-168,共6页Journal of Xi’an Jiaotong University（Medical Sciences）

基　　金：陕西省"13115"科技创新工程重大科技专项基金(No.2009ZDKG-79);国家自然科学基金资助项目(No.81273008)~~

摘　　要：目的应用基因芯片技术筛选克山病(Keshan disease,KD)患者和正常对照者外周血差异表达基因并对其进行分析,探讨KD发病的分子机制。方法收集16例KD患者和16例病区健康对照外周血样品,提取总RNA,纯化后合成cRNA探针;采用Agilent全基因组表达芯片检测基因表达的差异,以SAM4.0软件,结合IPA软件比较KD患者和正常对照个体外周血中的基因表达谱差异、功能及通路分析。结果与对照组相比,KD患者血样中差异表达基因上调的有59个,下调的有19个,基因功能主要涉及代谢、转录、离子通道与运输蛋白、蛋白质的合成与修饰、信号转导等;生物功能主要涉及细胞凋亡、细胞功能修复、分子转运、细胞增殖和分化、细胞间信号转导等。网络蛋白介导的内吞作用是差异最显著的通路。结论 KD患者外周血单核淋巴细胞多个差异表达基因显著不同于正常人,主要涉及细胞增殖、细胞凋亡、细胞功能修复等,这些基因可能在克山病发生发展中发挥重要的作用。Objective To screen the different genes expressed in peripheral blood between Keshan disease （KD） patients and normal people by gcne chips to further explore the molecular mechanism of KD. Methods Peripheral blood samples were collected for total RNA from 16 KD patients and 16 normal human subjects in endemic area. Agilent whole genome microarray, single gene analyses of SAM4.0 and Pathway analyses of IPA were made to compare the gene expression profiles between KD patients and healthy controls. Fluorescence quantitative RT-PCR was used to validate the results of gene chip. Results The results showed that in the blood samples of KD patients, 59 genes were up-regulated and 19 ones were down-regulated. The genc functions were mainly involved in metabolism, transcription, ion channels and transport protein, synthesis and modification of protein, and cell-to-cell signal transduction. IPA analysis showed that cell endocytosis mediated by network protein was the signal pathway that was most significantly different between KD patients and normal controls. Conclusion A number of KD peripheral blood mononuclear lymphocytes differentially expressed genes are significantly different from those of normal people. These genes are mainly involved in cell proliferation, apoptosis and cell function restoration, and may play an important role in the development of KD.

关 键 词：克山病 基因芯片 差异表达基因 外周血 

分 类 号：R542.3[医药卫生—心血管疾病]