基因芯片筛选完全型心内膜垫缺损患儿心肌组织差异表达基因研究  

Gane chip for screening differential genes of myocardial tissue in pediatric patients with complete endocardial cushion defect

作　　者：李志强[1] 刘扬[1] 朱耀斌[1] 刘爱军[1] 李刚[1] 李晓峰[1] 苏俊武[1] 刘迎龙[1] 

机构地区：[1]首都医科大学附属北京安贞医院小儿心脏中心,北京100029

出　　处：《中华实用诊断与治疗杂志》2014年第2期116-118,共3页Journal of Chinese Practical Diagnosis and Therapy

基　　金：北京市自然科学基金资助项目(7112046);北京市卫生系统高层次卫生技术人才(领军人才;2011-1-4);北京市科技计划项目(Z111100074911001)

摘　　要：目的探讨完全型心内膜垫缺损(complete endocardial cushion defect,CECD)患儿心肌组织基因的表达情况。方法CECD患儿5例(CECD组)与室间隔缺损(ventricular septal defect,VSD)患儿5例(对照组),2组剪取右心房心肌组织,应用基因芯片技术检测基因表达情况,比较二者差异,筛查差异基因。结果 2组存在10个基因(HCK、WLS、ATG4D、GPATCH2、LARS2、XIAP、DDX56、MED16、UBE2W、C8orf49)明显下调;15个基因(OXR1、IFT57、BTBD6、ZNF580、CHD2、LAMP1、MRC2、SLC16A2、RAB5C、ANAPC13、CCDC50、TNS1、EPHA3、PDE1A、MIB2)明显上调,但均未达到筛选差异基因的标准。结论 CECD与VSD患儿心肌组织基因表达情况近似,不存在有意义的差异基因;CECD是一种多基因的遗传性疾病。Objective To screen the differential genes of myocardial tissue in pediatric patients with complete endocardial cushion defect （CECD）. Methods Five children with CECD （CECD group） and another 5 children with ventricular septal defect （VSD） （VSD group） were collected myocardium specimens from the right atrium. The expressions of genes were detected by gene chip and were compared between two groups to screen the differential genes. Results Ten genes were downregulated including HCK, WLS, ATG4D, GPATCH2, LARS2, XIAP, DDX56, MED16, UBE2W and C8orf49, and 15 were upregulated including OXR1, IFT57, BTBD6, ZNF580, CHD2, LAMP1, MRC2, SLC16A2, RAB5C, ANAPC13, CCDCS0, TNSI, EPHA3, PDE1A and MIB2, which did not reach the standard of screening differential genes. Conclusions Approximate gene expression exists in the myocardium specimens in CECD and VSD, and there is no significant differential gene, suggesting that CECD is a polygenic disease.

关 键 词：完全性心内膜垫缺损 基因芯片 基因表达 基因 

分 类 号：R440[医药卫生—诊断学] R725.4[医药卫生—临床医学]