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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 investigate the gene expression of myocardial tissue in children with complete endocardial cushion defect (CECD). Methods Five children with CECD (CECD group) and 5 children with ventricular septal defect (VSD) were screened. Two groups of right atrial myocardium were excised. Gene microarray was used to detect gene expression. Differences, screening for differential genes. Results There were 10 genes (OXR1, IFT57, BTBD6, ZNF580, CHD2, LAMP1, MRC2, SLC16A2 , RAB5C, ANAPC13, CCDC50, TNS1, EPHA3, PDE1A, MIB2) were all significantly upregulated, but none of them reached the standard of screening differentially expressed genes. Conclusion The gene expression of myocardial tissue in children with CECD and VSD is similar, there is no significant difference between genes; CECD is a multi-gene genetic disease.