法乐四联症患儿NKX2.5、TBX5、GATA4基因的表达研究  

Genetic Reveal Study of NKX2.5,TBX5 and GATA4 Genes in Patients With Tetralogy of Fallot

作　　者：石琳[1,2] 李晓峰[1] 申阿东[1] 陆进[1] 柏松[1] 袁峰[1] 高国庆[1] 李仲智[1] 

机构地区：[1]首都医科大学附属北京儿童医院心脏中心,北京市100045 [2]首都儿科研究所,北京市100020

出　　处：《中国循环杂志》2009年第5期375-378,共4页Chinese Circulation Journal

基　　金：北京市科委重点项目(Y0204004040231)

摘　　要：目的:探讨NKX2.5、TBX5、GATA4基因与法乐四联症的发病关系及法乐四联症形成的分子机制。方法:10例法乐四联症患儿(法乐四联症组),为我院2005-06至2005-12心脏中心住院患儿。年龄4个月～8岁,平均3.5岁。6例非先天性心脏病(先心病)意外死亡患儿作为对照(对照组),均没有先心病病史和遗传病家族史。年龄4个月～9岁,平均年龄3.8岁。留取各病例右心室流出道心肌组织,提取心肌组织总RNA,逆转录为与RNA链互补的单链DNA(cDNA)。按照引物设计原则进行引物设计,用来扩增心肌组织NKX2.5、TBX5、GATA4、GAPDH mRNA目的片段。引物长度18bp～22bp,扩增片段长度163bp、206bp、237bp、203bp。应用双标准曲线、实时荧光定量聚合酶链反应(PCR)法比较NKX2.5、TBX5、GATA4基因的mRNA含量在对照组和法乐四联症组之间的统计学差异。结果:法乐四联症组的NKX2.5mRNA含量较对照组显著降低,差异有统计学意义。TBX5mRNA和GATA4mRNA含量在法乐四联症组与对照组的差异无统计学意义。结论:人心肌组织中有心脏发育相关基因NKX2.5、TBX5和GATA4mRNA的表达;法乐四联症可能与心肌组织中NKX2.5mRNA含量降低相关。Objective ：To investigate mRNA expression of cardiac related genes of NKX2. 5 ,TBX5 and GATAg in patients with tetralogy of fallot （TOF）. Methods ： A total of 10 TOF patients （ TOF group） from g months to 8 years with the mean age of 3.5 years were recruited in our hospital from June to December 2005. The patients were diagnosed by typical clinical manifestation and cardiac color echocardiagram, the diagnosis was confirmed by cardiac surgery. 6 non-congenital heart disease children were selected as Control group, and they were from 4 months to 9 years with the mean age of 3. 8 years. The myocardial total RNA was extracted, the related cDNA was obtained by RT-PCR. The product cDNA was amplified with fluorescent quantitative PCR in order to compare the differences of NKX2. 5 ,TBX5 ,GATA4 and GAPDH mRNA expression between TOF group and Control group. Results： NKX2. 5 mRNA expression in TOF group was statistically decreased than that in Control group, while there were no statistical changes found in TBX5 and GATA4 mRNA expression between TOF group and Control group. Conclusion ：The mRNA expression of NKX2. 5 ,TBX5 and GATA4 were found in myocardium development. TOF was possibly related to decreased NKX2. 5 mRNA expression.

关 键 词：NKX2.5基因 TBX5基因 GATA4基因 mRNA 法乐四联症 

分 类 号：R541[医药卫生—心血管疾病]