单纯性法洛四联症TBX1基因的表达研究

目的分析TBX1基因与单纯性法洛四联症的相关性。方法应用聚合酶链反应-变性梯度凝胶电泳方法对2005年3月至2009年5月沈阳军区总医院收治的100例法洛四联症患者TBX1基因突变情况进行分析;以β-actin为内对照,半定量RT-PCR分析32例法洛四联症患者TBX1基因表达情况。结果所有患者TBX1基因9个外显子未发现致病突变,TBX1基因mRNA表达水平明显低于正常对照(P<0.001)。结论 TBX1基因编码区的突变可能不是单纯性法洛四联症的致病原因而该基因转录水平的异常可能是参与其发生的一种潜在机制。

Mutation screening and expression analysis of TBX1 gene in human simple tetralogy of fallot

Objective To determine the relationship between TBX1 gene and simple tetralogy of Fallot(TOF). Methods Mutation screening of TBX1 gene was done by PCR-DGGE in 100 simple TOF patients.At the same time,expression analysis of TBX1 gene was completed in 32 simple TOF patients by semi-quantitative RT-PCR using β-actin as the internal control. Results No mutations in 9 exons of TBX1 gene were found in all 100 patients;the mRNA expression of TBX1 gene in simple TOF patients was remarkably lower than that in normal controls(P<0.001). Conclusion Mutations in the coding region of TBX1 gene might not be the cause of TOF,and the abnormal expression of TBX1 gene may be the potential mechanism in the pathogenesis of TOF.