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目的通过筛查HEXIM1基因在室间隔缺损(ventricular septal defect,VSD)外周血中的突变和心肌组织中的表达情况,探讨HEXIM1基因与VSD发病机制的关系。方法采用PCR-DNA测序技术对100例单纯性室间隔缺损的患儿外周血进行基因编码序列突变筛查;以β-actin为内对照,用RT-PCR方法检测HEXIM1基因在14例室间隔缺损引产胎儿中mRNA的表达情况。结果所有研究对象的HEXIM1基因测序后同GenBank人类HEXIM1编码序列进行比较,有3例患儿(单纯性室间隔缺损)分别存在单核苷酸的多态性(SNP);与正常心肌组织相比,VSD引产胎儿心肌组织中HEXIM1基因mRNA表达呈下降趋势(P<0.05)。结论本实验收集的病例标本中没有发现HEXIM1基因编码区的突变,基因转录水平异常可能是该基因参与VSD形成的一种潜在机制。
Objective To investigate the relationship between HEXIM1 gene and the pathogenesis of VSD by screening HEXIM1 gene for mutations in peripheral blood and ventricular myocardium in patients with ventricular septal defect (VSD). Methods 100 cases of simple ventricular septal defect were enrolled in this study. The mutation of HEXIM1 gene in 14 cases of ventricular septal defect was detected by RT-PCR using β-actin as internal control. Induction of fetal mRNA expression. Results All the HEXIM1 genes were sequenced and compared with the GenBank human HEXIM1 coding sequences. There were 3 single nucleotide polymorphisms (SNPs) in 3 children (simple ventricular septal defect), respectively. Compared with normal myocardium The mRNA expression of HEXIM1 in fetal heart muscle of VSD induced abortion decreased (P <0.05). Conclusion No mutation in coding region of HEXIM1 gene was found in the specimens collected from this study. The abnormal gene transcription may be a potential mechanism of this gene involved in the formation of VSD.