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目的分析Nkx2-5基因在单纯性先天性心脏病(congenital heart disease,CHD)心肌组织中的突变及表达情况,探讨Nkx2-5基因突变、表达与单纯性CHD发生机制的关系。方法采用PCR-SSCP(单链构象多态性)方法对30例因CHD引产胎儿心脏组织进行Nkx2-5基因编码序列突变筛查;以β-actin为内对照,用RT-PCR方法检测Nkx2-5基因在单纯性CHD引产胎儿心肌组织中mRNA的表达情况。结果 30例单纯性CHD引产胎儿Nkx2-5基因2个外显子PCR产物经SSCP检测未发现突变;与正常对照心肌组织相比,单纯性CHD胎儿该基因mRNA表达呈下降趋势(P<0.05)。结论单纯性CHD中Nkx2-5基因编码区的体细胞突变可能不是单纯性CHD的致病机制;Nkx2-5基因转录水平异常可能是该基因参与CHD形成的一种潜在机制。
Objective To analyze the mutation and expression of Nkx2-5 gene in myocardium of simple congenital heart disease (CHD) and to investigate the relationship between the mutation of Nkx2-5 gene and the pathogenesis of simple CHD. Methods PCR-SSCP (single-strand conformation polymorphism) method was used to screen mutation of Nkx2-5 gene in fetal heart tissues of CHD patients induced by CHD. Β-actin was used as an internal control and RT-PCR was used to detect the expression of Nkx2- 5 Gene Expression in Fetal Myocardial Tissue of CHD Induced by Simple CHD. Results No abnormal mutation was found in the PCR products of 2 exons of Nkx2-5 gene in 30 fetuses with simple CHD. Compared with normal control myocardium, the expression of mRNA of 2 exons in simple CHD fetuses showed a decreasing trend (P <0.05) . Conclusion The somatic mutation of Nkx2-5 gene in simple CHD may not be the pathogenic mechanism of simple CHD. Abnormal transcription of Nkx2-5 may be a potential mechanism of this gene involved in the formation of CHD.