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目的观察Nkx2.5基因(同源盒转录因子)在肺血减少型先天性心脏病患者中的突变及表达变化,探讨Nkx2.5基因在右心室流出道梗阻发生中的分子调控机制。方法选取2012年5月至2014年5月蚌埠医学院第一附属医院与安徽省立儿童医院心脏外科收治的56例肺血减少型先天性心脏病患者为试验组,选取同期收治的63例室间隔缺损患者为对照组。试验组男30例、女26例;年龄6个月~14(5.82±4.23)岁。对照组男36例、女27例,年龄6个月~14(6.93±4.56)岁。收集所有患者术前外周静脉血5 ml,采用聚合酶链反应结合DNA测序技术对Nkx2.5基因的外显子进行序列检测,观察有无Nkx2.5基因突变;留取术中右心室流出道肥厚心肌组织0.5 cm×0.5 cm×0.5 cm,提取心肌组织RNA,应用实时荧光定量聚合酶链反应技术检测心肌中Nkx2.5基因mRNA的表达情况,分析Nkx2.5基因与肺血减少型先天性心脏病的关系。结果试验组与对照组外周静脉血中均未检测出基因突变,试验组心肌中Nkx2.5基因mRNA表达水平较对照组降低,差异有统计学意义(P<0.01)。结论Nkx2.5基因突变可能与多因素有关,肺血减少型先天性心脏病的发生可能与心肌组织中Nkx2.5基因表达下降有关。
Objective To investigate the mutation and expression of Nkx2.5 gene (homeobox transcription factor) in patients with congenital heart disease with pulmonary hypoperfusion and to explore the molecular mechanism of Nkx2.5 gene in the development of right ventricular outflow tract obstruction. Methods From May 2012 to May 2014, 56 patients with congenital heart disease with pulmonary hypoperfusion admitted to the First Affiliated Hospital of Bengbu Medical College and Anhui Provincial Children’s Hospital were selected as the experimental group. 63 cases Patients with septal defect as control group. The test group, 30 males and 26 females; aged 6 months to 14 (5.82 ± 4.23) years. Control group, 36 males and 27 females, aged 6 months to 14 (6.93 ± 4.56) years of age. All patients were collected peripheral venous blood 5 ml, the use of polymerase chain reaction with DNA sequencing technology to detect the exon of Nkx2.5 gene sequence to observe the presence or absence of Nkx2.5 gene mutation; surgery right ventricular outflow tract Hypertrophic myocardium 0.5 cm × 0.5 cm × 0.5 cm, myocardial tissue RNA was extracted, the expression of Nkx2.5 mRNA in myocardium was detected by real-time fluorescence quantitative polymerase chain reaction, and the relationship between Nkx2.5 gene and pulmonary blood reduced congenital Heart disease. Results No gene mutation was detected in the peripheral venous blood of the experimental group and the control group. The mRNA expression of Nkx2.5 in the experimental group was lower than that in the control group (P <0.01). Conclusions The mutation of Nkx2.5 may be related to many factors. The incidence of pulmonary congenital heart disease may be related to the decrease of Nkx2.5 gene expression in myocardium.