Nkx2.5基因在肺血减少型先天性心脏病右心室流出道心肌突变及表达中的意义  

Research on the Mutation and Expression of Nkx2.5 in Right Ventricular Outflow Tract Myocardial of Congenital Heart Disease Patients with Diminutive Pulmonary Blood

作　　者：王康武[1] 刘学刚[1] 王祖义[1] 尹成果[1] 丁力[2] 刁文杰 

机构地区：[1]蚌埠医学院第一附属医院胸心外科,安徽蚌埠233004 [2]安徽省立儿童医院心脏外科,合肥230000

出　　处：《中国胸心血管外科临床杂志》2016年第1期44-49,共6页Chinese Journal of Clinical Thoracic and Cardiovascular Surgery

基　　金：安徽省自然科学基金面上项目(1208085MH130);安徽省自然科学基金青年项目(1508085QH163);安徽省"十二五"科技攻关项目(1301042200)~~

摘　　要：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 observe the mutation and expression of Nkx2.5 in congenital heart disease patients with diminutive pulmonary blood. We preliminarily explored the association between Nkx2.5 gene and pathogenesis of congenital heart disease patients with diminutive pulmonary blood. Methods Fifty six patients of congenital heart disease with diminutive pulmonary blood in the First Affiliated Hospital of Bengbu Medical College and Anhui Province Children,s Hospital between May 2012 and May 2014 were as an experimental group. Sixty three patients of ventricular septal defect were as a control group. In the trial group, there were 30 males and 26 females averagely aged 5.82±4.23 years ranking from 6 months to 14 years. In the control group, there were 36 males and 27 females averagely aged 6.93±4.56 years ranking from 6 months to 14 years. Before operation, peripheral venous blood of all the patients were collected.We used polymerase chain reaction combined with DNA sequencing technology to detect Nkx2.5 gene exon sequence and to analyze the association between Nkx2.5 gene mutation and congenital heart disease with diminutive pulmonary blood. And we got some hypertrophic myocardial tissue from right ventricular outflow tract in the operation, whose size was 0.5×0.5×0.5 cubic centimeter. And we extracted myocardial tissue RNA. The expression changes of Nkx2.5 gene mRNA were detected by real-time fluorescence quantitative polymerase chain reaction technique. Results There was no mutations tested out in the peripheral venous blood in both two groups. The expression of mRNA in Nkx2.5 gene of thetrial group was lower than that in the control group with a statistical difference. Conclusion Nkx2.5 gene mutation may be associated with multiple factors. The occurrence of congenital heart disease with diminutive pulmonary blood may be related with a decline of Nkx2.5 gene expression in the myocardial tissue.

关 键 词：NKX2.5 先天性心脏病 肺血减少 基因突变 

分 类 号：R725.4[医药卫生—儿科]