Abstract：Objective To observe the mutation and expression of Nkx2.5 in congenital heart disease(CHD) with diminutive pulmonary blood , and to explore the association between Nkx2.5 gene and pathogenesis of CHD with diminutive pulmonary blood.Methods From May 2012 to May 2013, 56 cases of CHD with diminutive pulmonary blood from our department and Anhui Province Children Hospital were selected as the experimental group, 63 cases of ventricular septal defect were treated as control group. All patients were collected peripheral venous blood and hypertrophic myocardial tissue from right ventricular outflow tract in the operation, whose size was 0.5 cm×0.5 cm×0.5 cm cubic centimeter. Polymerase chain reaction combined with DNA sequencing technology was used to detect Nkx2.5 gene exon sequence, and whether Nkx2.5 gene mutation was associated with CHD with diminutive pulmonary blood was analyzed. Extraction of myocardial tissue RNA, the expression changes of Nkx2.5 gene mRNA was detected by real-time fluorescence quantitative polymerase chain reaction technique and made a statistical analysis between the two groups.Results Fifty-six cases of the experimental group and 63 cases of control group were not detected by Nkx2.5 gene mutations in the peripheral venous blood. The expression level in the experimental group about myocardial Nkx2.5 genes mRNA was significantly reduced compared with the control group, the difference was statistically significant(P＜0.01).Conclusions The Nkx2.5 gene mutation may be associated with multiple factors, the occurrence of CHD with diminutive pulmonary blood may be related with decline of Nkx2.5 gene expression in the myocardial tissue.
王康武,刘学刚,尹成果,丁力,施超,刘戈,张雷,王安生. Nkx2.5在肺血减少型先天性心脏病右室流出道心肌中突变及表达的意义[J]. 中华解剖与临床杂志, 2014, 19(3): 195-199.
Wang Kangwu, Liu Xuegang, Yin Chengguo, Ding Li, Shi Chao, Liu Ge, Zhang Lei, Wang Ansheng. Mutation and expression of Nkx2.5 in the right ventricular outflow tract myocardial of congenital heart disease with diminutive pulmonary blood. Chinese Journal of Anatomy and Clinics, 2014, 19(3): 195-199.
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