DGCR8在先天性心脏病患者血液及心肌组织中的表达*
Expression of DGCR8 in blood samples and myocardial tissue from children with congenital heart disease

目的:探讨迪乔治综合征危象区基因8(DGCR8)与先天性心脏病(CHD)发生的关系及临床意义。方法:收集CHD患儿及健康儿童血液样本各40份,采用qRT-PCR方法检测DGCR8 mRNA的表达; 收集室间隔缺损(VSD)患儿心肌组织25份,法洛四联症(TOF)患儿心肌组织16份,采用qRT-PCR和Western blot方法检测DGCR8 mRNA和蛋白的表达,分析间隔缺损患儿血液中DGCR8的表达水平与心脏间隔缺损大小的相关性。结果:与健康儿童相比,CHD患儿血液中DGCR8 mRNA的表达量降低(P=0.037); 与VSD患儿相比,TOF患儿心肌组织中DGCR8 mRNA和蛋白的表达量降低(P＜0.05); DGCR8与心脏间隔缺损无明显相关性(rS=-0.022,P=0.917)。结论:DGCR8基因的缺失与CHD的发生有关,影响心脏的正常发育。
Aim: To explore the expression and clinical significance of DGCR8 in children with congenital heart disease(CHD).Methods: The blood samples of 40 children with CHD and 40 healthy children were collected,respectively.qRT-PCR method was used to detect the expression of DGCR8 mRNA. The expression of DGCR8 in myocardial tissue from 25 children with ventricular septal defect(VSD)and 16 children with tetralogy of Fallot(TOF)was detected by qRT-PCR and Western blot,and the correlation between DGCR8 and septal defect was analyzed.Results: Compared with healthy children, the expression of DGCR8 in blood from children with CHD was decreased(P=0.037).The expressions of DGCR8 mRNA and protein in myocardial tissue from those with TOF were lower compared with VSD(P＜0.05).There was no significant correlation between DGCR8 and the septal defect(rS=-0.022, P=0.917).Conclusion: The deletion of DGCR8 gene is associated with the development of CHD and affects the normal development of the heart