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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DGCR8mRNA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。
Objective: To investigate the relationship between the risk of congenital heart disease (CHD) and the genetic risk factor (DGCR8) in patients with DiGeorge syndrome and its clinical significance. Methods: 40 samples of CHD children and healthy children were collected. The expression of DGCR8 mRNA was detected by qRT-PCR. 25 children with ventricular septal defect (VSD), 25 children with tetralogy of Fallot (TOF) The expression of DGCR8 mRNA and protein was detected by qRT-PCR and Western blot. The correlation between the expression of DGCR8 and the size of cardiac septal defect in children with septal defect was analyzed. Results: Compared with healthy children, the expression of DGCR8 mRNA decreased in children with CHD (P = 0.037). Compared with children with VSD, the expression of DGCR8 mRNA and protein in TOF children decreased (P <0.05 ). There was no significant correlation between DGCR8 and cardiac septal defect (rS = -0.022, P = 0.917). Conclusion: The deletion of DGCR8 gene is associated with the occurrence of CHD, affecting the normal development of the heart.