【摘要】：目的:探討迪喬治綜合征危象區(qū)基因8(DGCR8)與先天性心臟病(CHD)發(fā)生的關(guān)系及臨床意義。方法:收集CHD患兒及健康兒童血液樣本各40份,采用qRT-PCR方法檢測DGCR8 mRNA的表達;收集室間隔缺損(VSD)患兒心肌組織25份,法洛四聯(lián)癥(TOF)患兒心肌組織16份,采用qRT-PCR和Western blot方法檢測DGCR8mRNA和蛋白的表達,分析間隔缺損患兒血液中DGCR8的表達水平與心臟間隔缺損大小的相關(guān)性。結(jié)果:與健康兒童相比,CHD患兒血液中DGCR8 mRNA的表達量降低(P=0.037);與VSD患兒相比,TOF患兒心肌組織中DGCR8 mRNA和蛋白的表達量降低(P0.05);DGCR8與心臟間隔缺損無明顯相關(guān)性(rS=-0.022,P=0.917)。結(jié)論:DGCR8基因的缺失與CHD的發(fā)生有關(guān),影響心臟的正常發(fā)育。
[Abstract]:Objective: to investigate the relationship between DGCR8 gene and congenital heart disease (CHD) and its clinical significance. Methods: the expression of DGCR8 mRNA was detected by qRT-PCR in 40 children with CHD and 40 healthy children, 25 patients with ventricular septal defect (VSD) and 16 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 level 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 in the blood of CHD children was decreased (P0. 037), and the expression of DGCR8 mRNA and protein in myocardial tissue of children with TOF was lower than that in children with VSD (P0.05). There was no significant correlation between DGCR8 mRNA expression and cardiac septal defect (rS- 0.022P0.917). Conclusion the deletion of the DGCR8 gene is related to the occurrence of CHD and affects the normal development of the heart.
【作者單位】： 鄭州大學第三附屬醫(yī)院婦產(chǎn)科;田納西大學健康科學中心病理醫(yī)學實驗室;河南省人民醫(yī)院兒童心臟中心;河南省婦科腫瘤納米醫(yī)學國際聯(lián)合實驗室;
【基金】：國家自然科學基金面上項目81572574 河南省高校科技創(chuàng)新團隊項目16IRTSTHN018 鄭州大學創(chuàng)新項目DYCX053
【分類號】：R725.4

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