Expression And Clinical Significance Of DGCR8 In Congenital Heart Disease

Congenital heart disease(CHD)refers to the cardiovascular structure or function is abnormal at birth,it is an important cause of neonatal,infant disability and death.CHD is currently the first birth defects in our country.And the incidence of CHD in the world is rising,which is a major public health problem affecting children's physical and mental health and population quality of life.Therefore,it is very siginificant to improve the prenatal screening rate,reduce the incidence and improve the quality of the population.The etiology of congenital heart disease is various.At present,with the improvement of the research level,more and more attention has been paid to genetic factors.DGCR8(Di George syndrome critical region8)is one of genes monoallelic deleted on the human chromosome 22 qll.2 region that associates with Digeorge Syndrome(DGS).It is discovered that the absence of 22 qll can lead to congenital heart disease,abnormal facial features,incomplete development of the thymus glands,a certain degree of mental illness,etc.Recent studies have shown that DGCR8 is involved in the occurrence and development of many human diseases,however,there is few research on DGCR8 with congenital heart disease.To provide a new understanding of the role of DGCR8 and a new key for prenatal diagnosis of CHD.We researched he expression of DGCR8 in children of CHD.This study found that the low expression of DGCR8 is closely related to the occurrence of CHD.It also showed that there was no significant correlation between DGCR8 and atrial septal defect,ventricular septal defect and pulmonary hypertension.It reveal that DGCR8 has no influence on the further development and prognosis of CHD.Objective 1.we study on the expression of DGCR8 in children with CHD in clinical molecular and protein levels.In order to to explore the mechanism of DGCR8 and CHD,and then provide a new basis for prenatal diagnosis and a new screening index for clinical decision of CHD.2.To evaluate the feasibility of DGCR8 as a condition for further development and outcome of congenital heart disease,correlation analysis between clinical factors and DGCR8 in children with CHD is detected.Methods 1.q RT-PCR was used to detect the expression of DGCR8 in 40 blood cases of children with CHD and 40 of healthy children.2.Collect 25 cases of ventricular septal defect,16 cases of tetralogy of Fallot in children with myocardial tissue,the expression of DGCR8 m RNA was detected by q RT-PCR,and the expression of DGCR8 protein was detected by Western blot method.3.Study the correlation between DGCR8 and atrial septal defect,ventricular septal defect and pulmonary hypertension.4.Statistical Analysis-SPSS 21.0 software was used for data processing.Data shown reresent the Md(P25,P75).The two groups differences were analyzed using Wilcoxon test of two independent samples,qualitative datas use chi-square test.Spearman rank correlation analysis was used to analyze the correlation between DGCR8 and atrial septal defect,ventricular septal defect and pulmonary hypertension.P values < 0.05 was considered significantly.Results 1.Comparison of general information:age,sex of each group was tested by statistical test,there was no significant difference between any two(P>0.05)and be comparable.2.Lower expression of DGCR8 in children with CHD compared with healthy children,the two groups showed significant difference(P<0.05).3.In the myocardial tissue of children,the expression of DGCR8 in ventricular septal defect at the molecular level and protein level were higher than that of tetralogy of Fallot,differences were statistically significant(P<0.05).4.There was no correlation between DGCR8 and septal defect(r=-0.022,P>0.05)and pulmonary hypertension(P>0.05).The difference was no statistically significant.Conclusions 1.The DGCR8 is closely associated with congenital heart disease,it is an important factor leading to CHD.Its low expression may hinder the normal development of embryonic cardiac structure,blood vessels.And the expression of DGCR8 was more lower,the style of CHD is more complex.2.DGCR8 has no direct effect on the formation of septal defect and the formation of pulmonary hypertension in children with congenital heart disease.It has no obvious clinical significance to the further development and prognosis of CHD,it can not be used as an evaluation index.