单核苷酸多态性与先天性室间隔缺损相关性的初步研究儿科学专业论文.docx

PAGE PAGE IV The initial research of SNPs in congenital ventricular septal defect Abstract The initial research of SNPs in congenital ventricular septal defect Abstract Objective:In this study,it takes patients with congenital ventricular septal defect as the object and normal children as control.And at the same time,surveys to the parents of CHD patients and normal children are to explore the risk factors of CHD and to provide a reference for the etiology research and prevention of CHD. Methods： Use PCR-DNA sequencing technology to detect exonⅠof the gene NKX2-5 in the 43 cases of VSD and 188 normal children; use SNaPshot genotyping technology to detect 13 SNPs of 11 enzyme genes related to folic acid metabolism of 43 cases of VSD and 188 normal children; survey the parents of 116 CHD patients and 161 controls about the risk factors of CHD with interview-style. And do statistical analysis about the results. Results： No mutation was found in the exon Ⅰof the Nkx2-5 gene,While we found an AtoG transition at nucleotide 63(Glu21Glu).Further study presented that there were no statistic differences of the genetype frequency and allele frequency between ventrial septal defect patients and normal controls,P＞0.05. No mutation was found in MTHFD-G878A.No GG genetype was found in CBS-C699T.SNP RFC1-G80A might increase the risk of VSD, and DHFR-c594+59del19 might decrease the risk of VSD. The ratios of the two SNPs between ventrial septal defect patients and normal controls are of statistic differences:the AA genotype of FC1-G80A,OR=4.47(95%CI=[1.60,12.48],P0.05);the GG genotype of DHFR-c594+ 59del19, OR=0.39(95%CI=[0.15,0.98],P0.05). Using logistic regression analyze the risk factors (variables) in the questionnaires. The mother catching a cold or not during the early pregnancy (B = -0.988, Wald = 9.463, P = 0.002), whether there are maternal CHD family history (B = -2.423, Wald = 8.780, P = Abstract The initial research of SNPs in congenital ventricular septal def