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目的研究多个先天性心脏病相关基因SNP位点与胎儿复杂先天性心脏病发生的关系。方法选取2011年6月至2013年3月于北京大学人民医院妊娠中期或晚期超声胎儿系统筛查诊断为先天性心血管畸形并行脐静脉穿刺者为先心组共30例,终止妊娠前行脐静脉穿刺留取胎儿脐血3～5ml,同时留取胎儿父母静脉血3～5ml。按1∶2随机选取同时期正常分娩病例60例作为对照,分娩时留取脐静脉血3～5ml。所有留取静脉血均提取基因组DNA,检测所选择60个基因位点突变情况。结果本研究发现突变位点主要集中在TBX20、GATA4、GATA6、GLI1、CRELD 15个基因中,它们可能是北京附近人群的高突变基因。GLI1基因2101G>A的杂合突变结果具有统计学意义,且与父母遗传相关性小,提示该基因位点的突变可能与先心病的发病密切相关。结论北京附近人群的高突变基因为TBX20、GATA4、GATA6、GLI1、CRELD1,GLI1基因2101G>A的杂合突变可能与先心病的发病相关度较高。多突变位点联合作用是否增加先心病发病风险还需扩大样本进一步研究。
Objective To study the relationship between multiple SNPs related to congenital heart disease and fetal complicated congenital heart disease. Methods From June 2011 to March 2013, 30 cases of congenital cardiovascular malformation were enrolled in Peking University People’s Hospital during the third trimester of pregnancy or in the late stage of pregnancy. Venous puncture fetus fetus umbilical cord blood 3 ~ 5ml, while fetus fetus parental blood 3 ~ 5ml. According to 1: 2, 60 cases of normal delivery during the same period were randomly selected as controls, 3 to 5 ml of umbilical venous blood was collected during childbirth. Genomic DNA was extracted from all venous blood samples and the mutation of 60 selected loci was detected. Results The study found that the mutation sites were mainly located in 15 genes of TBX20, GATA4, GATA6, GLI1 and CRELD, which may be highly mutated genes in the population around Beijing. The results of heterozygous mutation of GLI1 gene 2101G> A were statistically significant and had little genetic correlation with their parents, suggesting that the mutation of this gene may be closely related to the pathogenesis of CHD. Conclusion The heterozygous mutation of TBX20, GATA4, GATA6, GLI1, CRELD1 and GLI1 gene 2101G> A in Beijing may be associated with the higher incidence of CHD. Whether the combination of multiple mutation sites increases the risk of developing congenital heart disease needs to be further expanded.