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目的分析FGF16基因在中国单纯性室间隔缺损(ventricular septal defect,VSD)患儿外周血中的突变情况,探讨FGF16基因突变与单纯性VSD发生机制的关系。方法采用PCR结合DNA测序及软件比对分析的方法对100例患有单纯性VSD的患儿外周血进行FGF16基因编码序列突变筛查。结果 100例中国单纯性VSD患儿外周血中FGF16基因2个外显子PCR产物经DNA测序与软件比对分析后未发现突变。结论 FGF16基因突变和中国单纯性室间隔缺损的发病可能不相关。
Objective To analyze the mutation of FGF16 gene in peripheral blood of children with simple ventricular septal defect (VSD) in China and investigate the relationship between FGF16 gene mutation and the pathogenesis of simple VSD. Methods PCR-DNA sequencing and software alignment analysis were used to screen the mutation of FGF16 gene coding sequence in peripheral blood of 100 children with simple VSD. Results Two exon PCR products of FGF16 gene in peripheral blood of 100 Chinese children with simple VSD showed no mutation after DNA sequencing and software comparison analysis. Conclusion The mutation of FGF16 may not be related to the incidence of simple ventricular septal defect in China.