Objective: To explore the differences of NKX2.5 and TBX5 gene mutations between in vitro fertilization (IVF) children with congenital heart disease (CHD) and naturally conceived children with CHD.
Methods: Blood samples from 68 IVF children with CHD and 98 naturally conceived children with CHD were collected. The mutations in coding regions 1 and 2 of the NKX2.5 gene, and coding regions 4, 5, and 8 of the TBX5 gene were examined by polymerase chain reaction (PCR) and DNA sequencing.
Results: An A-to-G mutation at nucleotide 63 (c.63A>G) in coding region 1 of the NKX2.5 gene was found in both IVF and naturally conceived children with CHD. There were no significant differences in genotype and allele frequencies at c.63A>G locus of the NKX2.5 gene between the two groups. No mutations were detected in coding region 2 of the NKX2.5 gene and coding regions 4, 5 and 8 of the TBX5 gene.
Conclusions: There is no difference in NKX2.5 and TBX5 gene mutations between IVF and naturally conceived children with CHD. Therefore, it is presumed that assisted reproductive technology may not lead to mutations in the NKX2.5 and TBX5 genes.
目的: 探讨患先天性心脏病的试管婴儿与自然受孕儿间是否存在NKX2.5基因和TBX5基因突变差异。
方法: 应用聚合酶链反应结合DNA测序技术，对68例试管婴儿先天性心脏病患儿和98例自然受孕先天性心脏病患儿的NKX2.5基因编码区1、2和TBX5基因编码区4、5、8进行突变检测。
结果: 在患先天性心脏病的试管婴儿与自然受孕儿中，均发现NKX2.5基因编码区1中第63位碱基发生突变（c.63A > G），该位点基因型及等位基因频率的分布在两组间差异无统计学意义。NKX2.5基因编码区2和TBX5基因编码区4、5、8未检测到突变。
结论: 先天性心脏病的试管婴儿与自然受孕儿间NKX2.5基因和TBX5基因突变无差异，推测辅助生殖技术并未引起NKX2.5基因和TBX5基因突变。