目的观察心脏发育相关基因NKX2.5和GATA4突变与先天性心脏病之间的相关性。方法纳入214例先天性心脏病患儿,并入选186例健康儿童作为对照组,用脱氧核糖核酸聚合酶链反应(PCR-DNA)测序技术对先天性心脏病患儿外周血中NKX2.5和GATA4基因的外显子及其侧翼序列进行分析。测序完成后,对NKX2.5的2个外显子和GATA4的6个外显子进行聚合酶链反应(PCR)扩增测序,将结果与Gene Bank中公布的DNA标准序列进行对比,观察是否发生突变。结果 NKX2.5测序发现,72例患儿位于21位氨基酸的第3位碱基发生同义突变(c.63A>G,E21E),8例患儿的94位氨基酸的第3位碱基发生同义突变(c.282A/C,P94P),以上突变基因均位于外显子1;48例患儿的246位氨基酸的第3位碱基均发生突变(T→A,c.738A/T,N246K),位于外显子2的第一部分;8例患儿的2个杂合发生同义突变[(c.769C/G,P257P)和(c.780C/A,G260G)],位于外显子2的第二部分。GATA4测序发现,8例患儿的第744位碱基发生杂合同义突变(c.744C>T,N248N),位于外显子3。结论在先天性心脏病患儿中,NKX2.5外显子发现了5个突变位点,GATA4发现了1个突变位点,这些单核苷酸多态性与先心病可能存在着相关性。 Objective To observe the correlation between cardiac development-related genes NKX2.5 and GATA4 mutations and congenital heart disease. Methods Totally 214 children with congenital heart disease were enrolled and 186 healthy children were enrolled as the control group. The levels of NKX2.5 and IL-6 in peripheral blood of children with congenital heart disease were detected by PCR-DNA sequencing The exons of GATA4 gene and their flanking sequences were analyzed. After the sequencing was completed, two exons of NKX2.5 and six exons of GATA4 were subjected to polymerase chain reaction (PCR) amplification and sequencing, and the results were compared with the DNA standard sequence published in Gene Bank to observe whether A mutation occurred. Results The sequencing of NKX2.5 revealed that synonymous mutations (c.63A> G, E21E) occurred in the third base of amino acid at position 21 in 72 children and the third base at amino acid 94 of 8 children Synonymous mutations (c.282A / C, P94P), the above mutations are located in exon 1; 48 cases of children with mutations in the third base of 246 amino acids (T → A, c.738A / T , N246K) located in the first part of exon 2; two heterozygous mutations occurred in 8 children [(c.769C / G, P257P) and (c.780C / A, G260G)], The second part of Exon 2. GATA4 sequencing found that the 874 children with the first 744 alleles heterozygous synonymous mutations (c.744C> T, N248N), located in exon 3. Conclusion There are 5 mutation sites in NKX2.5 exon and 1 mutation site in GATA4 in children with congenital heart disease. These single nucleotide polymorphisms may be associated with CHD.