Objective:To screen the germ-line mutations of NKX2.5 gene among patients with non-syndromic congenital heart disease (CHD) and provide new insight into the molecular etiology responsible for CHD and explore the correlation between genotypes and phenotypes in southern China.Methods:The samples were collected from southern China.Human genomic DNA of 224 patients with non-syndromic CHD and 121 normal individuals were subjected to screen germ-line mutations of NKX2.5 gene by polymerase chain reaction (PCR) and DNA sequencing.Results:There no pathogenic mutations were found in NKX2.5 gene among the patients.Just three known single nucleotide polymorphisms (SNPs) were detected:rs2277963 (c.63A ＞G,GAA ＞ GAG,p.Glu21Glu),rs3729753 (c.606G＞C,CTG＞CTCp.Leu202Leu) and rs703752 (c.975-61 G＞T).Bothrs2277963 and rs3729753 were synonymous mutations.There were no differences between two groups of their alleles and genotypes frequencies.Conclusions:None pathogenic mutations were identified among the patients,which suggested that NKX2.5 gene mutations are relatively rare among non-syndromic CHD patients in southern China.Therefore,the diagnostic importance of NKX2.5 gene mutations may be confined to familial cases or specific subgroups of CHD phenotypes.
NETL
NSTL
维普
万方数据
