Abstract:

Objective To elucidate association and the mutation of Nkx2.5 gene in exon 1 in Chinese patients with congenital heart disease(CHD).Methods We selected 110 CHD patients and 110 normal subjects as control group from Beijing Children's Hospital.After amplifying the exons 1 of the Nkx2.5 gene by polymerase chain reaction(PCR),we purified the PCR products and conducted the sequencing reaction,analyzed the SNPs and mutation screening of the exon 1 of the Nkx2.5 gene,investigate whether or not the Nkx2.5 gene is related with the CHD in Chinese population.Results No mutation was found in the exon 1 of the Nkx2.5 gene;however a new single nucleotide polymorphism(SNPs) was identified,further carried out a case-control study,there were significant differences of the allele between the ventricular septal defect or tetralogy of Fallot patients and normal controls(χ²=34.021,df=2,P<0.01;χ²=15.233,df=2,P<0.01),There were also significant difference of the genotype frequencies of the SNPs between the ventricular septal defect or tetralogy of Fallot patients and normal control(χ²=(24.813),df=1,P<0.01;χ²=7.146,df=1,P<0.01).Conclusion The mutation of Nkx2.5 gene might not be associated with CHD in Chinese population.The allele and genotype distributions of the new SNPs studied were significantly different between the patients with ventricular septal defect or tetralogy of Fallot and control groups.

Key words: congenital heart disease, polymerase chain reaction, DNA sequencing, gene mutation, single nucleotide polymorphism