›› 2011, Vol. 31 ›› Issue (9): 1240-.doi: 10.3969/j.issn.1674-8115.2011.09.006

• Original article • Previous Articles     Next Articles

Single nucleotide polymorphisms of TFAP-2B gene in children with patent ductus arteriosus

CHEN Yi-wei1, ZHAO Wu2, LI Fen1, JI Wei1, FU Qi-hua3, ZHANG Zhi-fang1, WANG Jian3   

  1. 1.Department of Cardiology, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China;2.Department of Pediatrics, The First Hospital Affiliated to Bengbu Medical College, Bengbu 233004, China;3.Institute of Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China
  • Online:2011-09-28 Published:2011-09-27
  • Supported by:

    Shanghai College Innovation Group Development Program of Shanghai Education Committee, No. 29, 2010;National Key Basic Research Development Program,“973” Program, 2010CB529501


Objective To investigate the relationship between c.1-34G>A and c.539+62G>C polymorphisms of TFAP-2B gene and patent ductus arteriosus (PDA), and explore the possible molecular biological pathogenesis of PDA. Methods One hundred children confirmed with PDA were selected as study objectives (PDA group), and another 100 healthy children were served as control group. PCR was employed to amplify all the exons and flanking introns (50 bp at least) of TFAP2B gene, and direct forward and reverse sequencing of the PCR products was performed. The acquired sequences of TFAP-2B gene were aligned with those in GenBank (Accession Number: NG_008438) by BLAST program to detect the possible single nucleotide polymorphisms (SNP). Results Two novel SNP of TFAP-2B gene (c.1-34G>A and c.539+62G>C) were detected in PDA group and control group, which were not included in NCBI and GenBank. The frequencies of allele and genotype of c.1-34G>A in PDA group were significantly higher than those in control group (allele frequency: Z=-2.513, P=0.012; genotype frequency: Z=-2.680, P=0.007). There was no significant difference in the frequencies of allele and genotype of c.539+62G>C between two groups (allele frequency: Z=-0.332,P=0.74; genotype frequency: Z=-0.129,P=0.897). Conclusion c.1-34G>A polymorphism of TFAP-2B gene may be associated with PDA, which may be a risk factor for PDA.

Key words: congenital heart disease, patent ductus arteriosus, TFAP-2B gene, single nucleotide polymorphism