title: [Mutation of TFAP-2B gene in patients with patent ductus arteriosus].
abstract: OBJECTIVE
  To identify novel genetic mutations in Chinese patients with congenital patent ductus arteriosus (PDA).
  
  
  METHODS
  Clinical data and peripheral blood specimens from a kindred spanning 3 generations in which 5 of 16 individuals had PDA and a cohort of 95 unrelated subjects with PDA were collected, and 100 unrelated healthy individuals were included as controls. The coding exons and flanking introns of TFAP-2B gene were amplified by polymerase chain reaction (PCR) with specific primers. We aligned the acquired sequences with which publicized in GenBank by the aid of program BLAST. Reverse transcription-polymerase chain reaction (RT-PCR) was used to amplify the parts of TFAP-2B and sequencing was performed on PCR products forward and reversely directly.
  
  
  RESULTS
  Sequencing of TFAP-2B identified that there was a splice-junction in intron 3 [intron 3(+5)G > A] and a 60 bp deletion was found in exon 3 by nested PCR. Additionally, a novel single nucleotide polymorphism (SNP) where a transition of guanine (G) to adenine (A) was identified at 34 bp front of transcription initiation site in TFAP-2B gene. There were significant differences in the prevalence of alleles G and A between controls and PDA patients (Z = -2.513, P = 0.012).
  
  
  CONCLUSIONS
  We identified a novel splice-junction in TFAP-2B gene which might lead to hereditary PDA in a Chinese family. However, the mechanism by which this mutation results in PDA is still to be ascertained.
authors.affiliation: Department of Cardiology, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
authors.forename: Yi-wei
authors.initials: YW
authors.lastname: Chen
authors.forename: Wu
authors.initials: W
authors.lastname: Zhao
authors.forename: Fen
authors.initials: F
authors.lastname: Li
authors.forename: Wei
authors.initials: W
authors.lastname: Ji
authors.forename: Qi-hua
authors.initials: QH
authors.lastname: Fu
authors.forename: Zhi-fang
authors.initials: ZF
authors.lastname: Zhang
authors.forename: Jian
authors.initials: J
authors.lastname: Wang
mesh_terms: D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004374:Ductus Arteriosus, Patent / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D050656:Transcription Factor AP-2 / Q000235:genetics*
chemical_list: C493677:TFAP2B protein, human; D050656:Transcription Factor AP-2