关键词: 动脉导管未闭；TFAP2B；基因突变；单核苷酸多态性；儿童

Abstract:

Objective   To detect TFAP2B gene sequences in PDA children, so as to analyze the relationship between PDA and TFAP2B gene mutation. Methods   A total of 74 children with PDA and a total of 100 healthy children as controls were registered. The peripheral blood was collected and the genome DNA was extracted.All exons and flanking intronic regions of TFAP2B gene were amplified by polymerase chain reaction and the amplions were sequenced by using Sanger sequencing. The required sequences were compared with Genbank and NCBI sequence databases so as to identify whether the mutation or the polymorphism existed.The difference of polymorphic frequency distribution between the PDA children and the controls was tested by Chi-square test.  Results   One single nucleotide polymorphism (c.1-34G→A)of TFAP2B gene was identified in the PDA children and the healthy children. However, the polymorphic frequency distribution was not statistically different from that in the controls(P＞0.05).  Conclusion   The single nucleotide polymorphism(c.1-34G→A)of TFAP2B gene may be not related to PDA.

Key words: Patent ductus arteriosus; Transcription factor AP-2 beta; Gene mutation; Single nucleotide polymorphism; Children