动脉导管未闭患儿TFAP2B基因变异筛查  

Mutation screening of TFAP2B gene in children with patent ductus arteriosus

作　　者：孙瑾[1] 韩波[1] 魏美丽[1] 杨文巍[1] 王介忠[1] 刘永蛟[1] 

机构地区：[1]山东大学附属省立医院小儿心脏科,济南250021

出　　处：《山东大学学报（医学版）》2013年第3期72-75,共4页Journal of Shandong University:Health Sciences

摘　　要：目的检测动脉导管未闭(PDA)患儿TFAP2B基因序列,探讨TFAP2B基因变异与PDA的关系。方法选取74例PDA患儿为病例组,100例健康儿童为对照组,分别收集外周血并提取基因组DNA。应用聚合酶链反应扩增TFAP2B基因的全部外显子及其两侧的部分内含子,采用Sanger测序法对扩增片段进行测序。将所测得序列与Genbank及NCBI数据库中TFAP2B基因序列进行比对,以识别TFAP2B基因有无突变或多态性。应用χ2检验比较TFAP2B基因多态在病例组和对照组之间的频率分布差异。结果病例组和对照组TFAP2B基因均发现1个新的单核苷酸多态位点(SNP),TFAP2B基因第1外显子编码区上游第34位鸟嘌呤转变为腺嘌呤(c.1-34G→A)。该位点等位基因及基因型在病例组和对照组间的频率分布差异无统计学意义(P>0.05)。结论 TFAP2B基因c.1-34G→A单核苷酸多态位点与动脉导管未闭之间无明显相关。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.

关 键 词：动脉导管未闭 TFAP2B 基因突变 单核苷酸多态性 儿童 

分 类 号：R541.1[医药卫生—心血管疾病]