单纯性动脉导管未闭患儿TFAP-2B基因单核苷酸多态性分析  

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

作　　者：陈轶维 赵武 李奋[1] 吉炜 傅启华[3] 张志芳[1] 王剑[3] 

机构地区：[1]上海交通大学医学院附属上海儿童医学中心心内科,上海200127 [2]蚌埠医学院附属第一医院儿科,蚌埠233004 [3]上海交通大学医学院附属上海儿童医学中心转化医学研究所,上海200127

出　　处：《上海交通大学学报（医学版）》2011年第9期1240-1244,共5页Journal of Shanghai Jiao tong University:Medical Science

基　　金：上海高校创新团队发展计划(沪教委科2010年29号文);国家重点基础研究发展计划("九七三"计划)(2010CB529501)~~

摘　　要：目的探讨TFAP-2B基因c.1-34G>A和c.539+62G>C多态性与单纯性动脉导管未闭(PDA)发生的关系,探索PDA发生的可能分子生物学机制。方法 以100例诊断明确的单纯性PDA患儿(PDA组)为研究对象,100名健康儿童为对照组。采用PCR扩增TFAP-2B基因的全部外显子和外显子侧翼至少50 bp内含子,所有扩增片段均进行双向测序。将所测TFAP-2B基因序列与GenBank中的已知序列(登录号:NG_008438)通过BLAST程序进行对比,以检出可能存在的单核苷酸多态(SNP)。结果 在PDA组和对照组中检出TFAP-2B基因2个新的SNP,现有NCBI和GenBank收录资料未见报道,即位于编码区上游第34位鸟嘌呤变为腺嘌呤c.1-34G>A和第2外显子下游第62位鸟嘌呤变为胞嘧啶c.539+62G>C。c.1-34G>A在PDA组的等位基因频率和基因型频率均高于对照组(等位基因频率比较:Z=-2.513,P=0.012;基因型频率比较:Z=-2.680,P=0.007);c.539+62G>C等位基因频率和基因型频率在两组间比较差异无统计学意义(等位基因频率比较:Z=-0.332,P=0.74;基因型频率比较:Z=-0.129,P=0.897)。结论 TFAP-2B基因c.1-34G>A多态与单纯性PDA发生有关,可能是PDA发生的易感因素之一。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.MethodsOne 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.

关 键 词：先天性心脏病 动脉导管未闭 TFAP-2B基因 单核苷酸多态性 

分 类 号：R725.4[医药卫生—儿科]