汉族人群中二氢嘧啶脱氢酶基因多态性的初步研究  

Survey of the polymorphism of dihydropyrimidine dehydrogenase gene in the Han nationality population

作　　者：贾莉[1] 李建华[1] 蔡剑平[2] 郭健[2] 

机构地区：[1]中日友好医院检验科,北京100029 [2]北京医院卫生部临床检验中心,北京100730

出　　处：《中日友好医院学报》2005年第4期202-204,207,F0002,共5页Journal of China-Japan Friendship Hospital

基　　金：卫生部北京医院重点科研项目

摘　　要：目的:对中国汉族人群二氢嘧啶脱氢酶基因(DPYD)上与二氢嘧啶脱氢酶(DPD)活性相关的3个突变位点进行多态性调查。方法:采用PCR-SSCP-银染色法对122例健康汉族人DPYD的突变位点IVS14+1G→A、Exon13的A1627G和Exon11的G1156T进行筛查,并用限制性内切酶分析及DNA测序分析加以证实。结果:122例样本中有11例在Exon13的A1627G位点发生变异,限制性内切酶分析及DNA测序分析表明均为杂合型变异,其变异频率为4.5%;而IVS14+1G→A和Exon11的G1156T两个位点没有发现变异。结论:中国汉族人群DPYD的Exon13A1627G位点具有多态性;IVS14+1G→A和Exon11的G1156T两个位点没有多态性。Objective：To survey the polymorphism of three mutation points on dihydropyrimidine dehydrogenase gene （DPYD） related to dihydropyrimidine dehydrogenase （DPD）aetivity in the Chinese Han nationality groups.Methods：One hundred and twenty-two healthy people belonging to Han nationality groups were select- ed to scan three mutation points of DPYD （IVS14＋1G→A,Exonl3 A1627G and Exonll Gl156T） by PCR-SS- CP-silver staining method.We validated it by using restriction endonuelease analysis and DNA sequencing technique.Results：There were 11 variant bands of Exonl3 A1627G mutation among 122 samples and they were validated to be all heterozygote,whose allelie frequency was 4.5%.The IVS14＋1G→A and Exonll G1156T point mutation were not found.Conclusion：Exonl3 A1627G possesses the polymorphie point in the Han nationality groups,while the IVS14＋1G→A and Exonl1 G1156T are not.

关 键 词：基因多态性 二氢嘧啶脱氢酶 二氢嘧啶脱氢酶基因 

分 类 号：Q987[生物学—遗传学]