汉族人群中二氢嘧啶脱氢酶基因多态性的初步研究

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Exon13 A1627G位点具有多态性;IVS14 1G→A和Exon11的G1156T两个位点没有多态性.

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

Objective:To survey the polymorphism of three mutation points on dihydropyrimidine dehydrogenase gene(DPYD) related to dihydropyrimidine dehydrogenase(DPD)activity in the Chinese Han nationality groups.Methods:One hundred and twenty-two healthy people belonging to Han nationality groups were selected to scan three mutation points of DPYD (IVS14+1GA,Exon13 A1627G and Exon11 G1156T) by PCR-SSCP-silver staining method.We validated it by using restriction endonuclease analysis and DNA sequencing technique.Results:There were 11 variant bands of Exon13 A1627G mutation among 122 samples and they were validated to be all heterozygote,whose allelic frequency was 4.5%.The IVS14+1GA and Exon11 G1156T point mutation were not found.Conclusion:Exon13 A1627G possesses the polymorphic point in the Han nationality groups,while the IVS14+1GA and Exon11 G1156T are not.