Abstract: Objective To get the data of allele and genotype frequencies of 40 SNP loci in alcohol dehydrogenase （ADH2， ADH3）， aldehyde dehydrogenase 2 （ALDH2） and CYP2E1 genes. Methods Blood samples from 199 unrelated individuals in east China region were collected and SNPs were genotyped using multiplex PCR and iPLEX chemistry on a matrix-assisted laser desorption/ionization time-of-flight mass spectrometer. Results Among the 40 SNP loci， MAFs at six SNP loci （rs698， rs2241894 at ADH3 gene， rs13306164， rs671 at ALDH2 gene， rs28371746， rs2515641 at CYP2E1 gene） were above 1%， while the others were below 1%. Conclusion There are six SNP loci （rs698， rs2241894， rs13306164， rs671， rs28371746 and rs2515641） showing polymorphism among the 40 SNP loci in East China Han Population.
Key words： ADH； ALDH； CYP2E1； single nucleotide polymorphism； genetic polymorphism

Key words: ADH, ALDH, CYP2E1, single nucleotide polymorphism, genetic polymorphism

摘要： 目的 对ADH2、ADH3、ALDH2 和CYP2E1基因的40个SNP位点进行群体遗传学分析，得到多态性信息。方法 利用PCR和质谱技术平台对SNP位点进行分型检测，通过对中国华东地区汉族人群199个无关个体的调查，统计分析40个SNP位点的等位基因分布频率。结果 40个SNP位点中，rs698、rs2241894（ADH3基因座），rs13306164、rs671（ALDH2基因座）和rs28371746、rs2515641（CYP2E1基因座）的小等位基因分布频率（MAF）均大于1%，其它SNP位点的MAF均小于1%。结论 ADH2、ADH3、ALDH2 和CYP2E1基因的40个SNP位点中，6个位点（rs698、rs2241894、rs13306164、rs671、rs28371746和rs2515641）在华东汉族人群中具有多态性。

关键词: ADH2, ADH3, ALDH, CYP2E1, SNP, 多态性