华东汉族人群乙醇代谢酶相关SNP位点的多态性  

SNP Polymorphism of Alcohol Metabolizing Related Enzyme Genes in East China Han Population

作　　者：赵珍敏[1] 李莉[1] 向平[1] 张素华[1] 施妍[1,2] 邵伟波[1,3] 

机构地区：[1]司法部司法鉴定科学技术研究所上海市法医学重点实验室,上海200063 [2]复旦大学上海医学院法医学系,上海200032 [3]苏州大学基础医学院,苏州215123

出　　处：《中国司法鉴定》2010年第5期60-63,共4页Chinese Journal of Forensic Sciences

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。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.

关 键 词：ADH2 ADH3 ALDH CYP2E1 SNP 多态性 

分 类 号：Q987[生物学—遗传学]