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| 华东汉族人群乙醇代谢酶相关SNP位点的多态性 | |
| 引用本文： | 赵珍敏,李莉,向平,张素华,施妍,邵伟波.华东汉族人群乙醇代谢酶相关SNP位点的多态性[J].中国司法鉴定,2010(5):60-63. |
| 作者姓名： | 赵珍敏 李莉 向平 张素华 施妍 邵伟波 |
| 作者单位： | 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. 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;复旦大学,上海医学院,法医学系,上海200032 3. 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;苏州大学基础医学院,苏州,215123 |
| 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 |
SNP Polymorphism of Alcohol Metabolizing Related Enzyme Genes in East China Han Population |
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| ZHAO Zhen-min,LI Li,XIANG Ping,ZHANG Suhua,SHI Yan,SHAO Wei-bo.SNP Polymorphism of Alcohol Metabolizing Related Enzyme Genes in East China Han Population[J].Chinese Journal of Forensic Sciences,2010(5):60-63. | |
| Authors: | ZHAO Zhen-min LI Li XIANG Ping ZHANG Suhua SHI Yan SHAO Wei-bo |
| Institution: | 1.Shanghai Key Laboratory of Forensic Medicine, Institute of Forensic Science, Ministry of Justice, Shanghai 200063, China; 2.Department of Forensic Medicine, Shanghai Medical College, Fudan University, Shanghai 200032, China; 3.Medical School of Soochow University, Suzhou 215123, China) |
| 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. |
| Keywords: | ADH2 ADH3 ALDH CYP2E1 SNP |
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