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