822 Detecting the Single Nucleotide Polymorphisms and Metabolic Phenotype of Cytochrome P450 Genes in Chinese Han Population

Objective:: The aim of this study was to understand the genetic polymorphism of CYP450 subtypes, and to obtain the genetic data of these loci in Chinese Han population. Methods: We identified 300 children who were randomly sampled from the outpatient and inpatient department from March, 2005 to December, 2008. Members of these children were of Chinese Han ancestry. Eight important SNPs in 6 important CYP450 subtypes (CYP2E1 -1053C>T, CYP3A4 878T>C, CYP2D6 100C>T, CYP2C9 1075A>C, CYP2E1 7632T>A, CYP2C19 636G>A, CYP2C19 681G>A/C and CYP3A5 6986A>G) were chosen for this study. The genotypes of these SNPs in 300 random Chinese Han children were typed by realtime PCR and by sequencing. Results: The frequencies of wild heterozygote on the loci of CYP2D6 100C>T, CYP2C19 681G>A/C and CYP3A5 6986A>G (0.470, 0.463 and 0.437) were high in Chinese Han population, and the frequencies of mutant homozygote on the loci of CYP2D6 and CYP3A5 were higher than that of wild homozygote (0.353 vs 0.177, 0.417 vs 0.147). The frequencies of wild homozygote on the loci of CYP2C9 1075A>C, CYP3A4 878T>C, CYP2C19 636G>A, CYP2E1 -1053C>T and CYP2E1 7632T>A (1.000, 0.980, 0.893, 0.613 and 0.583) were high in Chinese Han population, the genetic variability on the loci of CYP2C9 1075A>C and CYP3A4 878T>C (0.000, 0.020) were especially rare in Chinese Han population. Conclusions: The mutation frequencies of these three SNPs (CYP2D6 100C>T, CYP2C19 681G>A/C and CYP3A5 6986A>G) were high in random Chinese Han population, so they could be candidate loci for subsequent optimization grouping SNPs research.