N-Acetyltransferase-1 gene polymorphisms and correlation between genotype and its activity in a central Chinese Han population

BackgroundWe investigated the arylamine N-acetyltransferase-1 (NAT1) gene polymorphisms and the correlation between genotype and phenotype in a Chinese Han population.MethodsPeripheral blood from 140 Han people were collected and analyzed for NAT1 genotypes by allele-specific PCR combining with PCR-based restriction fragment length polymorphism-based procedure. The NAT1 phenotype were determined according to the NAT1 enzyme kinetics in leukocytes by HPLC method and the values of intrinsic clearance (Clint) and Vmax and Michaelis constant (Km) of NAT1 were calculated.ResultsThe NAT1 genotype of Chinese Han populations was distinguished accurately and the NAT1 activity were detected in 32 objects with different genotypes. The allelic frequencies of NAT1⁎3, NAT1⁎4, NAT1⁎10 and NAT1⁎11 from 140 Han people, were 0.082, 0.496, 0.40 and 0.022, respectively. Compared with the activity of wild genotype NAT1 ⁎4/⁎4, the activity of the homozygote or heterozygote NAT1⁎10 genotype which includes the NAT1 ⁎4/⁎10, the NAT1 ⁎10/⁎10 and the NAT1 ⁎3/⁎10 was significantly high (p < 0.05). The activity of the NAT1 ⁎11/⁎11 and NAT1 ⁎4/⁎11 was lower than that of the homozygote or heterozygote NAT1⁎10 genotype (p < 0.05), but no difference with the activity of wild genotype and the NAT1 ⁎4/⁎3 and NAT1 ⁎3/⁎3.ConclusionThe distribution of the NAT1 genotype in a Chinese Han population was different from that in other countries. The activity of NAT1 showed significant variance from leukocytes with different genotypes.