Genetic analysis of N-acetyltransferase polymorphism in a Chinese population.

AIM: To study the genetic basis of N- acetylatransferase polymorphism in Chinese. METHODS: Genotypes in 120 healthy Han volunteers from 19 provinces of China were assayed. The 3 common mutant alleles (M1, M2, M3) and one normal wild type (WT) allele of the N acetyltransferase (NAT2) gene were detected by allele specific polymerase chain reaction technique. RESULTS: The NAT2 allele frequencies in 120 Chinese (WT=0 625, M1=0 0458, M2=0 188, M3=0 142) were different ( P 0 01). The NAT2 genotype distribution for all detected combinations of NAT2 alleles in 120 Chinese subjects was consisitent with Hardy Weinberg equilibrium (χ 2=7.27, ν=8 , 0 7 P 0 5 ). Fifty subjects (41.7 %) were homozygous wildtypes, 50 subjects (41.7 %) were heterozygous mutants, and 20 subjects ( 16.7 % ) were homozygous mutants. CONCLUSION: The lower frequency of mutant M1 allele compared with that of Caucasians explains the low frequency of slow acylators in Chinese.