关键词: 等位基因特异PCR, 遗传多态性, N2乙酰化转移酶

Abstract: Purpose and Methods : Allele2specific PCR (AS2PCR) was modfied to identify the genotype of N-acetylt ransferase (NAT2) . Three mutations at the NAT2 gene locus , namely , 481 T , 590 A , 857 A were analyzed. We used the method to investigate the f requency of various genotypes of NAT2 in 76 unrelated Nanjing persons , and the method was tested also. Results : In the population the gene f requencies of Wt , 481 T , 590 A ,and 857 A were 0. 5723 , 0. 0395 , 0. 2368 , 0. 1513 , respectively. The f requencies for NAT2 mutations were significantly different f rom those of Whites , and were similar to those of Asian populations reported. Conclusion : The prevalence of the genotype associated with rapid acetylation among Nanjing people was 82. 9 % , and was proved that the modified AS2PCR is useful in acetylator polymorphism studies.

Key words: allele-specific PCR, polymorphism, N-acetylt ransferase