【摘要】 目的探讨温州地区汉族人群N-乙酰基转移酶2(NAT2)基因多态性分布规律。方法应用聚合酶链反应(PCR)及测序技术对174名温州地区汉族健康人群NAT2 4个突变位点的基因多态性进行检测,并与其它人群进行比较。结果NAT2等位基因频率分别为:W t(59.77%),M2(21.83%),M3(14.36%),M1(4.02%)。未检测到M4突变等位基因。各基因型频率分别为:W t/W t(39.08%),W t/M2(22.99%),W t/M3(14.94%),M2/M3(9.20%),M2/M2(4.60%),W t/M1(3.45%),M1/M2(2.30%),M3/M3(1.72%)M1/M3(1.15%),M1/M1(0.57%)。结论温州地区汉族人群NAT2突变基因中,以M2为主,主要以W t/M2形式存在,M1突变最少,未发现M4。基因多态分布与日本人接近,与其他地区显著不同。更多还原

【Abstract】 Objective :To determine the distribution of N-acetyltransferase 2(NAT2) genetic polymorphisms in Wenzhou Hans.Methods : Genetic polymorphisus of four NAT2 loci in a total of 174 healthy Wenzhou Hans were studied with polymerase chain reaction and sequence determination technique.Current results were compared with the data on other ethnic groups.Results : The alleles genetic frequencies Wt,M1,M2,M3 were 59.77%,4.02%,21.83%,14.36% respectively.The M4 alleles were not detected.While the genotype frequencies of NAT2 polymorphisms were found to be Wt/ Wt(39.08%),Wt/ M2(22.99%),Wt/ M3(14.94%),M2/ M3(9.20%),M2/ M2(4.60%),Wt/ M1(3.45%),M1/ M2(2.30%),M3/ M3(1.72%) M1/ M3(1.15%),M1/ M1(0.57%) respectively.Conclusion :The NAT2 genetic polymorphisms in Wenzhou Hans were similar to those in Japanese population,but were significantly different from those in other areas.更多还原