一种检测N-乙酰基转移酶2多态性的新方法  

An accurate and feasible approach for simultaneous detection of N-acetyltransferase 2 alleles in a Chinese population

作　　者：冷伟卫[1] 李金恒[1] 曹晓梅[1] 朱志远[1] 

机构地区：[1]第二军医大学南京临床医学院(南京军区南京总医院)临床药理科,江苏南京210002

出　　处：《医学研究生学报》2006年第6期482-486,共5页Journal of Medical Postgraduates

基　　金：国家自然科学基金资助项目(批准号:30472055)

摘　　要：目的:建立一种新的快速方便的PCR结合限制性片段长度多态性(PCR-RFLP)法检测N-乙酰基转移酶2(NAT2)的多态性,并研究NAT2基因型在中国人群中的分布频率。方法:用两步PCR-RFLP法直接检测来自18个省市的150名中国健康人NAT2基因类型及其发生率,同时用等位基因特异扩增法(ASA)检测其中20%的样本,用Hardy-W e inberg平衡计算NAT2基因型的分布频率。结果:两步PCR-RFLP法与ASA结果完全一致。中国人野生型(*4)和*5、*6、*7三种突变型等位基因的基因频率分别为63%、4.3%、18.3%和14.3%,符合Hardy-W e in-berg平衡(χ2=7.89,ν=9,0.7>P>0.5)。结论:两步PCR-RFLP法测定NAT2代谢类型准确、方便、经济,为临床个体化合理用药提供了科学依据。Objective：To establish a simplified PCR-RFLP method for detecting the polymorphism of NAT2. Methods： Genotypes in 150 healthy Han volunteers from 18 provinces of China were assayed by two-step PCR-RFLP method analysis. 20% of the samples were done by comparing phenotype status by two-step PCR-RFLP method analysis and also by allele-specific amplification （ASA） method for the polymorphisms of NAT2, and using the Hardy-Weinberg equilibrium to calculate the allele frequencies. Results： 20% of the samples were in complete agreement by both ASA and RFLP analysis and 100% correlation was achieved between the two methods. The NAT2 alleles frequencies in 150 Chinese （^·4 = 63 %, ^·5 = 4.3 %,^· 6 = 18.3 %,^·7 = 14.3 % ） were different （P〈0.01 ）. The NAT2 genotype distilbution for all detected combinations of NAT2 alleles in 150 Chinese subjects was consistent with HardyWeinberg equilibrium （χ^2 = 7.89, v = 9, 0.7 〉 P〉0.5 ）. Conclusion ： Two-steps PCR-RFLP method was proved to be accurate ,convenient and economic. It can be used in rational drug therapy.

关 键 词：N-乙酰基转移酶 PCR结合限制性片段长度多态性 基因分型多态性 中国人 

分 类 号：R446[医药卫生—诊断学]