山东地区汉族健康人群N-乙酰基转移酶基因多态性分布  

STUDY ON THE POLYMORPHISMS IN HUMAN ARYLAMINE N-ACETYLTRANSFERASE 2 GENE OF HEALTHY INDIVIDUALS IN SHANDONG

作　　者：王萍玉[1] 谢书阳[1] 张帅[1] 王冉[1] 

机构地区：[1]山东省滨州医学院基础学院,烟台264003

出　　处：《现代预防医学》2010年第7期1350-1352,1357,共4页Modern Preventive Medicine

基　　金：山东省高等学校科技计划项目(J09LF11)

摘　　要：[目的]探讨山东地区健康汉族人群N-乙酰基转移酶2(NAT2)基因多态性分布规律。[方法]采用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP),检测200名山东地区汉族健康人群NAT2基因多态性,并与其他地区人群进行比较。[结果]NAT2等位基因频率分别为:NAT2*4(56.0%)、NAT2*5B(12.0%)、NAT2*6A(16.5%)、NAT2*7B(15.5%),与浙江健康汉族人群NAT2等位基因频率分布比较差异无统计学意义(χ2=7.54,P﹥0.05);NAT2各基因型频率分别为:NAT2*4/*4(36.0%),NAT2*4/*7B(15.0%),NAT2*4/*6A(14.0%),NAT2*4/*5B(11.0%),NAT2*6A/*7B(6.0%),NAT2*6A/*6A(5.0%),NAT2*5B/*7B(4.0%),NAT2*5B/*5B(3.0%),NAT2*5B/*6A(3.0%),NAT2*7B/*7B(3.0%),符合Hardy-Weinberg平衡定律(χ2=13.35,0.10﹤P﹤0.25);基因型分类:快乙酰化基因型(36%)、中间乙酰化基因型(40%)、慢乙酰化基因型(24%);表型:快型乙酰化(76%)、慢型乙酰化表型(24%)。[结论]山东地区汉族健康人群中频率最高的等位基因是NAT2*4,频率最低的等位基因是NAT2*5B,与中国浙江地区相近,与其他地区不同。最常见基因型为NAT2*4/*4,其次是NAT2*4/*7B,NAT2*4/*6A,NAT2*4/*5B,其他少见。表型以快型乙酰化为主。[Objective] To study on the polymorphisms in human arylanline N-acetyltransferase 2 gene of healthy indi- viduals in Shandong. [Methods] The polymorphisms in the NAT2 gene of 200 healthy Han individuals were discriminated us- ing polymerase chain reaction （PCR） and PCR-restriction fragment length polymorphism analysis. The frequencies of specific NAT2 alleles were compared with the other ethnic groups. [ Results] The frequencies of specific NAT2 alleles were 56.0%, 12.0%, 16.5%, 15.5% for NAT2＊4, NAT2＊5B, NAT2＊6A and NAT2＊7B, respectively. No statistically significant difference of the frequencies was found between Han individuals in Shandong and in ZheJiang （~ = 7.54, P 〉 0.05）. The frequencies of NAT2 genotypes were 36.0%, 15.0%, 14.0%, 11.0%, 6.0%, 5.0%, 4.0%, 3.0%, 3.0%, and 3.0% for NAT2＊4/＊4, NAT2＊4/＊7B, NAT2＊4/＊6A, NAT2＊4/＊5B, NAT2＊6A/＊7B, NAT2＊6A/＊6A, NAT2＊5B/＊7B, NAT2＊5B/＊5B, NAT2＊5B/＊6A and NAT2＊7B/＊7B, respectively. The distribution of genotype was in Hardy-Weinberg equilibrium （~ = 13.35, 0.10 〈 P 〈 0.25）. The frequencies of rapid genotype and intermediate genotype and slow genotype were 36%, 40% and 24%, respectively. The frequencies of rapid acetylators and slow acetylators were 76% and 24%. [Conclusions] The most common alleles is NAT2＊4 and the less common alleles is NAT2＊ 5B in healthy individuals in Shandong, which resemble indi- viduals in Zhejiang. The most prevalent genotypes are NAT2＊4/＊4, followed by NAT2＊4/＊7B, NAT2＊4/＊6A, NAT2＊4/＊5B. Rapid aeetylator is over slow acetylator.

关 键 词：N=乙酰基转移酶2 基因多态性 山东 

分 类 号：R181.3[医药卫生—流行病学]