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[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 investigate the distribution of N-acetyltransferase 2 (NAT2) gene polymorphism in healthy Han nationality in Shandong province. [Methods] Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the polymorphism of NAT2 gene in 200 Han healthy population in Shandong Province and compared with other regions. [Results] The frequencies of NAT2 alleles were NAT2 * 4 (56.0%), NAT2 * 5B (12.0%), NAT2 * 6A (16.5%) and NAT2 * 7B The frequency of NAT2 * 4 / * 4 (36.0%), NAT2 * 4 / * 7B (15.0%) were significantly higher than that of NAT2 * 4 / * 4 NAT2 * 4 * * 5B (11.0%), NAT2 * 6A / * 7B (6.0%), NAT2 * 6A / * 6A (Χ2 = 13.35,0.10), NAT2 * 5B / * 5B (3.0%), NAT2 * 5B / * 6A (3.0%) and NAT2 * 7B / * 7B (P <0.25). Genotypes: Fast acetylated genotype (36%), intermediate acetylated genotype (40%) and slow acetylated genotype (24% ), A slow acetylated phenotype (24%). [Conclusion] The highest frequency allele of healthy Han nationality in Shandong Province is NAT2 * 4 and the lowest allele is NAT2 * 5B, which is similar to Zhejiang Province in China and different from other regions. The most common genotypes are NAT2 * 4 / * 4, followed by NAT2 * 4 / * 7B, NAT2 * 4 / * 6A, NAT2 * 4 / * 5B, and others are rare. Phenotypic fast-based acetylation.