Goldenkova-Pavlova I V, Bruskin S A, Abdeev R M, Markarova E V, Bigvava S G, Radkevich L A, Kozhekbaeva Zh M, Glotov A S, Gra O A, Zasedatelev A S, Nasedkina T V, Kurdanov Kh A, Piruzian E S
Genetika. 2006 Aug;42(8):1143-50.
The N-acetylation polymorphisms of volunteers from the Moscow population analyzed by phenotyping and genotyping have been compared. The ratios between the proportions of fast acetylators (FAs) and slow acetylators (SAs) estimated by phenotyping and genotyping do not differ significantly from each other (47 and 44%, respectively). The absolute acetylation rate widely varies in both FAs and SAs. The NAT2 genotype and allele frequencies in the population sample have been calculated. The most frequent alleles are NAT24 (a "fast" allele), NAT25, and NAT26 ("slow" alleles); the most frequent genotypes are NAT25/5, NAT24/6, and NAT24/*5. Comparative analysis of N-acetylation polymorphism estimated by phenotyping and genotyping in the same subjects has shown a complete concordance between the phenotype and genotype in only 62 out of 75 subjects (87%). Comparative characteristics and presumed applications of the two approaches (quantitative estimation of acetylation rate and qualitative determination of the acetylator genotype) to the identification of individual acetylation status are presented.
通过表型分析和基因分型对来自莫斯科人群的志愿者的N - 乙酰化多态性进行了比较。通过表型分析和基因分型估计的快速乙酰化者(FAs)和慢速乙酰化者(SAs)比例之间的比率彼此无显著差异(分别为47%和44%)。快速乙酰化者和慢速乙酰化者的绝对乙酰化率均有很大差异。已计算出人群样本中的NAT2基因型和等位基因频率。最常见的等位基因是NAT24(“快速”等位基因)、NAT25和NAT26(“慢速”等位基因);最常见的基因型是NAT25/5、NAT24/6和NAT24/*5。对同一受试者通过表型分析和基因分型估计的N - 乙酰化多态性进行的比较分析表明,75名受试者中只有62名(87%)的表型和基因型完全一致。介绍了两种方法(乙酰化率的定量估计和乙酰化者基因型的定性测定)在识别个体乙酰化状态方面的比较特征和推测应用。