Comparative analysis of N-acetylation polymorphism in humans as determined by phenotyping and genotyping |
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| Authors: | I V Goldenkova-Pavlova S A Brouskin R M Abdeev E V Markarova S G Bigvava L A Radkevich H A Kurdanov Zh M Kozhekbaeva A S Glotov O A Gra A S Zasedatelev T V Nasedkina E S Piruzyan |
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| Institution: | (1) Center of Theoretical Problems of Physicochemical Pharmacology, Russian Academy of Sciences, Moscow, 117999, Russia;(2) Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, 119991, Russia;(3) Center for Medical Ecological Research, Institute of Biomedical Problems, Russian Academy of Sciences, Nal’chik, 337600, Dagestan Republic, Russia;(4) Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, 119991, Russia |
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| Abstract: | 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 NAT2*4 (a “fast” allele), NAT2*5, and NAT2*6 (“slow” alleles); the most frequent genotypes are NAT2*5/*5, NAT2*4/*6, and NAT2*4/*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. |
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