Literature DB >> 17025166

[Comparative analysis of N-acetylation polymorphism in humans as determined by phenotyping and genotyping].

I V Goldenkova-Pavlova, S A Bruskin, R M Abdeev, E V Markarova, S G Bigvava, L A Radkevich, Zh M Kozhekbaeva, A S Glotov, O A Gra, A S Zasedatelev, T V Nasedkina, Kh A Kurdanov, E S Piruzian.   

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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Year:  2006        PMID: 17025166

Source DB:  PubMed          Journal:  Genetika        ISSN: 0016-6758


  2 in total

Review 1.  Genotype-Guided Hydralazine Therapy.

Authors:  Kimberly S Collins; Anthony L J Raviele; Amanda L Elchynski; Alexander M Woodcock; Yang Zhao; Rhonda M Cooper-DeHoff; Michael T Eadon
Journal:  Am J Nephrol       Date:  2020-09-14       Impact factor: 3.754

2.  Studying polymorphic variants of the NAT2 gene (NAT2*5 and NAT2*7) in Nenets populations of Northern Siberia.

Authors:  Roza Pavlovna Tiis; Ludmila Pavlovna Osipova; Daria Veniaminovna Lichman; Elena Nikolaevna Voronina; Maxim Leonidovich Filipenko
Journal:  BMC Genet       Date:  2020-10-22       Impact factor: 2.797

  2 in total

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