The distribution of allelic and genotypic frequencies of N-Acetyltransferase-2 variants in an Argentine population

J Infect Dev Ctries. 2012 Sep 17;6(9):671-4. doi: 10.3855/jidc.2111.

Abstract

Introduction: Arylamine N-acetyltransferase-2 (NAT-2) is a key human enzyme in drug detoxification and elimination. Mutations in NAT-2 affect the activity of anti-tuberculosis drugs and result in three different phenotypes: rapid (RA), intermediate (IA) and slow acetylators (SA).

Methodology: The allelic, genotypic and phenotypic frequencies of NAT-2 were studied in 185 patients from Buenos Aires by restriction fragment length polymorphism.

Results: The following allele frequencies were obtained: *4 = 29.9%, *5 = 37.0, *6 = 25.6%, *7 = 8% and *14 = 1.3%. With regard to the phenotype, we observed that 53.6% of the population was SA, 35.7% was IA and 10.7% was RA.

Conclusion: A high prevalence of SA might have an impact on anti-TB drug-induced hepatotoxicity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antitubercular Agents / adverse effects
  • Antitubercular Agents / metabolism*
  • Argentina
  • Arylamine N-Acetyltransferase / genetics*
  • Gene Frequency*
  • Genotype
  • Humans
  • Polymorphism, Restriction Fragment Length

Substances

  • Antitubercular Agents
  • Arylamine N-Acetyltransferase
  • NAT2 protein, human