Determination and allelic allocation of seven nucleotide transitions within the arylamine N-acetyltransferase gene in the Polish population

Clin Pharmacol Ther. 1996 Apr;59(4):376-82. doi: 10.1016/S0009-9236(96)90104-6.


The frequency of various genotypes of arylamine N-acetyltransferase (NAT2) was investigated in 248 Polish unrelated children. Allele-specific polymerase chain reaction (PCR) was applied for mutation at 341 nucleotide (nt) of NAT2 coding sequence and PCR/restriction fragment length polymorphism for the other mutations. Genotypes coded for slow acetylation in 62.9% (56.6% to 68.9%). The frequency of specific NAT2 alleles was *4 (wild-type), 22.0%; *5A (341C, 481T), 5.2%; *5B (341C, 481T, 803G), 33.1%; *5C (341C, 803G), 6.0%; *6A (282T, 590A), 30.0%; *7B (282T, 857A), 3.4%; and *12A (803G), 0.2%. No mutations were found at 191, 434, and 845 nt. By a molecular-genetic procedure, genotypes *4/*6A were confirmed not to mask *6B/*13 (590A/282T). *6B and *13 were absent in a composite sample representative of 826 alleles (95% confidence limits, 0% to 0.45%). Five cases of genotype-phenotype discrepancy were sequenced and their mutation allocation confirmed; 21 further genotypes were confirmed by sequencing. This first evaluation of NAT2 genes among a Slavic population should provide a basis for clinical and epidemiologic investigations of NAT2 in the Polish population.

MeSH terms

  • Adolescent
  • Alleles*
  • Arylamine N-Acetyltransferase / genetics*
  • Base Sequence
  • Child
  • Child, Preschool
  • Female
  • Genotype
  • Humans
  • Male
  • Molecular Sequence Data
  • Nucleotides / genetics
  • Point Mutation*
  • Poland
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length


  • Nucleotides
  • Arylamine N-Acetyltransferase