Slow acetylator mutations in the human polymorphic N-acetyltransferase gene in 786 Asians, blacks, Hispanics, and whites: application to metabolic epidemiology

Am J Hum Genet. 1993 Apr;52(4):827-34.


Our aim was to determine the population frequencies of the major slow acetylator alleles of the polymorphic N-acetyltransferase (NAT2) gene, whose locus maps to chromosome 8. We used allele-specific PCR amplification on 786 dried blood spots obtained from Hong Kong Chinese, U.S. Koreans, U.S. blacks, U.S. Hispanics, Germans, and U.S. whites. Our results show that four slow acetylator alleles can be detected as mutations at positions 481, 590, and 857 in the NAT2 gene. Recognized base substitutions at positions 341 and 803 need not be determined, because they were almost always associated with the 481T mutation. The known mutation at position 282 was strongly associated with the 590A mutation. The 481T, 590A, and 857A mutations accounted for virtually all of the slow acetylator alleles in Asian and white populations. The 857A mutation proved to be an Asiatic allele. The results will be useful in large-scale epidemiologic studies of cancer and other conditions potentially associated with the acetylator polymorphism.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acetylation
  • Adolescent
  • Adult
  • Alleles
  • Arylamine N-Acetyltransferase / genetics*
  • Arylamine N-Acetyltransferase / metabolism
  • Asian People / genetics
  • Base Sequence
  • Black People / genetics
  • Carcinogens / metabolism*
  • DNA Mutational Analysis
  • DNA-Cytosine Methylases
  • Electrophoresis, Agar Gel
  • Electrophoresis, Polyacrylamide Gel
  • Gene Frequency
  • Genotype
  • Germany
  • Hispanic or Latino / genetics
  • Humans
  • Inactivation, Metabolic / genetics*
  • Jews / genetics
  • Middle Aged
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction / methods
  • Polymorphism, Genetic*
  • United States
  • White People / genetics


  • Carcinogens
  • DNA modification methylase DdeI
  • DNA-Cytosine Methylases
  • Arylamine N-Acetyltransferase