Determination of human NAT2 acetylator genotype by restriction fragment-length polymorphism and allele-specific amplification

Anal Biochem. 1995 Nov 1;231(2):413-20. doi: 10.1006/abio.1995.9978.


The human N-acetylation polymorphism, encoded by the NAT2 gene locus, has been associated with higher incidence and/or severity to the adverse effects of therapeutic drugs, and to the carcinogenic actions of environmental and occupational chemicals. In this paper, we describe an efficient method of restriction fragment-length polymorphism and allele-specific amplification analysis which distinguishes between each of 15 (NAT2*4, *5A, *5B, *5C, *6A, *6B, *7A, *7B, *12A, *12B, *13, *14A, *14B, *17, *18) NAT2 alleles that have been identified in human populations. The method should have broad applicability to improvement of drug therapy and to molecular epidemiology investigations of genetic predisposition to cancer and other diseases.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Acetylation
  • Alleles
  • Arylamine N-Acetyltransferase / genetics*
  • Base Sequence
  • Genotype
  • Humans
  • Isoenzymes / genetics*
  • Molecular Sequence Data
  • Polymerase Chain Reaction / methods*
  • Polymorphism, Restriction Fragment Length*


  • Isoenzymes
  • Arylamine N-Acetyltransferase