DETERMINATION OF HUMAN NAT2 ACETYLATOR GENOTYPE BY RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISM AND ALLELE-SPECIFIC AMPLIFICATION

The human N-acetylation polymorphism, encoded by the NAT2 gene locus, has been associated with higher incidence and/or severity to the adver se effects of therapeutic drugs, and to the carcinogenic actions of en vironmental and occupational chemicals. In this paper, we describe an efficient method of restriction fragment-length polymorphism and allel e-specific amplification analysis which distinguishes between each of the 15 (NAT24, *5A, *5B, *5C, *6A, *6B, *7A, *7B, *12A, *12B, *13, *1 4A, 14B, *17, *18) NAT2 alleles that have been identified in human po pulations. The method should have broad applicability to improvement o f drug therapy and to molecular epidemiology investigations of genetic predisposition to cancer and other diseases. (C) 1995 Academic Press, Inc.