A simplified assay for the arylamine N-acetyltransferase 2 polymorphism validated by phenotyping with isoniazid
Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Medical Sciences1997 (English)In: Journal of Medical Genetics, ISSN 0022-2593, E-ISSN 1468-6244, Vol. 34, no 9, 758-60 p.Article in journal (Refereed) Published
Human arylamine N-acetyltransferase (NAT) activity is determined by two distinct genes, NAT1 and NAT2, and the classical acetylation polymorphism in NAT2 has been associated with a variety of disorders, including lupus erythematosus and arylamine induced cancers. Over 50% of the white population exhibit a slow acetylator phenotype. The genetic basis of the defect has been identified and several DNA based assays are available for genotyping studies. We present here a simplified, rapid PCR based assay for the identification of the major slow acetylator genotypes and validate it using isoniazid as probe drug. This assay was 100% predictive of phenotype. The three genotypes (homozygous mutated, heterozygous, and homozygous rapid) corresponded to a trimodal distribution of Ac-INH/INH metabolic ratios (slow, intermediate, and rapid) without overlapping.
Place, publisher, year, edition, pages
1997. Vol. 34, no 9, 758-60 p.
n-acetyltransferase 2, genotyping, pharmacogenetics, NAT2, isoniazid
Medical and Health Sciences
IdentifiersURN: urn:nbn:se:uu:diva-54709DOI: 10.1136/jmg.34.9.758PubMedID: 9321764 OAI: oai:DiVA.org:uu-54709DiVA: diva2:82618