A simplified assay for the arylamine N-acetyltransferase 2 polymorphism validated by phenotyping with isoniazid. Issue 9 (September 1997)

• Record Type: Journal Article
• Authors: Smith, C A; Wadelius, M; Gough, A C; Harrison, D J; Wolf, C R; Rane, A
• Is Part Of: Journal of medical genetics. Volume 34:Issue 9(1997)
• Page Start: 758
• Page End: 760
• Publication Date: 1997-09
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.34.9.758
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : 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.