| Literature DB >> 9321764 |
C A Smith1, M Wadelius, A C Gough, D J Harrison, C R Wolf, A Rane.
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.Entities:
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Year: 1997 PMID： 9321764 PMCID： PMC1051062 DOI： 10.1136/jmg.34.9.758
Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318