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A simplified assay ...
A simplified assay for the arylamine N-acetyltransferase 2 polymorphism validated by phenotyping with isoniazid
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Smith, C.A. (author)
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- Wadelius, Mia (author)
- Uppsala universitet,Klinisk farmakogenomik och osteoporos
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Gough, A.C. (author)
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Harrison, D.J. (author)
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Wolf, C.R. (author)
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- Rane, Anders (author)
- Uppsala universitet,Institutionen för medicinska vetenskaper,Klinisk farmakologi, A Rane
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(creator_code:org_t)
- BMJ, 1997
- 1997
- English.
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In: Journal of Medical Genetics. - : BMJ. - 0022-2593 .- 1468-6244. ; 34:9, s. 758-60
- Related links:
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https://jmg.bmj.com/...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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- 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.
Keyword
- n-acetyltransferase 2
- genotyping
- pharmacogenetics
- NAT2
- isoniazid
- MEDICINE
- MEDICIN
Publication and Content Type
- ref (subject category)
- art (subject category)
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