uu.seUppsala University Publications
Change search
ReferencesLink to record
Permanent link

Direct link
A simplified assay for the arylamine N-acetyltransferase 2 polymorphism validated by phenotyping with isoniazid
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Clinical pharmacogenomics and osteoporosis.ORCID iD: 0000-0002-6368-2622
Show others and affiliations
Responsible organisation
1997 (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
Abstract [en]

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.
Keyword [en]
n-acetyltransferase 2, genotyping, pharmacogenetics, NAT2, isoniazid
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-54709DOI: 10.1136/jmg.34.9.758PubMedID: 9321764 OAI: oai:DiVA.org:uu-54709DiVA: diva2:82618
Available from: 2008-01-18 Created: 2008-01-18 Last updated: 2016-02-19

Open Access in DiVA

No full text

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Wadelius, Mia
By organisation
Clinical pharmacogenomics and osteoporosisDepartment of Medical Sciences
In the same journal
Journal of Medical Genetics
Medical and Health Sciences

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 107 hits
ReferencesLink to record
Permanent link

Direct link