Sökning: onr:"swepub:oai:DiVA.org:uu-54709" >
A simplified assay ...
A simplified assay for the arylamine N-acetyltransferase 2 polymorphism validated by phenotyping with isoniazid
-
Smith, C.A. (författare)
-
- Wadelius, Mia (författare)
- Uppsala universitet,Klinisk farmakogenomik och osteoporos
-
Gough, A.C. (författare)
-
visa fler...
-
Harrison, D.J. (författare)
-
Wolf, C.R. (författare)
-
- Rane, Anders (författare)
- Uppsala universitet,Institutionen för medicinska vetenskaper,Klinisk farmakologi, A Rane
-
visa färre...
-
(creator_code:org_t)
- BMJ, 1997
- 1997
- Engelska.
-
Ingår i: Journal of Medical Genetics. - : BMJ. - 0022-2593 .- 1468-6244. ; 34:9, s. 758-60
- Relaterad länk:
-
https://jmg.bmj.com/...
-
visa fler...
-
https://urn.kb.se/re...
-
https://doi.org/10.1...
-
visa färre...
Abstract
Ämnesord
Stäng
- 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.
Nyckelord
- n-acetyltransferase 2
- genotyping
- pharmacogenetics
- NAT2
- isoniazid
- MEDICINE
- MEDICIN
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas