Detection of one single mutation predicts thiopurine S-methyltransferase activity in a population of Saami in northern Norway.
Clin Pharmacol Ther
; 70(2): 183-8, 2001 Aug.
Article
en En
| MEDLINE
| ID: mdl-11503013
Thiopurine S-methyltransferase (TPMT) activity exhibits genetic polymorphism. The purpose of this investigation was to identify TPMT mutant alleles in the Saami population as a basis of developing genotyping tests for prediction of TPMT activity. The most predominant allele in Saamis (n = 194) was the TPMT*3C allele (A719G mutation) representing 92% of the mutant alleles, with an estimated allelic frequency of 3.3%. The most frequent allele in Caucasians (n = 66) living in the same geographic area was the TPMT*3A (A719G and G460A mutations) representing 91% of the mutant alleles, with an estimated allelic frequency of 3.4%. A test for one mutation, A719G, may prospectively identify more than 90% of the Saami individuals who require reduction in thiopurine dose to avoid hematopoietic toxicity. In a Norwegian population, comprising both the major Caucasian population and a minor Saami population, the same genotyping tests (eg, tests for the A719G and G460A mutations) may be used.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Población Blanca
/
Metiltransferasas
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adult
/
Female
/
Humans
/
Male
País/Región como asunto:
Europa
Idioma:
En
Revista:
Clin Pharmacol Ther
Año:
2001
Tipo del documento:
Article
País de afiliación:
Noruega
Pais de publicación:
Estados Unidos