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Titolo:
Genetic mechanisms for duplication and multiduplication of the human CYP2D6 gene and methods for detection of duplicated CYP2D6 genes
Autore:
Lundqvist, E; Johansson, I; Ingelman-Sundberg, M;
Indirizzi:
Karolinskadenst, Inst Environm Med, Div Mol Toxicol, S-17177 Stockholm, Swe Karolinska Inst Stockholm Sweden S-17177 Toxicol, S-17177 Stockholm, Swe
Titolo Testata:
GENE
fascicolo: 2, volume: 226, anno: 1999,
pagine: 327 - 338
SICI:
0378-1119(19990121)226:2<327:GMFDAM>2.0.ZU;2-#
Fonte:
ISI
Lingua:
ENG
Soggetto:
ULTRARAPID METABOLIZERS; AMPLIFICATION; DEBRISOQUINE; SEQUENCE; ALLELES; LOCUS; DELETION; IDENTIFICATION; NOMENCLATURE; POLYMORPHISM;
Keywords:
gene amplification; ultrarapid metabolism; debrisoquine; sparteine; cytochrome P450; drug metabolism;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
31
Recensione:
Indirizzi per estratti:
Indirizzo: Ingelman-Sundberg, M Karolinskadenst, Inst Environm Med, Div Mol Toxicol, S-17177 Stockholm, Swe Karolinska Inst Stockholm Sweden S-17177 kholm, Swe
Citazione:
E. Lundqvist et al., "Genetic mechanisms for duplication and multiduplication of the human CYP2D6 gene and methods for detection of duplicated CYP2D6 genes", GENE, 226(2), 1999, pp. 327-338

Abstract

The polymorphic CYP2D6 gene determines the rates at which several different classes of clinically important drugs are metabolized in vivo. A specificphenotype whereby a subject metabolizes drugs very rapidly (ultrarapid metabolizer, UM) has been shown to be caused by the presence of multiple active CYP2D6 genes on one allele. Hitherto, individuals with 1, 2, 3, 4, 5, or 13 CYP2D6 genes in tandem have been described for various ethnic groups. Inthe present investigation, we present results from restriction mapping of the CYP2D loci of individuals with two or more consecutive CYP2D6 genes, along with sequence analysis of this gene (CYP2D6*2). Our results indicate that alleles with duplicated or multiduplicated genes have occurred through unequal crossover at a specific breakpoint in the 3'-flanking region of the CYP2D6*2B allele with a specific repetitive sequence. In contrast, alleles with 13 copies of the gene are proposed to have been formed by unequal segregation and extrachromosomal replication of the acentric DNA. We present a rapid and efficient PCR-based allele-specific method for the detection of duplicated, multiduplicated, or amplified CYP2D6 genes. (C) 1999 Elsevier Science B.V. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/01/20 alle ore 20:09:20