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Titolo:
Rapid detection of the CYP2D6*3, CYP2D6*4, and CYP2D6*6 alleles by tetra-primer PCR and of the CYP2D6*5 allele by multiplex long PCR
Autore:
Hersberger, M; Marti-Jaun, J; Rentsch, K; Hanseler, E;
Indirizzi:
Univ Zurich Hosp, Inst Clin Chem, CH-8091 Zurich, Switzerland Univ Zurich Hosp Zurich Switzerland CH-8091 CH-8091 Zurich, Switzerland
Titolo Testata:
CLINICAL CHEMISTRY
fascicolo: 8, volume: 46, anno: 2000,
parte:, 1
pagine: 1072 - 1077
SICI:
0009-9147(200008)46:8<1072:RDOTCC>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
CYP2D6 GENE DUPLICATION; ULTRARAPID METABOLIZERS; POOR METABOLIZERS; DEBRISOQUINE; POPULATION; POLYMORPHISM; AMPLIFICATION; FREQUENCIES; PHENOTYPE; SEQUENCE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
24
Recensione:
Indirizzi per estratti:
Indirizzo: Hersberger, M Univ Zurich Hosp, Inst Clin Chem, Raemistr 100, CH-8091 Zurich, Switzerland Univ Zurich Hosp Raemistr 100 Zurich Switzerland CH-8091 nd
Citazione:
M. Hersberger et al., "Rapid detection of the CYP2D6*3, CYP2D6*4, and CYP2D6*6 alleles by tetra-primer PCR and of the CYP2D6*5 allele by multiplex long PCR", CLIN CHEM, 46(8), 2000, pp. 1072-1077

Abstract

Background: Interindividual differences in CYP2D6 activity range from total absence of metabolism of certain drugs to ultrafast metabolism and can produce adverse effects or lack of therapeutic effect under standard therapy. Several mutations have been described in the CYP2D6 gene that abolish CYP2D6 activity. However, four mutations explain the majority of the poor metabolizers. We describe four single-tube assays to detect these mutations. Methods: Three tetra-primer PCR assays were developed to detect the mutations in the CYP2D6*3, *4,and *6 alleles. In these single-tube assays, the CYP2D6 locus is amplified directly, followed by the allele-specific amplification on this new template. In addition, a multiplex long PCR was developed to genotype the CYP2D6*5 allele. Two long PCR amplifications for detection of the deletion of CYP2D6 (*5) and for detection of the CYP2D6 gene region were combined in one tube. Results: Analysis of 114 alleles showed no CYP2D6*3 allele, and allele frequencies of 28.1% for CYP2D6*4, 2.6% for CYP2D6*5, and 0.9% for CYP2D6*6. Re-analysis of the DNA samples by restriction fragment length polymorphism and sequencing analysis confirmed these results. Furthermore, re-analysis ofsequenced genomic DNA by tetra-primer PCR analysis (7-11 times) always showed identical results. Conclusions: Our set of single-tube assays allows rapid and reproducible genotyping of the majority of CYP2D6 poor metabolizers. (C) 2000 American Association for Clinical chemistry.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/01/20 alle ore 03:44:19