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Titolo:
Rapid and comprehensive determination of cytochrome P450CYP2D6 poor metabolizer genotypes by multiplex polymerase chain reaction
Autore:
Roberts, R; Sullivan, P; Joyce, P; Kennedy, MA;
Indirizzi:
Christchurch Sch Med, Dept Pathol, Christchurch, New Zealand Christchurch Sch Med Christchurch New Zealand Christchurch, New Zealand Christchurch Sch Med, Dept Psychol Med, Christchurch, New Zealand Christchurch Sch Med Christchurch New Zealand Christchurch, New Zealand
Titolo Testata:
HUMAN MUTATION
fascicolo: 1, volume: 16, anno: 2000,
pagine: 77 - 85
SICI:
1059-7794(2000)16:1<77:RACDOC>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
DEBRISOQUINE OXIDATION; IMPAIRED OXIDATION; PCR AMPLIFICATION; CYP2D LOCUS; GENE; POLYMORPHISM; ALLELES; DNA; POPULATION; SPARTEINE;
Keywords:
CYP2D6; poor metabolizers; mutation detection; drug metabolism;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
31
Recensione:
Indirizzi per estratti:
Indirizzo: Kennedy, MA Christchurch Sch Med, Dept Pathol, POB 4345, Christchurch, NewZealand Christchurch Sch Med POB 4345 Christchurch New Zealand aland
Citazione:
R. Roberts et al., "Rapid and comprehensive determination of cytochrome P450CYP2D6 poor metabolizer genotypes by multiplex polymerase chain reaction", HUM MUTAT, 16(1), 2000, pp. 77-85

Abstract

The liver enzyme cytochrome P450 CYP2D6 (debrisoquine di-hydroxylase) metabolizes numerous drugs, including many antidepressants, neuroleptics, antiarrhythmics, and antihypertensive agents. Variability in the gene that encodes this enzyme is an important factor underlying variable drug treatment responses. Some 5-10% of Caucasians lack functional CYP2D6, and the genetic basis of most of these "poor metabolizer" alleles is now well defined. As the CYP2D6 status of a patient can have profound effects on response to drug treatment, it is important to devise methods that permit rapid and economical determination of CYP2D6 genotype. We have developed a robust polymerase chain reaction method that simultaneously identifies the variants CYP2D6 *3, *4, *6, *8, *11, *12, *14, *15, *19, and *20. This constitutes most of the poor metabolizer alleles described in Caucasian and Asian populations. Separate PCR reactions or Southern blots are required for *7, the *5 deletion, and the hybrid alleles *13 and *16. The multiplex assay was validated on 100 individuals previously genotyped by specific polymerase chain reaction-restriction fragment length polymorphism analysis, and proved 100% accuratein this sample. The assay performed consistently with Tag DNA polymerases from various suppliers, within a broad range of temperatures and MgCL2 concentrations, and using genomic DNA prepared by a range of methods including extraction from dried blood spots on card. This muitiplexed, amplification refractory mutation system (ARMS) method is reliable, rapid, relatively cheap, amenable to automation, and offers the advantages of minimal sample handling with no requirement for restriction enzymes as in earlier CYP2D6 assays. Hum Mutat 16:77-85, 2000. (C) 2000 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/01/20 alle ore 16:51:15