Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/119434
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Type: Journal article
Title: Development of a PCR-based strategy for CYP2D6 genotyping including gene multiplication of worldwide potential use
Author: Dorado, P.
Cáceres, M.
Pozo-Guisado, E.
Wong, M.
Licinio, J.
LLerena, A.
Citation: BioTechniques, 2005; 39(4S):571-574
Publisher: Future Science
Issue Date: 2005
ISSN: 0736-6205
1940-9818
Statement of
Responsibility: 
Pedro Dorado, Macarena C. Cáceres, Eulalia Pozo-Guisado, Ma-Li Wong, Julio Licinio and Adrián Llerena
Abstract: There is growing consensus on the potential use of pharmacogenetics in clinical practice, and hopes have been expressed for application to the improvement of global health. However, two major challenges may lead to widening the "biotechnological gap" between the developing and the industrial world;first the unaffordability of some current technologies for poorer countries, and second the necessity of analyzing all described alleles for every clinical case due to the inability to predict the ethnic group of a given patient. Because of its role in the metabolism of a number of drugs, cytochrome P450 2D6 (CYP2D6) is an excellent candidate for use in the optimization of drug therapy. CYP2D6 is a highly polymorphic gene locus with more than 50 variant alleles, and subjects can be classified as poor metabolizers (PM), extensive metabolizers (EM), or ultrarapid metabolizers (UM) of a given CYP2D6 substrate. Several strategies and methods for CYP2D6 genotyping exist. Some, however, are expensive and laborious. The aim of this study was to design a PCR-based genotyping methodology to allow rapid, straightforward, and inexpensive identification of 90%-95% of CYP2D6 PM or UM genotypes for routine clinical use, independent of the individual's ethnic group. CYP2D6 is amplified in initial extra long PCRs (XL-PCRs), which subsequently undergo fragment-length polymorphism analysis for the determination of carriers of CYP2D6 allelic variants. The same XL-PCRs are also used for the determination of CYP2D6 multiplication and 2D6*5 allele (abolished activity). The application of this new strategy for the detection of CYP2D6 mutated alleles and multiplications to routine clinical analysis will enable the PM and UM phenotypes to be predicted and identified at a reasonable cost in a large number of individuals at most locations.
Keywords: Cytochrome P-450 CYP2D6; Polymerase Chain Reaction; Sequence Analysis, DNA; Pharmacogenetics; Biotechnology; Gene Duplication; Genotype; Phenotype; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length; Alleles; Genetic Variation
Rights: © 2005 Author(s). BioTechniques publishes under the CC-BY license unless otherwise stated. This means that readers will be able to share and adapt our content for any purpose, including commercial, provided appropriate credit is given. This license complies with most mandates.
RMID: 0030048522
DOI: 10.2144/000112044
Appears in Collections:Medicine publications

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