title: Cytochrome P450 polymorphism--molecular, metabolic, and pharmacogenetic aspects. IV. Application of long polymerase chain reaction for identification of CYP2D6 gene duplication.
abstract: In the human organism 58 cytochrome P450 (CYP) isoenzymes belonging to 18 families have been described. Isoenzyme CYP2D6 is an important human xenobiotic-metabolizing enzyme. CYP2D6 biotransforms a significant number of drugs, widely used in clinical practice, such as antidepressants, neuroleptics, antiarrhythmics, analgesics, antiemetics and anticancer agents. The occurrence of polymorphic variants of the enzyme results in different metabolic capacity ranging from poor to ultrarapid. Ultrarapid metabolizer phenotype explains lack of response and decreased levels of drugs which are metabolized by CYP2D6. Therefore, the identification of ultrarapid metabolizers as potential non-compliance cases requiring dose adjustment, has serious clinical importance. In this study we evaluate a long-PCR procedure for detecting CYP2D6 gene duplication.
authors.affiliation: Department of Biochemistry and Clinical Chemistry, Pharmaceutical Faculty, Medical University of Warsaw, 1 Banacha St., 02-097 Warszawa, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Pułczyńska
authors.forename: Jacek
authors.initials: J
authors.lastname: Łukaszkiewicz
authors.forename: Marcin
authors.initials: M
authors.lastname: Wojnar
authors.forename: Piotr
authors.initials: P
authors.lastname: Tomaszewski
authors.forename: Grazyna
authors.initials: G
authors.lastname: Kubiak-Tomaszewska
authors.forename: Jan
authors.initials: J
authors.lastname: Pachecka
mesh_terms: D019389:Cytochrome P-450 CYP2D6 / Q000235:genetics* / Q000378:metabolism; D020440:Gene Duplication; D005838:Genotype; D006801:Humans; D010597:Pharmacogenetics; D010641:Phenotype; D016133:Polymerase Chain Reaction / Q000379:methods*; D015203:Reproducibility of Results
chemical_list: D019389:Cytochrome P-450 CYP2D6