title: Novel variant of CYP2D6*6 is undetected by a commonly used genotyping procedure.
abstract: We report the identification of a novel and defective variant of the gene encoding cytochrome P450 2D6 (CYP2D6). This novel variant is a subtype of CYP2D6*6 that was undetected by a commercially available 5' exonuclease-based assay. Because the novel variant was found in only one of 609 individuals, it represents a rare subtype of CYP2D6*6 that may be restricted to a single family or a subpopulation. A procedure for the identification of the novel CYP2D6*6 variant using restriction enzyme treatment of amplified fragments was developed.
authors.affiliation: Institute of Biological Psychiatry, Mental Health Centre Sct. Hans, Copenhagen University Hospitals, 2 Boserupvej, DK-4000, Roskilde, Denmark. henrik.berg.rasmussen@regionh.dk
authors.forename: Henrik Berg
authors.initials: HB
authors.lastname: Rasmussen
authors.forename: Thomas
authors.initials: T
authors.lastname: Werge
mesh_terms: D019389:Cytochrome P-450 CYP2D6 / Q000235:genetics*; D014644:Genetic Variation; D005838:Genotype; D060005:Genotyping Techniques / Q000379:methods*; D006801:Humans; D043264:Phosphodiesterase I / Q000378:metabolism; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D019389:Cytochrome P-450 CYP2D6; D043264:Phosphodiesterase I