Novel variant of CYP2D6*6 is undetected by a commonly used genotyping procedure

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. aprocedure for the identification of the novel cyp2d6*6 variant using restriction enzyme treatment of amplified fragments was developed. copyright © 2011 by institute of pharmacology polish academy of sciences.