CYP2D6*11 and challenges in clinical genotyping of the highly polymorphic CYP2D6 gene.
CYP2D6 is genotyped clinically for prediction of response to tamoxifen, psychotropic drugs and other medications. Phenotype prediction is dependent upon accurate genotyping. The CYP Allele Nomenclature Committee maintains the allelic nomenclature for CYP2D6; however, in some cases, the list of polymorphisms associated with a given allele is incomplete. Clinical laboratories and in vitro diagnostic manufacturers rely upon this nomenclature, in addition to the literature, to infer allelic function and haplotypes and when they design CYP2D6-testing platforms. This article provides more complete sequencing data for the CYP2D6*11 allele and describes the difficulties encountered in genotyping CYP2D6 when incomplete data are available. The CYP Allele Nomenclature Committee should provide clear information about the completeness of the original data used to define each allele.
Nucleotide Polymorphism Laboratory, Department of Laboratory Medicine & Pathology, Mayo Clinic, 200 1st Street SW, Rochester, MN 55902, USA.
Jennifer M
JM
Skierka
Denise L
DL
Walker
Sandra E
SE
Peterson
Dennis J
DJ
O'Kane
John Logan
JL
Black
D000483:Alleles; D019389:Cytochrome P-450 CYP2D6 / Q000145:classification* / Q000235:genetics*; D017353:Gene Deletion; D020440:Gene Duplication; D005838:Genotype; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
D019389:Cytochrome P-450 CYP2D6