title: Characterization of a genotype previously designated as CYP2A6 D-type: CYP2A6*4B, another entire gene deletion allele of the CYP2A6 gene in Japanese.
abstract: CYP2A6 is known as an enzyme responsible for the metabolism of several clincally used drugs such as tegafur. Previously, we found two novel genotypes of the CYP2A6 gene, D-type and E-type, and the E-type was clarified to be homozygous for the CYP2A6*4A allele. On the other hand, since the D-type was reported to lack regions from at least intron 5 to a part of exon 9 of the CYP2A6 gene, it caused a misunderstanding that the D-type would be a partial CYP2A6 gene-deleted allele. In this paper, we demonstrate that the D-type is a genotype heterozygous for the CYP2A6*4A and another novel entire CYP2A6 gene-deleted allele, CYP2A6*4B, by analyzing a Japanese family including parents genotyped as the CYP2A6*4A/4A and CYP2A6*1A/*4B, respectively.
authors.affiliation: Laboratory of Drug Metabolism, Division of Pharmacobiodynamics, Graduate School of Pharmaceutical Sciences, Hokkaido University, Sapporo, Japan. ariyoshi@ho.chiba-u.ac.jp
authors.forename: Noritaka
authors.initials: N
authors.lastname: Ariyoshi
authors.forename: Hiromi
authors.initials: H
authors.lastname: Sekine
authors.forename: Katsuhiko
authors.initials: K
authors.lastname: Saito
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Kamataki
mesh_terms: D000483:Alleles; D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics*; D065637:Cytochrome P-450 CYP2A6; D017931:DNA Primers / Q000737:chemistry; D005260:Female; D017353:Gene Deletion; D014644:Genetic Variation; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008297:Male; D006899:Mixed Function Oxygenases / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D017931:DNA Primers; D006899:Mixed Function Oxygenases; D001189:Aryl Hydrocarbon Hydroxylases; C585710:CYP2A6 protein, human; D065637:Cytochrome P-450 CYP2A6