title: Three novel single nucleotide polymorphisms (SNPs) of the CYP2B6 gene in Japanese individuals.
abstract: We sequenced all exons and exon-intron junctions of the CYP2B6 gene from 200 Japanese individuals. We found three novel single nucleotide polymorphisms (SNPs) (1375A>G, 1427G>A and 1454A>T) causing amino acid substitutions (Met(459)Val, Gly(476)Asp and Gln(485)Leu in exon 9), respectively. The detected SNP was as follows: 1) SNP, 031226Hiratsuka01; GENE NAME, CYP2B6; ACCESSION NUMBER, AC023172; LENGTH, 25 base; 5'-CAGAACTTCTCCA/GTGGCCAGCCCCG-3'. 2) SNP, 031226Hiratsuka02; GENE NAME, CYP2B6; ACCESSION NUMBER, AC023172; LENGTH, 25 base; 5'-CCCAGGAGTGTGG/ATGTGGGCAAAAT-3'. 3) SNP, 031226Hiratsuka03; GENE NAME, CYP2B6; ACCESSION NUMBER, AC023172; LENGTH, 25 base; 5'-CCCCAACATACCA/TGATCCGCTTCCT-3'.
authors.affiliation: Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University, Sendai, Japan.
authors.forename: Masahiro
authors.initials: M
authors.lastname: Hiratsuka
authors.forename: Yudai
authors.initials: Y
authors.lastname: Hinai
authors.forename: Yumiko
authors.initials: Y
authors.lastname: Konno
authors.forename: Hisayoshi
authors.initials: H
authors.lastname: Nozawa
authors.forename: Shoetsu
authors.initials: S
authors.lastname: Konno
authors.forename: Michinao
authors.initials: M
authors.lastname: Mizugaki
mesh_terms: D019943:Amino Acid Substitution; D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics*; D065702:Cytochrome P-450 CYP2B6; D017931:DNA Primers; D005091:Exons / Q000235:genetics; D005787:Gene Frequency; D006801:Humans; D007438:Introns / Q000235:genetics; D007564:Japan / Q000453:epidemiology; D008969:Molecular Sequence Data; D010089:Oxidoreductases, N-Demethylating / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; D001189:Aryl Hydrocarbon Hydroxylases; C585599:CYP2B6 protein, human; D065702:Cytochrome P-450 CYP2B6; D010089:Oxidoreductases, N-Demethylating