title: Twenty one novel single nucleotide polymorphisms (SNPs) of the CYP2A6 gene in Japanese and Caucasians.
abstract: We sequenced all nine exons and exon-intron junctions of the CYP2A6 gene from 33 Japanese and 28 Caucasians. We found twenty one single nucleotide polymorphisms (SNPs) including four SNPs causing amino acid substitutions, one silent SNP in exon 5, one SNP in a 5'-flanking region, four SNPs in a 3'-untranslated region, and eleven SNPs in introns. The four mutations (13G>A and 86G>A in exon 1, and 2134A>G and 2161C>T in exon 4) causing amino acid substitutions (Gly(5)Arg, Ser(29)Asn, Lys(194)Glu, and Arg(203)Ser), respectively, were as follows: SNP, 020719Kiyotani004; GENE NAME, CYP2A6; ACCESSION NUMBER, NG_000008.4; LENGTH, 25 base; 5'-ATGCTGGCCTCAG/AGGATGCTTCTGG-3'. SNP, 020719Kiyotani005; GENE NAME, CYP2A6; ACCESSION NUMBER, NG_000008.4; LENGTH, 25 base; 5'-AGCAGAGGAAGAG/ACAAGGGGAAGCT-3'. SNP, 020719Kiyotani011; GENE NAME, CYP2A6; ACCESSION NUMBER, NG_000008.4; LENGTH, 25 base; 5'-CGCTTTGACTATA/GAGGACAAAGAGT-3'. SNP, 020719Kiyotani012; GENE NAME, CYP2A6; ACCESSION NUMBER, NG_000008.4; LENGTH, 25 base; 5'-CTGTCACTGTTGC/TGCATGATGCTAG-3'. New alleles having these SNPs were designated as CYP2A6( *)13-CYP2A6( *)16.
authors.affiliation: Laboratory of Drug Metabolism, Graduate School of Pharmaceutical Sciences, Hokkaido University, Sapporo, Japan.
authors.forename: Kazuma
authors.initials: K
authors.lastname: Kiyotani
authors.forename: Masaki
authors.initials: M
authors.lastname: Fujieda
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Yamazaki
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Shimada
authors.forename: F Peter
authors.initials: FP
authors.lastname: Guengerich
authors.forename: Andrew
authors.initials: A
authors.lastname: Parkinson
authors.forename: Kazuko
authors.initials: K
authors.lastname: Nakagawa
authors.forename: Takashi
authors.initials: T
authors.lastname: Ishizaki
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Kamataki