Twenty one novel single nucleotide polymorphisms (SNPs) of the CYP2A6 gene in Japanese and Caucasians

Kazuma Kiyotani; Masaki Fujieda; Hiroshi Yamazaki; Tsutomu Shimada; F Peter Guengerich; Andrew Parkinson; Kazuko Nakagawa; Takashi Ishizaki; Tetsuya Kamataki

doi:10.2133/dmpk.17.482

Twenty one novel single nucleotide polymorphisms (SNPs) of the CYP2A6 gene in Japanese and Caucasians

Drug Metab Pharmacokinet. 2002;17(5):482-7. doi: 10.2133/dmpk.17.482.

Authors

Kazuma Kiyotani¹, Masaki Fujieda, Hiroshi Yamazaki, Tsutomu Shimada, F Peter Guengerich, Andrew Parkinson, Kazuko Nakagawa, Takashi Ishizaki, Tetsuya Kamataki

Affiliation

¹ Laboratory of Drug Metabolism, Graduate School of Pharmaceutical Sciences, Hokkaido University, Sapporo, Japan.

PMID: 15618701
DOI: 10.2133/dmpk.17.482

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.