Twenty One Novel Single Nucleotide Polymorphisms (SNPs) of the CYP2A6 Gene in Japanese and Caucasians

• Published in: DRUG METABOLISM AND PHARMACOKINETICS Vol. 17; no. 5; pp. 482 - 487
• Main Authors: Kiyotani, Kazuma, Fujieda, Masaki, Yamazaki, Hiroshi, Shimada, Tsutomu, Guengerich, F. Peter, Parkinson, Andrew, Nakagawa, Kazuko, Ishizaki, Takashi, Kamataki, Tetsuya
• Format: Journal Article
• Language: English; Japanese
• Published: England Elsevier Ltd 2002; Japanese Society for the Study of Xenobiotics
• Subjects: genetic polymorphism; genotyping; intron; P450 2A6; racial difference; P450 2A6; racial difference; intron; genetic polymorphism; genotyping
• ISSN: 1347-4367; 1880-0920
• DOI: 10.2133/dmpk.17.482

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 (Gly5Arg, Ser29Asn, Lys194Glu, and Arg203Ser), 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.