title: Two novel single nucleotide polymorphisms (SNPs) of the FMO3 gene in Japanese.
abstract: We sequenced all exons and exon-intron junctions of the flavin-containing monooxygenase 3 (FMO3) gene from 27 Japanese individuals who are trimethylaminuria volunteers judged by self-reported analysis. We found two novel single nucleotide polymorphisms (SNPs) (21246 T>A and 21265 C>T) causing amino acid substitutions (Asp(198)Glu and Arg(205)Cys in exon 5), respectively. The Asp(198)Glu allele also presented together with known SNPs (20852 C>T in exon4, 20960_20962 CTT deletion, 21115 G>A in intron 4, and 21243_21244 TG deletion in exon 5) in the same allele of the FMO3 gene to form a novel haplotype. These sequences are as follows:1) SNP, 030609Fujieda019; GENE NAME, FMO3; ACCESSION NUMBER, AL021026; LENGTH, 25 base; 5'-TTCGGGCTG(TG/-)AT/AATTGCCACAGAA-3'.2) SNP, 030609Fujieda020; GENE NAME, FMO3; ACCESSION NUMBER, AL021026; LENGTH, 25 base; 5'-ACAGAACTCAGCC/TGCACAGCAGAAC-3'.
authors.affiliation: Laboratory of Drug Metabolism, Graduate School of Pharmaceutical Sciences, Hokkaido University, Sapporo, Japan. fujieda@pharm.hokudai.ac.jp
authors.forename: Masaki
authors.initials: M
authors.lastname: Fujieda
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Yamazaki
authors.forename: Masahiro
authors.initials: M
authors.lastname: Togashi
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Saito
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Kamataki