Three Novel Single Nucleotide Polymorphisms of the FMO3 Gene in a Japanese Population

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  • SHIMIZU Makiko
    Laboratory of Drug Metabolism and Pharmacokinetics, Showa Pharmaceutical University
  • FUJITA Haruka
    Laboratory of Drug Metabolism and Pharmacokinetics, Showa Pharmaceutical University
  • AOYAMA Takahiko
    Laboratory of Drug Metabolism and Pharmacokinetics, Showa Pharmaceutical University
  • YAMAZAKI Hiroshi
    Laboratory of Drug Metabolism and Pharmacokinetics, Showa Pharmaceutical University

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  We sequenced all exons and exon-intron junctions of the flavin-containing monooxygenase 3 (FMO3) gene from 2 Japanese individuals and their family members, who were case subjects that showed low FMO3 metabolic capacity among a population of self-reported trimethylaminuria Japanese volunteers. We found two novel single nucleotide polymorphisms (SNPs) (21254 C>A and 24006 A>G) causing amino acid substitutions, Thr201Lys in exon 5 and Met260Val in exon 6, respectively. The Thr201Lys and Met260Val also presented together with known SNPs (Glu158Lys-Glu308Gly and Val257Met, respectively) in the same alleles of the FMO3 gene to form novel haplotypes. A SNP (30398 C>T) in the FMO3 gene causing a stop codon at Arg500 in exon 9 was also discovered.<br>    These sequences are as follows:<br>    1) SNP, 060116Shimizu001; GENE NAME, FMO3; ACCESSION NUMBER, AL021026; LENGTH, 25 base; 5′-GTGATATTGCCAC/AAGAACTCAGCCG-3′.<br>    2) SNP, 060116Shimizu002; GENE NAME, FMO3; ACCESSION NUMBER, AL021026; LENGTH, 25 base; 5′-TAC(G/A)TGAAGCAGA/GTGAATGCAAGAT-3′.<br>    3) SNP, 060116Shimizu003; GENE NAME, FMO3; ACCESSION NUMBER, AL021026; LENGTH, 25 base; 5′-CCCATGCAGACAC/TGAGTGGTCGGGA-3′.<br>

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