We sequenced all exons and exon-intron junctions of the flavin-containing monooxygenase 3 (
FMO3) gene from 3 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 (n=50). We found three novel single nucleotide polymorphisms (SNPs) (
g. 20752 A>G,
g. 27400 G>A, and
g. 30308 C>T) causing an amino acid substitution and stop codons, Asn
114Ser in exon 4, Trp
388Stop in exon 7, and Gln
470Stop in exon 9, respectively. The Trp
388Stop and Gln
470Stop also presented together with known SNPs, Val
257Met and Glu
158Lys, respectively, in the same alleles of the
FMO3 gene to form novel haplotypes.
These sequences are as follows:
1) SNP, 060825Shimizu004; GENE NAME,
FMO3; ACCESSION NUMBER, AL021026; LENGTH, 25 base; 5′-TATCCAGTGTAA
A/GTAAACATCCTGA-3′.
2) SNP, 060825Shimizu005; GENE NAME,
FMO3; ACCESSION NUMBER, AL021026; LENGTH, 25 base; 5′-CCAGTCCCGCTG
G/AGCAGCACAAGTA-3′.
3) SNP, 060825Shimizu006; GENE NAME,
FMO3; ACCESSION NUMBER, AL021026; LENGTH, 25 base; 5′-TGTAGTCCCTAC
C/TAGTTTAGGCTGG-3′.
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