Two Novel Single Nucleotide Polymorphisms (SNPs) of the FMO3 Gene in Japanese

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) (21246T>Aand 21265C>T) causing amino acid substitutions (Asp198Glu and Arg205Cys in exon 5), respectively. The Asp198Glu allele also presented together with known SNPs (20852 C>T in exon4, 20960_20962 CTT deletion, 21115G>Ain 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′.