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

We sequenced all exons and exon­intron junctions of the flavin­containing 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 self­reported trimethylaminuria Japanese volunteers. We fou...

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Bibliographic Details
Published in:DRUG METABOLISM AND PHARMACOKINETICS 2006-01, Vol.21 (3), p.245-247
Main Authors: Shimizu, Makiko, Fujita, Haruka, Aoyama, Takahiko, Yamazaki, Hiroshi
Format: Article
Language:eng ; jpn
Subjects:
Alleles
Amino Acid Substitution - genetics
Asian Continental Ancestry Group - genetics
Base Sequence
Exons - genetics
Female
fish­odor syndrome
flavin­containing monooxygenase
genetic polymorphism
Haplotypes - genetics
Humans
Japan
Japanese
Male
Metabolism, Inborn Errors - genetics
Metabolism, Inborn Errors - urine
Methylamines - urine
Mutation - genetics
Oxygenases - genetics
Pedigree
Polymorphism, Single Nucleotide - genetics
trimethylaminuria
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Summary:We sequenced all exons and exon­intron junctions of the flavin­containing 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 self­reported trimethylaminuria Japanese volunteers. We found two novel single nucleotide polymorphisms (SNPs) (21254 C>A and 24006 A>G) causing amino acid substitutions, Thr201 Lys in exon 5 and Met260Val in exon 6, respectively. The Thr201 Lys and Met260 Val also presented together with known SNPs (Glu158 Lys­Glu308Gly and Val257 Met, 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. These sequences are as follows:1)SNP, 060116Shimizu001; GENE NAME, FMO3; ACCESSION NUMBER, AL021026; LENGTH, 25 base; 5′­GTGATATTGCCAC/AAGAACTCAGCCG­3′.2)SNP, 060116Shimizu002; GENE NAME, FMO3; ACCESSION NUMBER, AL021026; LENGTH, 25 base; 5′­TAC(G/A)TGAAGCAGA/GTGAATGCAAGAT­3′.3)SNP, 060116Shimizu003; GENE NAME, FMO3; ACCESSION NUMBER, AL021026; LENGTH, 25 base; 5′­CCCATGCAGACAC/TGAGTGGTCGGGA­3′.
ISSN:1347-4367
1880-0920
DOI:10.2133/dmpk.21.245