Missense and nonsense mutations of the flavin-containing monooxygenase 3 gene in a Japanese cohort

被引：14
作者：
Shimizu, Makiko [1 ]
Tomioka, Sachiko [1 ]
Murayama, Norie [1 ]
Yamazaki, Hiroshi [1 ]
机构：
[1] Showa Pharmaceut Univ, Lab Drug Met & Pharmacokinet, Tokyo 1948543, Japan
来源：
DRUG METABOLISM AND PHARMACOKINETICS | 2007年 / 22卷 / 01期
关键词：
FMO3; trimethylaminuria; fish-like odor syndrome; genetic polymorphism; Japanese;
D O I：
10.2133/dmpk.22.61
中图分类号：
R9 [药学];
学科分类号：
1007 ;
摘要：
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(114)Ser in exon 4, Trp(388)Stop in exon 7, Gln(470)Stop in exon 9, respectively. The Trp(388)Stop and Gln(470)Stop also presented together with known SNPs, Val(257)Met and Glu(158)Lys, respectively, in the same alleles of the FMO3 gene to form novel haplotypes.
引用
收藏
页码：61 / 64
页数：4
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