Structural organization of the human flavin-containing monooxygenase 3 gene (FMO3), the favored candidate for fish-odor syndrome, determined directly from genomic DNA.
Genomics
; 46(2): 260-7, 1997 Dec 01.
Article
en En
| MEDLINE
| ID: mdl-9417913
ABSTRACT
The inherited metabolic disorder trimethylaminuria (fish-odor syndrome) is associated with defective hepatic N-oxidation of dietary-derived trimethylamine catalyzed by flavin-containing monooxygenase (FMO). As FMO3 encodes the major form of FMO expressed in adult human liver, it represents the best candidate gene for the disorder. The structural organization of FMO3 was determined by sequencing the products of exon-to-exon and vectorette PCR, the latter through the use of vectorette libraries constructed directly from genomic DNA. The gene contains one noncoding and eight coding exons. Knowledge of the exon/intron organization of the human FMO3 gene enabled each of the coding exons of the gene, together with their associated flanking intron sequences, to be amplified from genomic DNA and will thus facilitate the identification of mutations in FMO3 in families affected with fish-odor syndrome.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Oxigenasas
/
Errores Innatos del Metabolismo
/
Metilaminas
Límite:
Humans
Idioma:
En
Revista:
Genomics
Asunto de la revista:
GENETICA
Año:
1997
Tipo del documento:
Article
País de afiliación:
Reino Unido