HUMAN <i>FMO3</i> GENE MUTATIONS AND POLYMORPHISMS, AND USES THEREOF

摘要

The present invention relates to human FMO3 gene polymorphisms and more particularly to uses thereof in the diagnosis of trimethylaminuria. There is provided a method for detecting an altered metabolism of a substrate of a flavin-containing monooxygenase form 3 (FMO3) enzyme in an individual, detecting a susceptibility of an individual to a substrate of the FMO3 enzyme in an individual, and for detecting a predisposition of an individual to a disorder associated with an exposure to a heteroatom-containing chemical compound, by detecting mutations or polymorphic variants of the FMO3 gene.