HUMAN iFMO3/i GENE MUTATIONS AND POLYMORPHISMS, AND USES THEREOF

摘要

The present invention relates to human iFMO3/i 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.