METHODS AND COMPOSITIONS FOR DETECTING DIHYDROPYRIMIDINE DEHYDROGENASE SPLICING MUTATIONS

摘要

The present invention provides compositions, methods and kits for the detection of genetic polymorphisms or mutations related to dihydropyrimidine dehydrogenase deficiency (DPDD). The polymorphism or mutations generally occur in the dihydropyrimidine dehydrogenase DPD gene in chromosome 1. Also provided are mutant forms of DPD.