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 of the dihydropyrimidine dehydrogenase deficiency (DPDD). The polymorphisms or mutations generally occur in the dihydropyrimidine dehydrogenase (DPD) gene in chromosome 1. Also provided are mutant forms of DPD.