The United States of America, as Represented by the Secretary, Department of Health and Human Services

The United States of America as Represented by the Department of Health

Pedro Fernandez-Salguero

Frank J Gonzalez

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.

Methods and compositions for detecting dihydropyrimidine dehydrogenase splicing mutations

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.

The invention relates to methods and compositions that are useful for detecting deficiencies in dihydropyrimidine dehydrogenase (DPD) levels in mammals including humans. Cancer patients having a DPD deficiency are at risk of a severe toxic reaction to the commonly used anticancer agent 5-fluorouracil (5-FU). Claimed are DPD genes from human and pig, methods for detecting the level of nucleic acids that encode DPD in a patient, and nucleic acids that are useful as probes for this purpose. Also claimed are methods for expressing DPD in heterologous organisms. Expression vectors that employ a DPD nucleic acid as a selectable marker are also claimed. This selectable marker functions in both prokaryotes and eukaryotes.

Growing community of inventors

Bethesda, MD, United States of America

Pedro Fernandez-Salguero