COMPOSITIONS, METHODS AND KITS RELATING TO URIDINE PHOSPHORYLASE GENE MUTATIONS

摘要

The present invention relates to human uridine phosphorylase nucleic acids and proteins encoded thereby. More specifically, the invention discloses that uridine phosphorylase in certain tumor tissues is resistant to inhibition by uridine phosphorylase inhibitor (UPI). The invention further relates to identification of mutations associated with uridine phosphorylase resistance to UPIs. These mutations include mutations located in exon 1 and exon 6. More specifically, the mutations include, but are not limited to, a change from a C to T at nucleotide 40, a C to T at nucleotide 135, a C to G at nucleotide 178, an A to C at nucleotide 182, a C to T at nucleotide 186, a G to A at nucleotide 713, and a G to A at nucleotide 752. The invention also relates to methods and kits relating to the nucleic and amino encoding UPase resistant to UPIs and uses therefor.