In collaboration with Dr. Maurine Hobbs of the University of Utah, we are attempting to identify the gene responsible for hyperparathyroidism-jaw tumor (HPT-JT) syndrome using genetic and molecular techniques. We have genotyped a large set of families whose collection was coordinated by Dr. Hobbs, with a large number of genetic markers through the previously identified HPT-JT genetic interval at 1q24-q31. We have successfully refined the genetic interval from roughly 30 centiMorgans to approximately 7 centiMorgans. We are currently mapping and characterizing genes, which we have mapped to the HPT-JT critical interval. We are also using bioinformatics and databasing as we are utilizing large amounts of draft human geneome sequence from the human genome project to identify novel genes using gene prediction algorithms. We will begin mutational analysis of a number of positively mapped genes on a set of HPT-JT patient DNA samples in hope of identifying mutations in a gene which can be associated with HPT-JT.
