This project, in collaboration with Dr. Jeffrey Trent of NHGRI,and with Drs. Maurine Hobbs, Raj Thakker and Catharina Larrson,aims to narrow the region on chromosome 1 where a locus forhyperparathyroidism with jaw tumors (HPT-JT) has been mapped byseveral previous linkage studies, and to eventually clone andcharacterize this gene. To date, analyses have been performed ongenotype data for pedigrees from several sites and the linkage tothe region has been confirmed. Haplotypes have been built andcritical recombinants have been identified. At present,additional markers for fine mapping and association studies arebeing genotyped and further linkage and association analyses willbe performed. - hyperparathyroidism, jaw tumors, genetics, linkage - Human Subjects
| Carpten, J D; Robbins, C M; Villablanca, A et al. (2002) HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet 32:676-80 |
