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

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Intramural Research (Z01)
Project #
1Z01HG000154-01
Application #
6227991
Study Section
Special Emphasis Panel (IDRB)
Project Start
Project End
Budget Start
Budget End
Support Year
1
Fiscal Year
1999
Total Cost
Indirect Cost
Name
National Human Genome Research Institute
Department
Type
DUNS #
City
State
Country
United States
Zip Code
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