Genetics of Hyperparathyroidism- Jaw Tumors

这个项目是与NHGRI的John Carpten和Jeffrey Trent博士以及Maurine Hobbs，Raj Thakker，Bin Teh，Catharina Larrson，R。Marks和Silvano Presciuttini的研究旨在缩小1号染色体上的区域，其中甲状旁腺功能亢进伴颌骨肿瘤（HPT-JT）的基因座已被先前的几项连锁研究定位，并最终克隆和表征该基因。该基因已被本地化，并在我们的精细定位分析所示的区域内的特点。在本财政年度的《自然遗传学》杂志上发表了一份手稿，介绍了这种联系和克隆结果。未来，我们计划使用这些数据来检查有关我们的单倍型共享方法及其在定位疾病基因中的用途的问题。我们还计划进一步研究该基因座上各种突变的多态性，以及该基因座上易感等位基因与各种环境风险因素之间可能的基因-环境相互作用。

This project, in collaboration with Drs. John Carpten and Jeffrey Trent of NHGRI and with Drs. Maurine Hobbs, Raj Thakker, Bin Teh, Catharina Larrson, R. Marks and Silvano Presciuttini, aimed to narrow the region on chromosome 1 where a locus for hyperparathyroidism with jaw tumors (HPT-JT) had been mapped by several previous linkage studies, and to eventually clone and characterize this gene. The gene has been localized and characterized within the region indicated by our fine-mapping analyses. A manuscript was published in this fiscal year in Nature Genetics that presented the linkage, and cloning results. In the future, we plan to use these data to examine questions about our haplotype sharing method and its uses in localizing disease genes. We are also planning future studies of the penetrance of various mutations at this locus and of possible gene-environment interactions between susceptibility alleles at this locus and various environmental risk factors.