Genetics of Hyperparathyroidism- Jaw Tumors

甲状旁腺功能亢进症的遗传学 - 颌骨肿瘤

• 批准号: 6830377
• 负责人: Joan Ellen Bailey-Wilson
• 金额: --
• 依托单位: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/6830377
• 关键词: clinical research; cooperative study; gene expression; genetic markers; genetic susceptibility; genotype; human subject; hyperparathyroidism; jaw; linkage mapping; molecular cloning; molecular genetics; neoplasm /cancer genetics; oncogenes; oral pharyngeal neoplasm

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.

该项目与Drs合作。 NHGRI的John Carpten和Jeffrey Trent和Drs。 Maurine Hobbs，Raj Thakker，Bin Teh，Catharina Larrson，R。Marks和Silvano Presciuttini的目的是在1号染色体上缩小该地区的范围，在该区域中，与以前的几个连锁研究一起绘制了与Jaw肿瘤（HPT-JT）的高甲状腺功能亢进症的基因座，并最终由Clone和Thre Gene进行表征。该基因已定位并表征在我们的精细图分析所指示的区域内。在本财政年度发表了一份手稿，该财政年度在自然遗传学上呈现了联系，并将克隆结果发表。将来，我们计划使用这些数据来研究有关我们的单倍型共享方法及其在本地化疾病基因中的用途。我们还计划在该基因座的各种突变以及该基因座的易感性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的未来研究。