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NHGRI的John Carpten博士和Jeffrey Trent博士以及Maurine Hobbs博士、Raj Thakker博士、Bin Teh博士、凯瑟琳娜·拉尔森博士、R.Marks博士和Silvano Presciuttini博士合作，旨在缩小先前几项连锁研究绘制的1号染色体上甲状旁腺机能亢进症与颌骨肿瘤(HPT-JT)的区域，并最终克隆和表征该基因。该基因已在我们的精细定位分析所指示的区域内定位和特征。在本财年的《自然遗传学》上发表了一篇手稿，介绍了这种联系和克隆结果。在未来，我们计划使用这些数据来检查关于我们的单倍型共享方法以及它在定位疾病基因方面的用途的问题。我们还计划未来研究该基因座各种突变的外显性，以及该基因座的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。