Molecular Genetics of Polycythemia Vera

真性红细胞增多症的分子遗传学

• 批准号: nhmrc : 508023
• 负责人: A/Pr Peter Bardy
• 金额: $ 42.56万
• 依托单位: The University of Adelaide
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2008
• 资助国家: 澳大利亚
• 起止时间: 2008-01-01 至 2011-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/molecular-genetics-polycythemia-vera/96552
• 关键词: Molecular; Genetics; Polycythemia; Vera

We propose to use a number of genetic approaches to identify key mutations involved in Polycythemia vera. We will analyse patient material, use cell lines and mouse models to investigate any new mutations. We also aim to dissect the role of an important blood cell surface receptor and its cooperation with the mutation in JAK2 recently shown to be important in this disease. These approaches will lead to better understanding of the disease and potential new diagnostic and drug strategies.

我们建议使用多种遗传学方法来识别真性红细胞增多症涉及的关键突变。我们将分析患者材料，使用细胞系和小鼠模型来研究任何新的突变。我们还旨在剖析一种重要的血细胞表面受体的作用及其与最近被证明在这种疾病中很重要的 JAK2 突变的配合。这些方法将有助于更好地了解该疾病以及潜在的新诊断和药物策略。