Molecular Genetics of Polycythemia Vera

我们建议使用一些遗传学方法来确定涉及真性红细胞增多症的关键突变。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。我们还旨在剖析一个重要的血细胞表面受体的作用，以及它与JAK2突变的合作，最近显示出在这种疾病中的重要性。这些方法将导致更好地了解疾病和潜在的新的诊断和药物策略。

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.