(EN)
The invention relates to variant V617F of protein tyrosine kinase JAK2, said variant being responsible for Polycythemia vera. The invention also relates to a method for the preliminary diagnosis of erythrocytosis and thrombocytosis, thereby enabling same to be related to myeloproliferative syndromes or the detection of variant JAK2 V617F in said myeloproliferative syndromes, such that they can be reclassified in a new nosological group, and to the identification of specific inhibitors and siRNA.
(ZH)
本发明涉及蛋白质酪氨酸激酶JAK2的变体V617F,所述变体是造成真性红细胞增多症的原因。本发明还涉及用于初步诊断红细胞增多症和血小板增多症的方法,由此也同样涉及骨髓增生性综合征或者对所述骨髓增生性综合征中的变体JAK2 V617F的检测,从而能够将他们在新的疾病分类学组中重新分类,并且本发明涉及对特异性抑制剂和siRNA的鉴定。