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真性红细胞增多症(PV)、特发性骨髓纤维化(IMF)、原发性血小板增多症(ET)和慢性粒细胞性白血病(CML)是一组临床与骨髓组织学特征相似的疾病,即骨髓增殖性疾病(MPD);但除了CML外,PV、IMF和ET等MPD的发病机制至今尚不十分明了。最近有研究发现染色体9p获得性杂合性丧失(LOH)与JAK2基因突变有密切关系,JAK2基因突变体(JAK2-V617F)在PV、ET和IMF中发生率分别高达65%～97%、23%～57%和35%～57%;并与对细胞因子的高敏感性、PRV1的高表达和内源性红系集落(EEC)的形成等也有密切的联系等等。因此,作为胞浆非受体性酪氨酸激酶是发生于造血干细胞水平克隆性异常的标志,JAK2在多种造血生长因子受体信号转导中发挥关键作用,因而可作为MPD的候选基因。
Polycythemia vera (PV), idiopathic myelofibrosis (IMF), essential thrombocythemia (ET) and chronic myeloid leukemia (CML) are a group of diseases that are clinically and metabonomically similar in nature Myeloproliferative disease (MPD); but with the exception of CML, PV, IMF and ET MPD pathogenesis is still not yet clear. Recent studies have found that chromosome 9p acquired loss of heterozygosity (LOH) and JAK2 gene mutations are closely related to the JAK2 gene mutant (JAK2-V617F) PV, ET and IMF were as high as 65% to 97%, 23 % ~ 57% and 35% ~ 57%. It is also closely related to the high sensitivity to cytokines, the high expression of PRV1 and the formation of endogenous erythroid colonies (EECs). Thus, as a cytosolic non-receptor tyrosine kinase, a marker of clonal abnormalities at the hematopoietic stem cell level, JAK2 plays a key role in a variety of hematopoietic growth factor receptor signaling and therefore serves as a candidate gene for MPD.