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JAK2基因属于 JAKs(Janus kinases)家族,是一种胞内酪氨酸蛋白激酶。多种细胞因子如白细胞介素3(IL-3)、红细胞生成素(EPO)等通过 JAks-STAT 途径进行胞内信号的转导,最终促进或调节细胞的增殖。自去年3月份起国际上多个研究小组相继报道 BCR/ABL 阴性的骨髓增殖性疾病(MPD)患者存在 JAK2基因12号外显子的一种高频点突变——JAK2V617F,即第617密码子(GTC)第1位碱基发生G→T的颠换,导致其编码的缬氨酸变为苯丙氨酸。目前国外报道 JAK2V617F 在真性红细胞增多症(PV)中发生率为65%～97%,原发性血小板增多症(ET)为23%～57%,慢性特发性骨髓纤维化(MMM)为35%～50%,而其他血液系统
The JAK2 gene belongs to the Janus kinases (JAKs) family and is an intracellular tyrosine protein kinase. A variety of cytokines, such as interleukin 3 (IL-3), erythropoietin (EPO) and the like, transduce intracellular signals via the JAks-STAT pathway and ultimately promote or regulate cell proliferation. Since March last year, many international research groups have reported that one of the high-frequency point mutations of JAK2 gene exon 12 - JAK2V617F, which is the 617 codon (BamHI) gene in patients with BCR / ABL negative myeloproliferative disorder (MPD) GTC) base 1 → G → T transversion, resulting in its encoded valine to phenylalanine. At present, foreign reports JAK2V617F in polycythemia vera (PV) incidence of 65% to 97%, essential thrombocythemia (ET) was 23% to 57%, chronic idiopathic myelofibrosis (MMM) of 35 % ~ 50%, while other blood system