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原发性血小板增多症(essential thrombocythemia,ET)是骨髓增殖性疾病(MPD)的一种,是多能干细胞慢性克隆增生性疾病,主要临床表现为外周血血小板计数持续显著升高。近来国外学者发现ET患者普遍存在JAK2(Janus kinese2)基因12号外显子第1849位核苷酸G—T突变[1-6],使得负调控功能区JAK2蛋白的617位缬氨酸错义编码为苯丙氨酸。
Essential thrombocythemia (essential thrombocythemia, ET) is a kind of myeloproliferative disease (MPD), is a chronic clonal proliferation of pluripotent stem cells disease, the main clinical manifestations of peripheral blood platelet count continued to significantly increased. Recently, foreign scholars found that there is a ubiquitous G-T mutation in nucleotides 1849 of exon 12 of Janus kinese2 gene in ET patients [1-6], resulting in the valine missense coding of 617 of JAK2 protein in negative regulatory function Phenylalanine.