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目的:研究JAK2V617F点突变与骨髓增殖性疾病(myeloproliferative disease,MPD)的临床相关性,为MPD的基因学诊断及靶向治疗提供理论依据。方法:应用等位基因特异性聚合酶链反应(AS-PCR)检测JAK2V617F点突变。结果:102例的MPD患者中包括慢性粒细胞白血病(CML)患者9例、真性红细胞增多症(PV)患者21例、原发性血小板增多症(ET)患者37例、特发性骨髓纤维化(IMF)患者16例和分类不明的骨髓增殖性疾病(uMPD)患者19例,JAK2V617F突变阳性率依次为11%、71.4%、51.4%、75.0%、78.9%。结论:JAK2V617F点突变有助于不同类型MPD的诊断,在MPD疾病的诊断中起重要作用。
Objective: To study the clinical correlation between JAK2V617F point mutation and myeloproliferative disease (MPD), and to provide a theoretical basis for gene diagnosis and targeted therapy of MPD. Methods: JAK2V617F point mutation was detected by allele-specific polymerase chain reaction (AS-PCR). Results: Of 102 MPD patients, 9 were patients with chronic myeloid leukemia (CML), 21 with polycythemia vera (PV), 37 with essential thrombocythemia (ET), idiopathic myelofibrosis (IMF) and 19 patients with undifferentiated myeloproliferative disorder (uMPD). The positive rates of JAK2V617F mutation were 11.4%, 51.4%, 75.0% and 78.9%, respectively. Conclusion: The point mutation of JAK2V617F contributes to the diagnosis of different types of MPD and plays an important role in the diagnosis of MPD.