【摘要】 目的观察慢性骨髓增生性疾病(MPD)患者中JAK2V617F基因突变的发生率。方法 30例MPD患者骨髓及外周血抽取DNA,应用等位基因特异性PCR技术检测JAK2V617F基因突变。结果 30例MPD患者中JAK2V617F基因突变的阳性率为68.4%,其中真性红细胞增多症(PV)为79.2%(19/24),原发性血小板增多症(ET)为50.0%(3/6)。结论 JAK2V617F基因突变检测有助于BCR/ABL阴性的MPD的诊断,使MPD能够早期发现、早期诊断,预防或减少血栓形成及出血的发生。更多还原

【Abstract】 Objective To observe the myeloproliferation disease(MPD) found in patients with JAK2V617F incidence of genetic mutations.Methods Genomic DNA from bone marrow and peripheral blood cells were extracted from 30 patients with MPD technology testing JAK2V617F genetic mutations.Results The number of MPD 30 cases in patients with JAK2V617F mutation rate was 68.4%,among them the polycythemia vera(PV) positive rate was 79.1%(19/24),and essential thrombocythemia(ET) positive rate was 50%(3/6).Conclusion JAK2V617F gene mutations testing helps to BCR/ABL negative MPD diagnosis,makes the MPD early detection and treatment,and prevents and reduce blond clots or bleeding events.更多还原