| 金茜1 杜博1 李晶波2 张淑云1 房绍红1△.JAK2V617F 点突变与骨髓增殖性疾病的临床相关性研究[J].现代生物医学进展英文版,2012,12(12):2250-2253. |
| JAK2V617F 点突变与骨髓增殖性疾病的临床相关性研究 |
| Correlations of JAK2V617F Mutation with Clinical and Laboratory Findingsin Myeloproliferative Disease |
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| DOI： |
| 中文关键词: 骨髓增殖性疾病 JAK2V617F 点突变 AS-PCR |
| 英文关键词: Myeloproliferative disorders JAK2V617F mutation AS-PCR |
| 基金项目:黑龙江省教育厅课题（12511301） |
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| 中文摘要: |
| 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。 |
| 英文摘要: |
| Objective: To investigate the frequency of JAK2V617F mutation and analyze its correlation with myeloproliferative
disease, in order to provide theoretical basis for gene diagnosis and targeted therapy. Methods: The JAK2V617F mutation was detected
by allele specific polymerase chain reaction (AS-PCR). Result: In 102 Patients with MPD,the positive rates of JAK2V617F mutation in
patients with 9 patients of chronic myeloid leukemia, 21 patients of polycythemia vera,37 patients of essential thrombocythemia and 16
patients of idiopathic myelofibrosis are 11%,71.4%,51.4% 75% and 78.9% respectively. Conclusions: JAK2V617F mutation plays an important
role in the pathogenesis of MPD. The detection of JAK2V617F mutation is helpful for the diagnosis of different types of myeloproliferative
disorders such as polycythemia vera, essential thrombocythemia, idiopathic myelofibrosis and uMPD etc. |
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