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目的检测骨髓增殖性疾病(MPDs)中JAK2 V617F点突变与锌指蛋白转录因子(KLF4 mRNA)表达,探讨JAK2 V617F点突变与KLF4 mRNA表达水平与BCR/ABL阴性的MPDs的关系。方法用等位基因特异性聚合酶链反应(AS-PCR)技术检测4组JAK2 V617F点突变,根据结果分为阴性、阳性。反转录特异性聚合酶链反应(RT-PCR)技术检测4组KLF4 mRNA的表达水平。结果BCR/ABL阴性的MPDs的62例患者中JAK2 V617F基因突变慢性特发性骨髓纤维化(IMF)中有5例,阳性率55.56%(5/9),原发性血小板增多症(ET)中有15例,阳性率57.69%(15/26),真性红细胞增多症(PV)中有23例,阳性率88.46%(23/26),慢性嗜中性白血病1例。慢性粒细胞性白血病(CML)、急性白血病(AL)、对照组均没有阳性病例。KLF4mRNA在每例样本中均有表达。KLF4 mRNA表达水平在PV组显著高于其他3组(P<0.05)。结论BCR/ABL融合基因阴性的MPDs患者存在高频率JAK2 V617F点突变,KLF4 mRNA在PV患者中高表达。JAK2 V617F突变导致了KLF4基因表达的增高。JAK2 V617F突变阳性的ET患者,易出现并发症。AS-PCR是一种简单、有效检测JAK2 V617F突变方法。
Objective To detect the JAK2 V617F point mutation and the expression of KLF4 mRNA in myeloproliferative diseases (MPDs) and to explore the relationship between JAK2 V617F point mutation and the expression of KLF4 mRNA and BCR / ABL negative MPDs. Methods Four alleles of JAK2 V617F mutation were detected by allele specific polymerase chain reaction (AS-PCR). According to the results, they were divided into negative and positive. Reverse transcription-specific polymerase chain reaction (RT-PCR) was used to detect the expression of KLF4 mRNA in four groups. Results Among the 62 patients with BCR / ABL-negative MPDs, 5 were found in the JAK2 V617F gene mutation in chronic idiopathic myelofibrosis (IMF), with a positive rate of 55.56% (5/9), essential thrombocythemia (ET) In 15 cases, the positive rate was 57.69% (15/26), 23 cases of polycythemia vera (PV), the positive rate was 88.46% (23/26), and 1 case of chronic neutrophilic leukemia. There were no positive cases of chronic myeloid leukemia (CML), acute leukemia (AL) and control group. KLF4 mRNA is expressed in every sample. The expression of KLF4 mRNA in PV group was significantly higher than the other three groups (P <0.05). Conclusion High frequency JAK2 V617F point mutation exists in MPDs with negative BCR / ABL fusion gene. KLF4 mRNA is highly expressed in PV patients. JAK2 V617F mutation leads to increased KLF4 gene expression. JAK2 V617F mutation-positive ET patients, prone to complications. AS-PCR is a simple and effective method to detect JAK2 V617F mutation.