Quantitative determination of JAK2V617F mutation and its application in chronic myeloproliferative disorders / 国际检验医学杂志

ABSTRACT

Objective To quantitatively determine JAK2V617F mutation by fluorescence quantitative polymerase chain reaction (FQ-PCR)and to analyze its diagnostic value in chronic myeloproliferative disorders(CMPD).Methods FQ-PCR was adopted to detect the positive rate and the relative quantification of JAK2V617F gene mutation in the marrow samples of 68 patients with CMPD.Their diagnostic value in CMPD and their relation with the clinical data were analyzed.Results The marrow samples in 68 cases of CMPD were successfully amplified in wild-type and mutant JAK2V617F.The total positive rate of the JAK2V617F gene mutation was 66.2%(45/68).The positive rate was 75.0%(21/28)in the patients with polycythemia vera(PV),60.6%(20/33)in the patients with primary thrombocythemia(ET)and 57.1%(4/7)in patients with idiopathic myelofibrosis respectively.The posi-tive rate of JAK2V617F mutation in the PV patients was significantly higher than that in the patients with ET and IMF.The JAK2V617F relative quantification in the PV patients was positively correlated with the hemoglobin concentration and white blood cell(WBC)count,and which in the ET patients was positively correlated with the platelet count.Conclusion FQ-PCR can quickly and accurately detect JAK2V617F mutation and its mutation ratio,which provides an effective laboratory indicator for the clinical diagnosis of CMPD.Certain relation exists between the JAK2V617F relative quantification and the clinical hematological indexes of the patients.