CAJ | 학술논문

目的：探讨荧光定量 PCR 的方法检测 JAK2V617F 基因突变并分析其在慢性骨髓增殖性疾病（CMPD）中的诊断价值。方法采用荧光定量聚合酶链反应（PCR）检测68例确诊 CMPD 患者骨髓标本中 JAK2V617F 基因突变的阳性率和相对定量，分析其在 CMPD 中的诊断价值以及和临床资料之间的联系。结果68例确诊患者的骨髓标本均成功扩增 JAK2V617F 野生型和突变型。JAK2V617F 基因突变的总阳性率为66．2％（45/68），其中真性红细胞增多症（PV）患者阳性率75．0％（21/28），原发性血小板增多症（ET）阳性率60．6％（20/33），特发性骨髓纤维化（IMF）阳性率57．1％（4/7）。PV 患者 JAK2V617F 突变阳性率明显高于 ET 和 IMF 患者。PV 患者 JAK2V617F 的相对定量和血红蛋白数和白细胞数呈正相关。ET 患者中 JAK2V617F 的相对定量和患者的血小板计数呈正相关。结论荧光定量 PCR 的方法能够快速准确的检测 JAK2V617F 基因突变及其突变比例，为临床诊断 CMPD 提供有效的实验室指标，JAK2V617F 的相对定量和患者的临床血液学指标存在一定关系。
목적：탐토형광정량 PCR 적방법검측 JAK2V617F 기인돌변병분석기재만성골수증식성질병（CMPD）중적진단개치。방법채용형광정량취합매련반응（PCR）검측68례학진 CMPD 환자골수표본중 JAK2V617F 기인돌변적양성솔화상대정량，분석기재 CMPD 중적진단개치이급화림상자료지간적련계。결과68례학진환자적골수표본균성공확증 JAK2V617F 야생형화돌변형。JAK2V617F 기인돌변적총양성솔위66．2％（45/68），기중진성홍세포증다증（PV）환자양성솔75．0％（21/28），원발성혈소판증다증（ET）양성솔60．6％（20/33），특발성골수섬유화（IMF）양성솔57．1％（4/7）。PV 환자 JAK2V617F 돌변양성솔명현고우 ET 화 IMF 환자。PV 환자 JAK2V617F 적상대정량화혈홍단백수화백세포수정정상관。ET 환자중 JAK2V617F 적상대정량화환자적혈소판계수정정상관。결론형광정량 PCR 적방법능구쾌속준학적검측 JAK2V617F 기인돌변급기돌변비례，위림상진단 CMPD 제공유효적실험실지표，JAK2V617F 적상대정량화환자적림상혈액학지표존재일정관계。
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.