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目的建立实时定量 PCR 检测骨髓增殖性疾病(MPD)患者 JAK2V617F 突变的方法。方法利用 TaqMan-MGB 探针,检测 MPD 患者 JAK2V617F 突变,部分标本用等位基因特异的定性PCR 及测序的方法同时进行验证。结果 374份患者和对照的骨髓或外周血标本被用于 JAK2V617F 突变分析。其中76例 PV、115例 ET 和19例 MF 患者 JAK2V617F 突变的检出率分别为70%、51%及58%;65例急性髓性白血病中仅1例为阳性,而38例慢性髓性白血病、30例急性淋巴细胞白血病、8例慢性淋巴细胞白血病、7例非霍奇金淋巴瘤及16例正常供者骨髓细胞中的检出率均为0。结论 JAK2V617F 突变在我国 MPD 患者中是广泛存在的。利用 TaqMan-MGB 探针进行实时定量PCR 的方法可快速、准确地检测 JAK2V617F 突变。
Objective To establish a real-time quantitative PCR for detection of JAK2V617F mutation in patients with myeloproliferative disorders (MPD). Methods TaqMan-MGB probe was used to detect JAK2V617F mutation in MPD patients. Some of the samples were verified by allele-specific qualitative PCR and sequencing. Results 374 patients and control bone marrow or peripheral blood samples were used for the JAK2V617F mutation analysis. Among them, 76 cases of PV, 115 cases of ET and 19 cases of MF patients JAK2V617F mutation detection rates were 70%, 51% and 58%; 65 cases of acute myeloid leukemia in only 1 case was positive, and 38 cases of chronic myeloid leukemia , 30 cases of acute lymphoblastic leukemia, 8 cases of chronic lymphocytic leukemia, 7 cases of non-Hodgkin’s lymphoma and 16 cases of normal donor bone marrow cells in the detection rate was Conclusion The JAK2V617F mutation is widespread in MPD patients in China. Real-time quantitative PCR using the TaqMan-MGB probe allows rapid and accurate detection of the JAK2V617F mutation.