Pathology-Cytology, Karolinska University Hospital, Stockholm, Sweden.
Int J Lab Hematol. 2010 Feb;32(1 Pt 2):122-6. doi: 10.1111/j.1751-553X.2008.01118.x. Epub 2008 Nov 8.
Clinical diagnosis of the myeloproliferative disorders (MPD) has previously been based on clinical data and bone marrow morphology due to lack of specific molecular markers. The discovery of JAK2 V617F mutation has shed light on understanding of the molecular pathways involved in the pathogenesis of the myeloproliferative disorders. The thrombopoietin receptor gene (MPL) is expressed in megakaryocytes and exhibits the gain of function point mutation in approximately 5% of MPDs. Several research groups have used real-time PCR to detect and quantify the presence of JAK2 V617F mutation. We report here a highly specific real-time assay based on the TaqMan((R)) technology to detect the MPL W515L mutation with high sensitivity from the patient's blood. This assay can be easily performed together with the JAK2 V617F mutation assay on the same real-time PCR reaction plate.
先前，由于缺乏特异性的分子标志物，骨髓增生性疾病（MPD）的临床诊断只能基于临床数据和骨髓形态学。JAK2 V617F 突变的发现，使人们对 MPD 发病机制涉及的分子途径有了更深入的了解。血小板生成素受体基因（MPL）在巨核细胞中表达，大约 5%的 MPD 中存在功能获得性点突变。一些研究小组已使用实时 PCR 检测和定量 JAK2 V617F 突变。我们在此报告一种基于 TaqMan（R）技术的高特异性实时检测方法，该方法可从患者血液中高灵敏度地检测 MPL W515L 突变。该检测方法可与 JAK2 V617F 突变检测一起，在同一实时 PCR 反应板上轻松完成。
