Abstract
Objective To establish a simple and sensitive method to detect MPL515 mutations in peripheral blood of ET and PMF patients, and investigate the frequencies of the MPL515 and JAK2V617F mutations in Chinese patients. Methods Totally 261 patients of ET and 25 PMF cases were collected from Huashan Hospital of Fudan University and DNA samples were isolated from peripheral blood of these cases.SYBR Green Ⅰ real-time PCR was used to detect JAK2V617F mutation.Taqman probe was designed to be specific for the three types of mutations (MPL515wt, MPLW515L and MPLW515K).Real-time PCR was used to detect MPL515 mutations.The results were confirmed by sequencing after T-A cloning. Results Among 261 ET patients, 119 cases (45.6%) were identified as JAK2V617F mutation carriers and 7 cases (2.7%) were detected to be MPL515 mutation carriers, including 5 cases with MPLW515L, 1 case with MPLW515K and 1 case with MPLW515L+K.Additionally 10 cases with JAK2V617F（40.0%） and 3 cases with MPL515 （12.0%） were screened out in 25 PMF patients, including 1 case with MPLW515L and 2 cases with MPLW515L+K.One ET patient was found to harbor concurrent JAK2V617F and MPL515 mutations. Conclusion JAK2V617F mutation is the major molecular marker of ET and PMF, meanwhile MPL515 mutation is important and useful complement.(Chin J Lab Med,2012,35:634-638) Key words: Thrombocytosis; Myelofibrosis; Receptors，thrombopoietin; Janus kinase 2; Mutation; Polymerase chain reaction
Published Version
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