Idiopathic myelofibrosis in patients with JAK2V617F mutation.docVIP

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Idiopathic myelofibrosis in patients with JAK2V617F mutation.doc

Idiopathic myelofibrosis in patients with JAK2V617F mutation

 PAGE \* MERGEFORMAT 6 Idiopathic myelofibrosis in patients with JAK2V617F mutation Author: Li Wei Da, LI Jian-yong, Zhang Sujiang, Hai-Rong Qiu, Xu Wei, Wang Shi [Abstract] In order to explore idiopathic myelofibrosis (IMF) JAK2V617F point mutation in the incidence and clinical significance, using allele-specific polymerase chain reaction (AS  PCR) detected 12 cases of IMF patients with JAK2V617F point mutation in and to explore the JAK2V617F changes and clinical and hematological features of relevance. The results showed that: follow-up period of 2-15 months, 12 patients were positive for JAK2V617F point mutation detection rate of 50%, while half of the history of suffering from thrombosis, the platelet count and bone marrow megakaryocyte number of relatively stronger. The other six cases of JAK2V617F point mutation-negative patients with thrombosis in 1 case there is a history of platelet count and bone marrow megakaryocyte number is relatively low. Conclusions: JAK2V617F point mutation-positive patients with the majority of IMF has the typical clinical manifestations and hematological characteristics, their platelet count and bone marrow megakaryocyte number of relatively stronger. [Keywords:] Idiopathic myelofibrosis; JAK2V617F point mutation; platelet; marrow megakaryocytes JAK2V617F Mutation in Patients with Idiopathic Myelofibrosis Abstract To investigate JAK2V617F mutation and its clinical significance in patients with idiopathic myelofibrosis (IMF), genomic DNA was extracted from peripheral blood cell samples of 12 IMF cases. Allele  specific PCR (AS  PCR) was performed to identify JAK2V617F mutation, and the results were confirmed by sequence analysis. A retrospective study was performed to explore the correlation between JAK2V617F mutation and the clinical, hematologic features. The results showed that in follow  up for 2 to 15 months, the occurrence of the possitive point mutation in 12 patients with IMF was 50%, and the half of thes

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