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Frequency and importance of jak2v617f mutation among Iranian patients with polycythemia vera, essential thrombocythemia and primary myelofibrosis
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Mojtaba Ghadiany   , Fazel Elahi , Abdol Ali Shahrasbi , Mohammad Ali Jhangirpour , Baharh Sadeghi , Gelareh Khosravipour , Behzad Poopak , Abolfazl Yousefian , Hamid Rezvani , Ramzanali Sharifian |
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Abstract: (28680 Views) |
Background: Detection of JAK2V617F mutation was widely used in the diagnosis and classification of myeloproliferative neoplasms. In this study, frequency of JAK2V617F mutation among Iranian patients with polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) was studied.
Materials and methods: In this basic study, blood samples of 174 patients with polycythemia vera (n= 57), essential thrombocythemia (n= 84) and primary myelofibrosis (n= 33) were evaluated for JAK2V617F mutation. Genomic DNA was extracted from peripheral blood. After quality control of extracted DNA, the JAK2–V617F mutation was analyzed using allele-specific PCR. All PCR products were analyzed by polyacrylamide gel (5%) electrophoresis and silver staining.
Results: One hundred and eleven out of 174 patients (63.8%) were positive for the presence of the JAK2V617F mutation. Frequency of mutation was 82% (47/57) in PV, 57% (48/84) in ET and 48% (16/33) in PMF.
Conclusion: This study showed that detection of JAK2-V617F mutation using allele-specific PCR lead to better diagnosis and treatment of Iranian patients with different MPNs. |
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| Keywords: Myeloproliferative neoplasms, JAK2-V617F mutation, Allele- specific PCR |
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Full-Text [PDF 667 kb]
(8194 Downloads)
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Subject:
Epidemiology
Received: 2010/08/19 | Published: 2010/04/15
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