Isfahan University of Medical Sciences

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Arms-Pcr Versus As-Pcr to Evaluate Jak2v617f Mutation in Patients With Non-Cml Myeloproliferative Neoplasms



Nadali F1 ; Ferdowsi S2 ; Karimzadeh P3 ; Chahardouli B3 ; Einollahi N3 ; Mousavi A3 ; Bahar B3 ; Dargahi H4 ; Toogeh GR5 ; Alimoghaddam K3 ; Ghavamzadeh A3 ; Ghaffari SH3
Authors
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Authors Affiliations
  1. 1. Department of Pathology Department, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
  2. 2. Department of Hematology, Molecular Genetics, Cancer Research Center, Cancer Institute, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. Department of Hematology-Oncology and BMT Research Center, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. School of Allied Health Sciences, Tehran University of Medical Sciences, Tehran, Iran
  5. 5. Department of Hematology-Oncology and BMT Research Center, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran

Source: Tehran University Medical Journal Published:2010

Abstract

Background: JAK2 is a nonreceptor tyrosine kinase that plays a major role in myeloid disorders. This mutation is characterized by a G to T transverse at nucleotide 1849 in exon 12 of the JAK2 gene, located on the chromosome 9p, leading to a substitution of valine to phenylalanine at amino acid position 617 in the JAK2 protein. In this study we compared the amplification refractory mutation (ARMS) assay and allele- specific (ASPCR) to evaluate JAK2V617F mutation patients with non-CML myeloproliferative neoplasms (MPNS). Methods: In this experimental study we evaluated JAK2 mutation in 58 patients with a known or suspected diagnosis of a myeloproliferative neoplasm by simple randomized sampling. The mutation was detected by ARMS-PCR and AS-PCR in patients. In order to verify the methods, amplified products from some patients were sequenced. Results: The JAK2 V617F mutation was detected in 86.6%(26/30) of patients with polycythemia vera and 61.5%(8/13) of patients with idiopathic myelofibrosis by ARMSPCR and AS-PCR. 46.6%(7.15) of essential thrombocythemia patients were positive using ARMS- PCR method while 53%(8.15) of then were positive when AS- PCR were used. The mutation was confirmed by sequencing. Conclusions: The incidence of JAK2 mutation using above PCR methods is similar to previous studies. The different results may depend on the molecular technique used.
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