Comparisions of ARMS-PCR and AS-PCR for the Evaluation of JAK2V617F Mutation in Patients with non-CML Myeloproliferative Neoplasms

Abstract

Background and objectives: JAK2 is a nonreceptor tyrosine kinase that plays a major role in myeloid disorders. JAK2V617F 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 two molecular methods namely ARMS-PCR and AS-PCR for the evaluation of JAK2V617F mutation in patients with myeloproliferative neoplasms. Material and methods: In this study we evaluated JAK2 mutation in 89 patients with Myeloproliferativeneoplasm (MPNs) by simple randomized sampling. The mutation was detected by ARMS-PCR and AS-PCR in patients.Three DNA samples were sequenced for conformation of the above techniques. 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. None of 31 CML patients were detected by ARMS-PCR and AS-PCR. In essential thrombocythemia using ARMS-PCR and AS-PCR 46.6% (7/15) and 53% (8/15) of patients were positive, respectively. The mutation was confirmed by sequencing. Conclusions: The results of the study showed that similarity with other studies by two techniques and detection of the JAK2V617F mutation may depend on the molecular technique used. Also, JAK2 mutation detection is an appropriate tool for differential diagnosis of non-CML myeloproliferative neoplasms from benign condition like reactive erytrocytosis and thrombocytosis.

Keywords

• JAK2V617F mutation
• myeloproliferative neoplasms
• ARMS-PCR
• Allele-specific PCR