Tehran University Medical Journal (Jul 2010)
ARMS-PCR Versus AS-PCR to evaluate JAK2V617F mutation in patients with non-CML myeloproliferative neoplasms
Abstract
"n Normal 0 false false false EN-US X-NONE AR-SA MicrosoftInternetExplorer4 /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0cm 5.4pt 0cm 5.4pt; mso-para-margin:0cm; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:Arial; mso-bidi-theme-font:minor-bidi;} 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 (AS-PCR) to evaluate JAK2V617F mutation patients with non-CML myeloproliferative neoplasms (MPNS)."n"nMethods: 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."n"nResults: 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 ARMS-PCR 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."n"nConclusions: The incidence of JAK2 mutation using above PCR methods is similar to previous studies. The different results may depend on the molecular technique used.
