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:: Volume 14, Issue 2 (Summer 2017) ::
Sci J Iran Blood Transfus Organ 2017, 14(2): 101-108 Back to browse issues page
Evaluation of prevalence of JAK 2 exon 12 gene mutations among Iranian patients with Polycythemia Vera
Zahra Torab , Behzad Poopak Dr. , Ali Akbar Movassagh Pour , M.R. Younesi , A.H. Emami , Fazel Elahi
Abstract:   (582 Views)

Abstract

Background and Objectives

Polycythemia Vera (PV) is one of the negative BCR-ABL1 myeloproliferative neoplasms arising from hematopoietic progenitors. About 3-4% of PV patients have some mutations in the exon 12 of JAK2 gene. Considering the importance of these mutations in diagnosis of patients with PV, the present study was conducted.

Materials and Methods

In this descriptive analytical study, JAK2 exon 12 mutations were evaluated in 58 patients with diagnosis of PV in Payvand Laboratory and all of them were negative for V617F mutation. In addition, we had 60 detailed patient files who had V617F mutation. After quality control of extracted genomic DNA, the exon 12 were amplified by PCR. The screening for mutations was performed by direct DNA sequencing. The data were analyzed by SPSS 13 & c2 test.

Results

In this study 58 V617F-negative PV patients were studied. 45 (77.6%) cases were male and 13 (22.4%) were female. The mean age of patients was 46.8 ± 4.2. After needed analysis Mutation (E543-D544del) was seen in a 72 years old woman .

Conclusions 

There is low frequency of exon 12 mutation in Iranian population which can be as a result of low number of patients or low frequency in Iranian population. So study on larger population should be informative. 

Keywords: Key words: Polycythemia Vera, Neoplasms, Exons
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Type of Study: Research | Subject: Hematology
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Torab Z, Poopak B, Movassagh Pour A A, Younesi M, Emami A, Elahi F. Evaluation of prevalence of JAK 2 exon 12 gene mutations among Iranian patients with Polycythemia Vera . Sci J Iran Blood Transfus Organ. 2017; 14 (2) :101-108
URL: http://bloodjournal.ir/article-1-1091-en.html
Volume 14, Issue 2 (Summer 2017) Back to browse issues page
فصلنامه پژوهشی خون Scientific Journal of Iran Blood Transfus Organ
The Scientific Journal of Iranian Blood Transfusion Organization - Copyright 2006 by IBTO
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