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Study of ASXL1 gene mutation in Chronic Myelogenous Leukemia
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A. Valikhani   , M.S. Rezaei , M. Alaei , B. Popak , N. Amirizade , M.H. Ahmadi |
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| Keywords: Key words: ASXL1 protein, human, Mutation, Leukemia |
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Type of Study: Research |
Subject:
Hematology
Published: 2016/12/25
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Full-Text: (3045 Views) |
References:
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Sci J Iran Blood Transfus Organ 2017; 13(4): 324-332
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Study of ASXL1 gene mutation in Chronic
Myelogenous Leukemia
Valikhani A.1, Rezaei M.S.2, Alaei M.1, Poopak B.3, Amirizade N.1, Ahmadi M.H.1
1Blood Transfusion Research Center, High Institute for research and Education in Transfusion Medicine, Tehran, Iran
2Virology Research Center, National Research Institute of Tuberculosis and Ling Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran
3Department of Hematology, Islamic Azad University, Tehran, Iran
Abstract
Background and Objectives
ASXL1 gene has been recently considered as an important mutant gene in myeloid leukemias including Chronic Myelogenous Leukemia(CML). Mutation in this gene is associated with disease aggressiveness and poor clinical outcome, so its evaluation would guide us to remarkable conclusions in estimating disease prognosis. Considering that there are only a few known prognostic factors for CML and that the study of this gene has never been accomplished in Iranian population, we decided to study this mutation in our CML patients.
Materials and Methods
In this experimental study 66 diagnosed CML patients were evaluated for the presence of ASXL1 mutation. For this reason a portion of exon 12 from ASXL1 gene(site that most mutations take place at), was amplified. This area was further studied by nucleotide sequencing.
Results
Mutations in ASXL1 were detected in 4 CML patients(2 men and 2 women) with mean age of 44 years and SD of 17.85(6%) . Mutations were of two different types including frame shift mutation(c.1394DupG) and deletion(1900-1922del) and both were reported in previous studies. No significant difference was detected in patients with and without mutations, according to sex, age, WBC count, Platelet count and Hemoglobin levels.
Conclusions
ASXL1 gene mutation is considered as a genetic abnormality in CML. According to the presence of this mutation in our patients at the time of diagnosis, it could be regarded as one of the primary genetic distortions in CML.
Key words: ASXL1 protein, human, Mutation , Leukemia
Received: 27 Jul 2015
Accepted: 14 Aug 2016
Correspondence: Alaei M., MD. Pathologist. Assistant Professor of Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine.
P.O.Box: 14665-1157, Tehran, Iran. Tel: (+9821) 82052105; Fax: (+9821) 88601599
E-mail: alaeimastaneh@hotmail.com
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Valikhani A, Rezaei M, Alaei M, Popak B, Amirizade N, Ahmadi M. Study of ASXL1 gene mutation in Chronic Myelogenous Leukemia. Sci J Iran Blood Transfus Organ 2016; 13 (4) :324-332 URL: http://bloodjournal.ir/article-1-977-en.html
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