Novel IRF-1 Mutations in a Small Cohort of Leukaemia Patients From Saudi Arabia

Document Type : Research Articles


1 Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, University of Dammam, Dammam, Saudi Arabia.

2 College of Life Sciences, Fujian Normal University, China.

3 Department of Genetic Research, Institute for Research and Medical Consultations, University of Dammam, Dammam, Saudi Arabia.

4 Department of Pathology, King Fahd Hospital of the University, University of Dammam, Khobar, Saudi Arabia.

5 Department of Applied Medical Chemistry, Medical Research Institute, University of Alexandria, Egypt.


Involvement of the Interferon Regulatory Factor 1 (IRF-1) gene in regulation of cell differentiation and proliferation made it a potential target in cancer research. IRF-1 acts as a tumor suppressor gene, and is inactivated in chronic (CML) and non-chronic myelogenous leukemia (non-CML). In the light of numerous reports on genetic changes in the noncoding region of the IRF-1 gene, this study aimed to explore possible genomic changes in coding and non-coding regions of IRF-1 in a random sample of leukemic Saudi patients, in order to obtain insights into potential impact of genetic changes on clinicopathological characteristics. Patients were classified into two major leukemia subtypes: CML (8 cases; 36.4%) and non-CML (14 cases; 63.6%). Sequencing results revealed two novel mutations in the coding area of the IRF-1 gene likely to influence the IRF-1/DNA binding affinity. In addition, three mutational sites in the non-coding region between exon 5&6 (8985(T>G), 8,990(T>G) and 8995(A>G) were identified. In conclusion, a larger representative study might help provide better understanding of the possible contribution of the identified genetic changes in IRF-1 to disease prognosis and outcomes in leukemic patients.


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