Document Type : Research Articles
Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, University of Dammam, Dammam, Saudi Arabia.
College of Life Sciences, Fujian Normal University, China.
Department of Genetic Research, Institute for Research and Medical Consultations, University of Dammam, Dammam, Saudi Arabia.
Department of Pathology, King Fahd Hospital of the University, University of Dammam, Khobar, Saudi Arabia.
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.