Alsamman Khaldoon, Zhang Xiuli, Vatte Chittibabu, Al Hamad Mohammad, El-Masry Omar S, Owaidah Amani Y, Alzahrani Faisal, Lin Yao
Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, University of Dammam, Dammam, Saudi Arabia. Email:
Asian Pac J Cancer Prev. 2017 Oct 26;18(10):2795-2801. doi: 10.22034/APJCP.2017.18.10.2795.
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 noncoding 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.
干扰素调节因子1（IRF-1）基因参与细胞分化和增殖的调控，使其成为癌症研究中的一个潜在靶点。IRF-1作为一种肿瘤抑制基因，在慢性粒细胞白血病（CML）和非慢性粒细胞白血病（非CML）中失活。鉴于关于IRF-1基因非编码区基因变化的众多报道，本研究旨在探讨沙特白血病患者随机样本中IRF-1编码区和非编码区可能的基因组变化，以便深入了解基因变化对临床病理特征的潜在影响。患者被分为两种主要的白血病亚型：CML（8例；36.4%）和非CML（14例；63.6%）。测序结果显示，IRF-1基因编码区有两个新的突变，可能影响IRF-1/DNA结合亲和力。此外，在第5外显子和第6外显子之间的非编码区鉴定出三个突变位点（8985(T>G)、8990(T>G)和8995(A>G)）。总之，一项更具代表性的研究可能有助于更好地理解IRF-1中已确定的基因变化对白血病患者疾病预后和结局的可能贡献。
