Novel IRF-1 Mutations in a Small Cohort of Leukaemia Patients From Saudi Arabia
نویسندگان
چکیده
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.
منابع مشابه
Molecular characterization of retinitis pigmentosa in Saudi Arabia
PURPOSE To catalog mutations that underlie retinitis pigmentosa (RP) in Saudi Arabia using a representative sample. METHODS Fifty-two patients with RP were recruited and their homozygosity mapping, with or without linkage analysis, was used to suggest the causative genes followed by bidirectional sequencing. RESULTS Mutations were identified in 94% of our study cohort, including seven that ...
متن کاملTwenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease
Maple syrup urine disease (MSUD), an autosomal recessive inborn error of metabolism due to defects in the branched-chain α-ketoacid dehydrogenase (BCKD) complex, is commonly observed among other inherited metabolic disorders in the kingdom of Saudi Arabia. This report presents the results of mutation analysis of three of the four genes encoding the BCKD complex in 52 biochemically diagnosed MSU...
متن کاملTop Benefits and Hindrances to Cloud Computing Adoption in Saudi Arabia: A Brief Study
Cloud computing is an emerging concept of information technology that in many countries has an influence on many companies. The research was conducted to evaluate cloud computing adoption in Saudi Arabia; Benefits and hindrances for small and medium-sized enterprises (SMEs). The qualitative research approach is performed by interviews with the management of a variety of SMEs active in the infor...
متن کاملPatient Centered Model of Care: A Positive Impact on Treatment Outcome in a Rehabilitation Hospital in Saudi Arabia
Patient-centered model of care (PCMC) is a philosophy and mindset that requires a high level of commitment and significant adjustments in organizational structures. The patient-centered care (PCC) concept is based upon communication and involvement of both patients and their families in the treatment options and the potential outcome, thus empowering the patient and family. The PCC is a quality...
متن کاملLow expression of interferon regulatory factor-1 and identification of novel exons skipping in patients with chronic myeloid leukaemia.
Chronic myeloid leukaemia (CML) is a malignant clonal disorder of the haematopoietic stem cell. Treatment of CML patients with interferon alpha (IFN-alpha) has induced haematological and cytogenetic remission. Interferons transcriptionally activate target genes through the JAK-STAT and interferon regulated factors (IRFs) family pathways. Interferon regulated factor-1 (IRF-1) is a transcriptiona...
متن کامل