مجلة المختبرات الطبية - 2016 - 1 - 1
Permanent URI for this collectionhttps://repository.neelain.edu.sd/handle/123456789/3113
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Item Angiotensin Converting Enzyme I/D Polymorphism and Risk of Acute Myeloid Leukemia among Sudanese Population(Al Neelain University-Faculty of Medical Laboratory Sciences, 2016-02) Rania Ahmed Elmubarak; Ebtihal Ahmed Babiker; Elshazali Widaa AliBackground: Local bone marrow Rennin- Angiotensin System (RAS) has been suggested to be involved in pathological neoplastic hematopoiesis and leukogenesis, and angiotensin has been suggested to act as an autocrine growth factor for acute myeloid leukaemia (AML) cells. Objective: This study aimed to investigate the association of angiotensin converting enzyme insertion/deletion (I/D) polymorphism with risk of AML. Materials and methods: A total of 30 patients with AML and 40 healthy volunteers were enrolled in this study. Blood samples were collected from all subjects in ethylene diamene tetra acitic acid (EDTA). DNA was extracted from whole blood using salting out method, and analyzed for ACE I/D polymorphism using allele specific polymerase chain reaction. Results: The results showed that, the genotype DD was the most frequent among both patients and control groups, followed by the genotype ID, whereas the genotype II was present in patients and completely absent in control group. There was a significant association between I allele of ACE and risk of AML (O.R: 3.5, 95%CI: 1.2-10.0 , P.value: 0.017). Conclusion: I allele of ACE is associated with increased risk of AML.Item Janus Kinase2 V617F Mutation in Sudanese Patients with Essential Thrombocythemia(Al Neelain University-Faculty of Medical Laboratory Sciences, 2016) Samia Ali Gafar; Elshazali Widaa AliBackground: Janus Kinase2 (JAK2) is a cytoplasm tyrosine kinase involved in transduction of signal from growth factor receptor on auto phosphorylation following activation via ligand binding, JAK2 recruit STAT molecules which are then phosphorylated and translocate to the nucleus to act as transcription factor. Mutations of JAK2 gene have reported to be associated with all myeloproliferative disorders with variable frequency. Objective : This study aimed to determine the frequency of JAK2 V617F mutation in Sudanese patients with Essential Thrombocythemia (ET) and investigate its correlation with platelet count, age of incidence, and patients' demographic data. Material and Methods: A total of 50 patients with ET were enrolled in this study. Three milliliter (ml) of venous blood was collected from each subject and DNA was extracted from peripheral leukocytes by salting out method. JAK2 V617F mutation was detected by allele –specific competitive blocker polymerase chain reaction. Platelet was counted using automated hematology analyzer. Results: A total of 50 Sudanese patients with essential thrombocythemia were enrolled in this study; 23(46%) of them were males and 27(54%) were females; their age range from 18 to 82 years. The results showed that 31(62%) of patients were positive for JAK2 V617F mutation. The platelet count was found higher in patients with the mutation than those without the mutation but the different was not statistically significant ((Mean±SD: 1071.6±543.5X103/μl and 956.3±508.9 X103/μl respectively, P.value: 0.85)). Also no statistically significant difference was found in mean age of incidence in patients with the mutation compared to those without the mutation (Mean±SD: 53.8±15.7 & 48.8±13.8 years respectively, P. value: 0.67). Conclusion: About two third of the Sudanese patients with ET were found to have JAK2 V617F mutation. Presence of the mutation has no significant effect on platelet count or age of incidence.