Browsing by Author "Elshazali Widaa Ali"

Now showing 1 - 6 of 6

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 Ali
Background: 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.
Association of Angiotensin Converting Enzyme Insertion/Deletion Polymorphism with Vaso-occlusive Complications of Sickle Cell Anaemia
(جامعة النيلين - كلية الدراسات العليا, 2017-01-16) Sana Abass Mahjoub; Enaam Abdelrhman; Mohammed Elfatih Mohy El-Deen; Mustafa Sharf Eldin Mustafa; Elshazali Widaa Ali
Background : Angiotensin I-converting enzyme (ACE), dipeptidyl peptidase, is a membrane-hound enzyme, which is present in endothelial and epithelial cells of various tissues, and innards including lungs and kidneys. ACE converts angiotensin I to H, a very potent vasoconstrictor agent . Angiotensin is a hormone as well as a locally produced cellular factor, directly affecting vascular endothelial cells and smooth muscles. Furthermore, it has been demonstrated that receptors of angiotensin II are found in the atherosclerotie vessel walls. It is pointed out that angiotensin II can promote vasoconstriction, inﬂammation, and thrombosis in the vascular endothelium and vessel walls. Besides being a potent vasoconstrictor, angiotensin Il is a proatherogenic agent, which elevates plasminogen activator inhibitor-l levels, which results in a decrease in the ﬁbrinolytic activityhe ACE I/D polymorphism is an insertion/deletion of an ALU-repeat sequence of 287 base pairs (hp) in intron 16 of the ACE gene, located at l7q23. This results in three genotypes: II, ID, and DD.] Previous studies have reported that plasma levels of angiotensin II are closely associated with ACE insertion/deletion (I/D) polymorphism and that the serum level of ACE is likely to increase 2-fold in the presence of ACE D/D polymorphism, consequently increasing the levels of plasma angiotensin H. Objectives: This study aimed to determine the frequency of ACE genotypes (II/ID/DD) in Sudanese patients with SCA and correlate these genotypes with disease complications. Materials and methods: A total of 50 patients with SCA and 40 healthy volunteers as a control group were enrolled in this study. Three milliliters of ethylenediamine tetraacetic acid anticoagulated blood were collected from each subject, DNA was extracted by salting-out method, and target DNA regions of the ACE gene were ampliﬁed using allele-speciﬁc polymerase chain reaction. Data of this study was analyzed by Statistical Package for Social Sciences. Frequency of qualitative variables was calculated, and correlation was tested by Chi-square test. Regression was used to investigate the association between the polymorphism and complications of SCA. Results: The frequencies of the DD, ID, and II genotypes were 42%, 50%, and 8%, respectively, for patients, whereas in the control group, it was 80% for DD genotype and 20% for ID, while II genotype was totally absent. The regression analysis showed no statistically signiﬁcant association between the disease complications and each of the ACE polymorphic genotypes. Conclusion: No statistically signiﬁcant association was found between ACE polymorphism and complications of SCA.
Association of Platelet Glycoprotein IIIa Gene Polymorphisms with Myocardial Infarction among Sudanese Patients
(جامعة النيلين - كلية الدراسات العليا, 2017-01-16) Mohanad Altayeb Mohamed Ahmed; Elshazali Widaa Ali; Gamal Mahmoud Alimairi
Abstract Background: ' The platelet glycoprotein IIb/IHa receptor plays an important role in platelet aggregation. The [Ha polypeptide is polymorphic due to a single base change at position 1565 resulting in either proline PI M or leucine Pl AZ at position 33 in the protein. Platelet activation plays a pivotal role for the initiation of acute coronary syndromes. Platelet indices are potentially useful markers for the early diagnosis of thromboembolic diseases. It has recently been reported that the Pl“ variant may strongly associated with the risk of acute coronary syndromes. Objective: this study aimed to investigate platelet glycoprotein IHa gene polymorphisms and platelet indices with myocardial infarction among Sudanese patients. 221 Methods: The genomic DNA was extracted by salt out method. The platelet glycoprotein IIIa gene polymorphisms were determined by using RFLP-PCR technique and platelet indices analyzed by using Sysmex KX-21N. Results: A total of 200 participants were enrolled in this study; 100 patients with conﬁrmed diagnosis of MI, and 100 apparently healthy individuals as a control group. 74 (74%) of patients were males and 26 (26%) were females, their age ranged from 25 to 90 years (Mean=kSD: 62:\: 13.3). Of the control group, 46 (46%) were males and 54 (54%) were females, their age ranged from 25 to 86 years ('MeaniSD: 56.4 il5.3).The GP IIIa genotypes showed statistically signiﬁcant association (P.value <0.05) with myocardial infarction. In patients group, the most frequency of GPIIIA genotypes was Le/Le (44%) followed by Le/Pro (41%) and Pro/Pro (15%) consequently. While for the control group, the most frequent GPIIIA genotype was Le/Le (80%) followed by both Le/Pro (10%) and Pro/Pro (10%). The presence of Le/Le genotype and Le/Pro genotype signiﬁcantly increases the risk of MI (OR=5.09; 95% CI: 2.71-9.55) and (OR=2.03; 95% CI: l.59-2.58) respectively. MPV, PDW and P-LCR were signiﬁcantly increased in patients with MI compared to healthy controls. Moreover, the mean of MPV, PDW and P-LCR were not significantly different when compared among different genotypes. Conclusions: We concluded that, in our subjects, the Le/Le, Le/Pro genotypes of platelet glycoprotein Illa is an important risk factors for developing MI. Furthermore, the platelet indices were increasing in patient with MI compared to normal control. 222
FLT3 - Internal Tandem Duplication and C-kit D816V Mutations in Sudanese Patients with Acute Myeloid Leukaemia
(جامعة النيلين - كلية الدراسات العليا, 2017-01-16) Nada Daoud Elzubeir; Leena Babiker Mirghani; Elshazali Widaa Ali
Background : There are considerable data showing that AML, like other human cancers, is the consequence of more than one mutation. ﬁns-like tyrosine kinase 3 (FLT3) and KJT genes belong to the family of tyrosine kinase class HI receptors that induce signals for cell proliferation. Mutations of these genes; however, result in autonomously leukemic cell proliferation and an unfavorable prognosis. Objectives: To determine the frequency of C-kit D8l6V and FLT3 ITD mutations among Sudanese patients with AML. Material and method: This study included 44 newly diagnosed AML Sudanese patients. Two and half milliliter (ml) of venous blood were collected from each patient in EDTA container for hematological and molecular analysis. Genomic DNA was extracted by DNA Salting out protocol . All samples were analyzed for FLT3-ITD mutation on chromosome 13, exon 11 using conventional PCR and C-kit mutation at codon 816 of exon 17 using allele speciﬁc PCR. Data was analyzed by statistical package for social sciences (SPSS), version 20. Result: A total of 44 Sudanese patients diagnosed with AML were enrolled in this study .l9(43.2%) were males and 25 (56.8%) were females ; their age ranged 2-92 years (mean 39.53). Blast percent was ranged 23-90% (mean: 54.1%) and total WBCs count ranged 2100- 28000/L (mean: 1631). The results showed that, while FLT3-ITD mutation was totally absent, C-kitD816V mutation was foimd in 50% of the patients. No statistically signiﬁcant difference was found in mean age of incidence (P. value = 0.974), blast percentage (P.value = 0.595), and total WBCs count (P. value = 0.123). The results showed no statistically signiﬁcant correlation between C- kitD8l6V mutation and each of gender ( P.value = 0.761) and subclass 0fAML (P. value = 0.818). Conclusion: C-kit D8l6V mutation was found in half the Sudanese patients with AML while FLT3 —ITD mutation was totally absent. C- kit mutation has no effect on age of incidence, blast percentage, and total WBCS count, and has no correlation with gender and subclass of AML.
Frequency of bcr1 and bcr3 PML/RARA transcripts in Sudanese Patients with Promyelocytic Leukaemia
(2018) Galia Zakaria Abed Alnabi; Elshazali Widaa Ali
Background: Patients with acute promyelocytic leukemia (APL) usually express one of 3 primary hybrid transcripts of t(15;17). The 3 fusion transcripts within the promyelocytic leukemia (PML) gene are a result of heterogeneous breakpoint in the cluster regions (bcr) described as bcr1 (long), bcr2 (variant), and bcr3. Objective: This study aimed to determine the frequency of bcr transcripts in Sudanese patients with APL. Materials and methods: Peripheral blood samples were collected in EDTA blood tube for molecular and haematological investigations and bone marrow aspirates were collected for examination of promyelocytes morphology. Samples were obtained from patients referred to the Radioisotope center of Khartoum (RICK), Sudan. Genomic DNA was extracted from peripheral leucocytes and RT-PCR and nested PCR techniques were performed using primers specific for bcr1 and bcr3. Following a successful amplification of DNA by PCR, the amplified fragments were separated using agarose gel electrophoresis. Results: The heterozygous genotype Bcr1/Bcr3 was the most frequent (52.0 %) among APL patients followed by the genotype Bcr3/Bcr3 (25.3%) and Bcr1/Bcr1 (22.7%) respectively. Statistically, significant association between genotypes and each of the patients' gender or cell granulation was not was found (P>0.05). There was no statistically significant difference in haematological parameters compared to patients with different genotypes. Conclusion: The heterozygous bcr1/bcr3 genotype was the most prevalent in Sudanese patients with APL followed by the homozygous genotypes bcr3/bcr3 and bcr1/bcr1 consequently.
Janus Kinase2 V617F Mutation in Sudanese Patients with Essential Thrombocythemia
(Al Neelain University-Faculty of Medical Laboratory Sciences, 2016) Samia Ali Gafar; Elshazali Widaa Ali
Background: 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.