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Item 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 AliBackground : 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.Item 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 AliBackground : 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.Item 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 AlimairiAbstract 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