Document Details

Document Type : Thesis 
Document Title :
WTI MUTATIONS AND POLYMORPHISMS IN ACUTE LEUKEMIA PATIENTS.
تعدد الأشكال لجين WTI gene ومخاطرها المتعلقة بسرطان الدم الليمفاوي.
 
Subject : faculty of Applied Medical Sciences 
Document Language : Arabic 
Abstract : Background: Genomic alterations of the Wilms Tumor 1 (WT1) gene have been reported to occur in patients with acute leukemia. WT1 has been described to be both overexpressed and mutated in different forms of acute leukemia, which is believed to play a prognostic role in this disease. No data presently exists regarding the frequency of WT1 mutations and polymorphism in the Saudi acute leukemia population. This study focused on the correlations between exon 7 and 9 mutations, and rs 16754 polymorphism and the increase the risk of developing acute leukemia. Subjects and Methods: A total of 53 untreated Saudi adults with acute leukemia was selected as a study group. The zinc finger domain of WT1 gene covering exon 7 (including the SNP rs 16754) and exon 9 were amplified by a polymerase chain reaction and direct sequencing for the detection of mutations and SNP. Results: WT1 gene mutations were found in three patients out of 53 (10%) in AML patients, most of which were found in exon 7. The genotype frequency for WT1 rs16754 in AML group was 51.43% for wild type (AA), 37.14% for mutated Heterozygous (AG), and 12.12% for mutated Homozygous (GG). Regards to ALL, no patients carry mutated Homozygous (GG), but the subjects that carry Heterozygous AG is 25%. The G allele was present as minor allele but A is a minor allele. Statistical analysis shows that there are no significant differences in genotype between the control group and ALL patients P=0.493, OR 95% =0.872 (0.605-1.257) As well as there are no significant differences in genotype between the Control group and AML patients P=0.268 and the OR 95% =1.391 (0.630-3.072). Conclusion and Recommendations: In the Saudi population, the Wilms tumor gene (WT1) gene A>G mutation appears to be not associated with an increased risk of developing ALL and AML. We recommend that larger sample size is needed to establish the association between the risk of acute leukemia and the presence of mutations. 
Supervisor : Prof. Refaat Al-Fayoumi 
Thesis Type : Master Thesis 
Publishing Year : 1441 AH
2020 AD 
Added Date : Thursday, January 16, 2020 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
ناديه ربيع الصاعديALSaadi, Nadiah RabeeResearcherMaster 

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