Document Details

Document Type : Thesis 
Document Title :
DETECTION OF DNMT3A MUTATIONS IN PATIENTS WITH AML
الفحص عن طفرات الجين DNMT3A في مرضى سرطان الدم النخاعي الغير لمفاوي/ الحبيبي الحاد
 
Subject : Faculty of Applied Medical Sciences 
Document Language : Arabic 
Abstract : The understanding of the pathogenesis of hematological neoplasms has been aided significantly by the discovery of the DNA(cytosine-5-)-methyltransferase 3 alpha (DNMT3A) mutation and provided with additional capabilities for analysing and managing this type of disease. DNA methylation is a vital epigenetic modification that is mediated by DNMT3A gene. Mutations in DNMT3A affect the progression of the disease and therapy response. Recent studies have confirmed that mutations affecting codon R882 in the DNMT3A gene cause abnormal modification of DNA methylation, and are frequently involved in acute myeloid leukemia (AML) and related to poor survival. Therefore, we aimed in this study to screen a total of 19 Jeddah city patients with acute leukemia for DNMT3A mutations by sequencing the coding region of exon 23 covering residue R882. Also, we investigated the association of DNMT3A abnormality with the cytogenetic result. We identified a heterozygous mutation in three of AML patients, however, no mutations were identified in ALL patients. We also correlated the result with the cytogenetic finding and we found that DNMT3A mutation is more significant with normal karyotype. Our results support that the DNMT3A R882 is a frequent mutation in AML patient’s but rare in ALL patients. 
Supervisor : Dr. Heba Al-Khattabi 
Thesis Type : Master Thesis 
Publishing Year : 1440 AH
2018 AD 
Added Date : Thursday, November 29, 2018 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
أنس منصور عونOun, Anas MansourResearcherMaster 

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 43837.pdf pdf 

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