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Deanship of Graduate Studies
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 Type
Dr Grade
Email
أنس منصور عون
Oun, Anas Mansour
Researcher
Master
Files
File Name
Type
Description
43837.pdf
pdf
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