Document Details

Document Type : Thesis 
Document Title :
SCREENING FOR MUTATIONS IN HUMAN ASXL1 GENE ASSOCIATED WITH THE DEVELOPMENT OF MYELOID MALIGNANCIES
المسح الجزيئي للطفرات الموجودة في الجين البشري (ASXL1) والمرتبطة بتطور سرطان الدم
 
Subject : Faculty of Applied Medical Sciences 
Document Language : Arabic 
Abstract : Myeloid malignancies are diseases that affect the myeloid lineage production in bone marrow and peripheral blood of the patients. These disorders caused by many genetic defects that alter the nature of the myeloid stem cell. The latest epidemiological data collected worldwide suggests that incidence rate per 100,000 inhabitants/year were 2.5 for acute myeloid leukemia (AML) and increases for up to 12.5 for those above 65 years, 1.8 for chronic myeloid leukemia (CML), 1.3 for myelodysplastic syndromes (MDS), 3.2 for myeloroliferative neoplasms (MPN’s) and 0.6 for myelodysplastic/myeloproliferative syndromes. The ASXL1 (Additional Sex Combs Like 1) gene is located in the chromosomal region 20q11 and its mutations found to be a predictor of aggressive disease behavior in myeloid malignancies including myelodysplastic syndromes and myeloproliferative neoplasms and has been incorporated into a prognostic scoring system for CMML alongside karyotype and clinicopathologic parameters. This study investigates the involvement of ASXL1 gene mutations in the development of the previous diseases for a selected group of diagnosed subjects collected in the western region of Saudi Arabia. DNA screening for ASXL1 mutations applied on all the 81 samples using the Sanger’s DNA sequencing technique. Although there were no pathogenic mutations discovered in the outcome of this study, much focused work recommended using the modern next generation sequencing techniques; in order to comprehend the relation of ASXL1 mutations in the development of myeloid malignancies. 
Supervisor : Prof. Mamdouh Qari 
Thesis Type : Master Thesis 
Publishing Year : 1438 AH
2017 AD 
Added Date : Tuesday, June 13, 2017 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
زياد أحمد صغيرSaghir, Ziad AhmedResearcherMaster 

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