Document Details

Document Type : Thesis 
Document Title :
Screening Exon 12 Mutations in Patients with Myeloproliferative Disorder Negative for the JAK2 V617F Mutation in Jeddah Region.
فحص الطفرة الوراثية في اكسون 12 في جين JAK2 لدى المرضى الذين يعانون من اضطراب التكاثر النقيي الغير حاملين لطفرة JAK2 V617F في محافظة جدة
 
Subject : Faculty of Applied Medical Sciences 
Document Language : Arabic 
Abstract : The understanding of the pathogenesis of myeloproliferative disorders has been aided significantly by the discovery of the JAK2 V617F mutation, and provided with additional capabilities for analysing and managing this type of disease. The JAK2 exon 12 mutations are quite new and have been found to generate induced cytokine-independent/hypersensitive reproduction in erythropoietin receptor-expressing cell lines and trigger the JAK-STAT pathway in myeloproliferative disorders (MPD). The triggering of signal transduction in hematopoietic malignancies is caused by the discovery of these new mechanisms with JAK2 exon 12 mutation being recorded in JAK2 V617F-negative patients with polycythemia Vera and idiopathic erythrocytosis which corresponds to about 5% of all polycythemia Vera (PV) cases. As part of this research , JAK 2 exon 12 mutations were investigated in 168 patients with a range of MPD symptoms. Those patients were previously screened for JAK2V617F in the molecular genetic laboratory at center of excellence in genomic medicine research. Using allele specific PCR to screen four common mutations on exon 12 in addition to screening the whole exon has shown that none of the patients were positive for the exon 12 mutation. This finding concludes that the JAK2 mutation is not prominent in our region and further screening of other predisposing genetic markers may lead to the identification of an important genetic variant that help in the understanding of disease pathogenesis. 
Supervisor : Prof. Adel Mohammed Abu Znada 
Thesis Type : Master Thesis 
Publishing Year : 1438 AH
2017 AD 
Co-Supervisor : Dr. Heba Al-Khatabi 
Added Date : Tuesday, April 11, 2017 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
هاشم معتوق السالميalsalmi, Hashim MatoqResearcherMaster 

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