Document Details

Document Type : Thesis 
Document Title :
Application of Molecular Genetics Techniques for Detecting Deleted Segmental Aneuploidy in Williams Syndrome
تطبيق تقنيات بحثية جزيئية لتحديد مناطق النقص فى الجينوم فى متلازمة ويليام
 
Subject : Biochemistry department 
Document Language : Arabic 
Abstract : William’s Syndrome (WS) is one of the most powerful models of human cognition and rare genetic disorder, the incidence of WS range between 1/7500 and 50,000 and is considered to be a segmental aneuploidy due to heterozygous deletion of a contiguous gene at the long arm of chromosome 7 at q11.23. The deletion size usually ranges between 1.5-1.8 Mb. At least 26 genes have been detected in the deletion region in WS patients. The aim of this study was to apply chromosomal analysis, Molecular Cytogenetic (Fluorescent In-Situ Hybridization) and Quantitative Real Time–Polymerase Chain Reaction (qRT-PCR) Techniques for detection of segmental Aneuploidy in WS, aiming to determine the efficient method for detection of the microdeletion at chromosome 7q11.23 in WS. The study included 29 DNA samples from patients referred with the provisional diagnosis of WS. No deletion was detected in 17 of the samples studied by chromosomal analysis. Deletion of 7q11.23 in 7 out of 23 patients was detected by FISH technique. QRT-PCR identified deletion in 9 out of 23 patients. In addition using qRT-PCR, deletion of variable size were identified indicating different break points on chromosome 7. Hence it can be concluded that the qRT-PCR technique is more accurate in detecting the deletion size in WS. 
Supervisor : Dr. Etimad Huwait 
Thesis Type : Master Thesis 
Publishing Year : 1435 AH
2013 AD 
Co-Supervisor : Dr. Mohammed AL-Qahtani 
Added Date : Monday, February 10, 2014 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
عفاف عبدالرحمن مقبوليMagbooli, Afaf AbdulrahmanResearcherMaster 

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