Document Details

Document Type : Thesis 
Document Title :
The use of Fluorescence In- Situ Hybridization techniques in the detection of Microdeletion Syndromes
استخدام تقنيه التهجين الموضعي الوميضي في رصد متلازمات الحذف الجيني الجزيئي
 
Subject : Biochemistry department 
Document Language : Arabic 
Abstract : Microdeletion syndromes are a heterogenous group of disorder caused by the deletion of specific regions of chromosomal DNA causing haplo insufficiencies for important genes. These deletions are difficult to visualize using standard cytogenetic techniques. Fluorescence in situ hybridization (FISH) can resolve these submicroscopic deletions to a lower limit of approximately 3MB and has therefore become the method of choice for the diagnosis of these disorders. Deoxyribonucleic acide (DNA) FISH probes can be used in metaphase and interphase cells to detect these specific regions of deletion. The region deleted is known as typically deleted region (TDR) or critical region. There are different microdeletion syndromes such as Prader-Willi/ Angelman syndrome, Williams, DiGeorge, Smith- Magenis and Miller-Dieker syndromes. Of these, FISH probes for Prader-Willi /Angelman, Williams and DiGeorge syndromes are currently available in our laboratory. This study aimed to compare between cultured and uncultured peripheral blood using Fluorescence in situ hybridization technique for the detection of microdeletion syndromes and to study the concordance rate between the two methods. In this study 50 subjects diagnosed as patients with microdeletion syndromes and 15 subjects as control were used. The result of both cultured and un cultured FISH showed that out of 50 patients, 6 were positive and 44 were negative for microdeletion syndrome. In the case of Praderwilli/Angelman syndrome out of 21 patients, all (100%) gave negative result. In the case of DiGeorge syndrome out of 19 cases, 2(10%) gave positive result and the rest 17(90%) gave negative result. For William’s syndrome out of total 10 cases, 4(40%) gave positive result and 6 (60%) gave negative result. In conclusion, interphase from uncultured FISH is rapid, reliable, cost effective and give same result as metaphase from culture FISH . The interphase FISH is especially suitable for medical urgent cases. 
Supervisor : Prof .Taha Kumosani 
Thesis Type : Master Thesis 
Publishing Year : 1433 AH
2012 AD 
Co-Supervisor : dr.Mohammed Hosain 
Added Date : Sunday, May 20, 2012 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
منى محمد المغامسيAL-Mughamsi, Muna MohammedResearcherMaster 

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