Document Details

Document Type : Thesis 
Document Title :
Molecular Diagnosis of Fragile x Syndrome Using Genetic Techniques in a Saudi Cohort
التشخيص الجزيئي لمتلازمة كروموسوم اكس الهش باستخدام التقنيات الوراثية في مجموعة سعودية
 
Subject : Biochemistry department 
Document Language : Arabic 
Abstract : Fragile X syndrome is the most common form of inherited mental retardation. Its frequency is estimated to be approximately 1/1,500 for affected males and 1/2,500 affected females. The disease is caused by a CGG trinucleotide tandem repeat at the 5' untranslated region of the FMR-1 gene located at Xq27.3. Aims: To establish a molecular genetics technique for diagnosis of cases affected with fragile X syndrome. Methodology: Bisulfite treatment of DNA was followed by molecular testing using two different techniques. First: MS-PCR was performed using two sets of primers, one set of primers was specific for amplifying methylated C residues in affected males and the other pair of primers was designed to amplify the unmethylated repeats in healthy males. The second technique used the real time PCR based on methylation-specific melting curve analysis (MS-MCA) for detection of methylation status of the FMR-1 promoter region. Results: The study included a total of 51 cases, 43 males and 8 females with mental retardation, their ages range between 7 months to 27 years. Other family members were included: 6 mothers, 9 sisters and 5 fathers. Results of PCR using methylated and unmethylated PCR primers in male cases revealed 36\43 (83.72%) unaffected and 7\43 (16.28%) affected individuals respectively. Results for real time PCR revealed single low melting peak in 34\43 (79.07%) indicating unmethylated FMR-1 gene, and hence unaffected males, and high melting peak 9\43 (20.93%) indicating affected males. Conclusion: The real time PCR technique proved to be more sensitive, reliable and rapid for the diagnosis of cases with fragile x syndrome. No female cases or carriers could be detected by both techniques. Other techniques such as Gene scan can be applied for detection of high repeats in affected cases in the future. 
Supervisor : Dr. Sahira Ahmed Lary 
Thesis Type : Master Thesis 
Publishing Year : 1433 AH
2012 AD 
Co-Supervisor : Dr. Adeel Gulzar Chaudhary 
Added Date : Tuesday, July 31, 2012 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
مها محسن القعيطيAl-Quaiti, Maha MohsinResearcherMaster 

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