Document Details

Document Type : Thesis 
Document Title :
The Molecular Analysis of GJB2 Gene (Connexin 26) in Hereditary Deafness of Saudi Patients
التحليل الجزيئي لمورثة GJB2 (Connexin 26) في مرضى الصمم الوراثي السعوديين
 
Subject : Faculty of Sciences 
Document Language : Arabic 
Abstract : Non-syndromic hearing loss (NSHL) is one of the commonest sensory deficits in developed countries accounting for 1 to 2 of every 1000 newborn. This disease can result from many factors and heredity is responsible for 50% of the cases and in KSA this percentage increases to 55%. One gene GJB2 has been implicated as cause in 50% of the NSHL cases. Another gene that was found to be responsible for NSHL in Pakistan, India and Turkey, is TMIE gene. This study investigates two genes GJB2 and TMIE as the main cause of NSHL in Western region of KSA. Samples from unrelated patients with severe to profound hereditary form of NSHL and their families were collected for this study and a pedigree was obtained whenever possible. Patients samples were sequenced for all exons of the two genes and analyzed against a normal sequence. Linkage analysis for chromosome 11 was also done for patients samples. Out of 120 Saudi patients 10 Saudi patients were found to be positive for GJB2 mutations (8.3%) but none of these patients were from one of the well known Arabic tribal families in KSA. The positive cases were found to have other ethnic origin that might contribute to this result. None of the Saudi patients were found positive for the gene TMIE. Linkage analysis revealed some candidate genes; such as LRTOMT; that might be involved in NSHL in KSA. As a conclusion, GJB2 can be excluded as a main cause for NSHL in the western region of KSA. GJB2 can be used as a diagnostic tool for patient with ethnic origin to Yemen or Mediterranean region. TMIE can also be excluded as cause for NSHL and linkage analysis for other loci must be done to reveal new candidate as a cause for NSHL. 
Supervisor : Prof. Khalid Omar Abu Al Naja 
Thesis Type : Master Thesis 
Publishing Year : 1432 AH
2011 AD 
Co-Supervisor : Dr. Mohammed Hussain Al Qahtani 
Added Date : Wednesday, August 3, 2011 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
إبتسام محمد باغلابBaghallab, Ibtisam MohammadResearcherMaster 

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