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Document Type |
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Thesis |
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Document Title |
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The objective : Whole Exome Sequence (WES) Analysis for One of the Rare Disorders (Epidermolysis Bullosa) Families from the South Western Region of Saudi Arabia التحليل الاكسومي لأحد الأمراض النادرة المسمى بانحلال البشرة الفقاعي في أسر من المنطقة الجنوبية الغربية من المملكة العربية السعودية |
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Subject |
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Faculty of Science |
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Document Language |
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Arabic |
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Abstract |
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Saudi Arabia is one of the highly inbred populations of the world. Due to the socioeconomic, geographic, cultural and traditional isolation of human population, ethnic groups specificities can be found across the population. Single gene disorders (Mendelian disorders) are rare in general population, however, such disorders become more frequent in highly inbred populations, such as Saudi Arabia leading for these disorders to appear in a homozygous state. Previously, genome wide homozygosity mapping followed by candidate gene sequencing were used to identify disease-causing variants. However, with the development of whole exome sequencing (WES) technology, gene identification has revolutionized genetic diagnosis of rare disorders in Saudi Arabia. The aim of this study was to investigate genetic mutations contributing the development of epidermolysis bullosa to build up candidate genes list. This study recruited a family from the South-Western region of Saudi Arabia where clinical and molecular investigation was carried out in the Genetic Medicine department at King Abdulaziz University Hospital, Jeddah. The family was diagnosed with epidermolysis bullosa, the non-Herlitz type (NH-JEB). Whole exome sequencing (WES) was performed followed by Sanger sequencing revealed two novel variants in LAMB3 gene that is causing the NH-JEB phenotype in the family (c.1977-1G>A, and c.484C>T). The study concludes that a clear clinical diagnosis aids in successful genetic diagnosis. Without a clear clinical picture, it will be difficult to ensure accurate genetic testing. WES analysis have multiple drawbacks in covering all the coding genes, but with clear clinical features, accurate test results will yield positive feedback |
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Supervisor |
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Dr. Mohammed Hussain faqeih |
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Thesis Type |
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Master Thesis |
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Publishing Year |
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1443 AH
2022 AD |
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Added Date |
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Monday, January 16, 2023 |
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Researchers
| بندر علي الشهري | AlShehri, Bandar Ali | Researcher | Master | |
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