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Document Type |
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Thesis |
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Document Title |
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EXOME SEQUENCING OF SOME CLEFT LIP AND PALATE FAMILIES IN SAUDI ARABIA تحديد المتتابعات الوراثية الاكسومية لبعض العائلات السعودية التي يحمل بعض افرادها مرض الشفاه الارنبية او التشوهات في سقف الحلق |
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Subject |
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Faculty of Sciences |
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Document Language |
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Arabic |
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Abstract |
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Clefting of the lip and/or palate (CL/P) are among the most universal birth defects worldwide. The most CL/P phenotypes observed is the nonsyndromic (NSOFC). Prevalence of NSOFC ranges from 1/500 to 1/1,000 with an average of 1/700. Hence, the complex etiology of CL/P is associated with genetic and environmental factors interaction. Research using a variety of approaches (e.g. linkage analysis, genomic rearrangements, candidate genes, genome-wide association studies), had successfully led to the identification of several genes contributing to NSOFC.
The objective of this study was to illuminate new susceptibility genes related to NSOFC within a consanguineous Saudi family by using whole exome sequencing. Our results along with several cited evidence from various literature indicated the involvement of NRP1 gene (rs35320960) in bone differentiation, hence, occurrence of NSOFC. Interestingly, another gene, RPL27A (rs199996172) that is involved in ribosome biogenesis has passed all the filtering process as a candidate gene related to NSOFC. SNPs variants for both genes are located within the 5` UTR. Chances to detect potential transcription factors driving expression of the two genes, of which SNP variants are within their recognition sites, were explored. In conclusion, we speculate that loss of function mutation in the two candidate genes NRP1 and RPL27A might contribute to the etiology of the disease. The identified mutations could be further explored to establish their relationship to NSOFC at the gene expression level and study more families with NSOFC. |
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Supervisor |
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Dr. Sherif Idris |
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Thesis Type |
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Master Thesis |
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Publishing Year |
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1439 AH
2018 AD |
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Added Date |
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Monday, August 6, 2018 |
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Researchers
| هادية محمد المهدي | Al Mahdi, Hadia Mohammed | Researcher | Master | |
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