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Document Type |
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Thesis |
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Document Title |
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Copy Number Variation in Saudi Autistic Children التباين في عدد النسخ لأطفال التوحد السعوديين |
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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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Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by difficulties in social communication and interaction along with repetitive behaviors. The prevalence of autism is increased dramatically each year while the etiology of autism is still not fully understood. The cytogenetically visible chromosomal abnormalities which refer to copy number variations (CNVs) have been contributing to the pathogenesis of ASD. More than 1% of ASD conditions can be analyzed via genetic locus whereas the ratio rises by nearly 5-10% by CNVs. However, few studies in Saudi Arabia has been detected the CNVs linked to ASD. Therefore, the experimental investigation was conducted in this study to explore the related CNVs in Saudi autistic children.The genomic DNA was extracted from the peripheral blood of 14 Saudi autistic children along with four healthy control children then array‐based comparative genomic hybridization (aCGH) was used to detect CNVs.
Bioinformatics analysis of aCGH reported that recurrent and non-recurrent deletion/duplication CNVs were detected in many regions of the genome of autistic children. The most frequent CNVs are (1q21.2, 3p26.3, 4q13.2, 6p25.3, 6q24.2, 7p21.1, 7q34, 7q11.1, 8p23.2, 13q32.3, 14q11.1 - q11.2, 15q11.1 - q11.2, Xp22.33, Yp11.32, Yp11.2, Yq11.21).
In this study, the result identified CNVs in Saudi autistic to comprehend more about the etiology of autism which may facilitate the diagnosis of autism in Saudi Arabia. Additionally, this study illustrated the importance of aCGH in autism diagnosis since it can be used to characterize a patient sample in terms of potential cytogenetic aberrations through the detection of CNVs. |
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Supervisor |
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Dr. Safiah Hamed Alhazmi |
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Thesis Type |
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Master Thesis |
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Publishing Year |
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1444 AH
2023 AD |
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Co-Supervisor |
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Dr. Aisha Hassan Elaimi |
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Added Date |
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Thursday, April 27, 2023 |
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Researchers
| مرام ساعد الحارثي | Alharthi, Maram Saed | Researcher | Master | |
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