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Document Type |
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Thesis |
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Document Title |
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GENETIC VARIATIONS IN NR4A2 GENE BETWEEN AUTISTIC AND NORMAL CHILDREN التغيرات الجينية في الجين NR4A2 بين أطفال التوحد والأطفال الطبيعيين |
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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 is a spectrum condition of disorders (ASD), which includes a complex of mental, neurological, and behavioral syndromes. Many genes contributing to ASD, like GLO1, CAMK2A, and NR4A2, play an essential role in brain influence. NR4A2 gene encodes a steroid–thyroid hormone–a retinoid receptor that acts as a nuclear receptor (NR) transcription factor. NR4A2 plays an essential role in differentiation, homeostasis, and development. Various polymorphisms in NR4A2 have been associated with disorders related to dopaminergic dysfunction, such as Parkinsons disease, schizophrenia, and manic depression. A mutation in the NR4A2 gene produces a dysfunctional or defective protein that may influence brain development and behaviors. The study aimed to investigate the differential genetic variation in the NR4A2 gene of autistic children in our population compared with their healthy control siblings using the Sanger sequencing of NR4A2 eight exons regions. The logistic regression model performed multivariate analysis to test for an independent predictive effect of statistically significant variables on a univariate level by calculating the odds ratio and 95% confidence interval. Pearson correlation analysis was also performed. The result revealed that the ASD patients had different genetic variations in exon 3 in 10 patients out of 12; firstly, missense SNPs were detected, leading to amino acid substitutions. Secondly, frameshift with no mutation produces truncated protein. Third, frame-shift single nucleotide polymorphism generates early stop codons and a truncated protein. In conclusion, there is a genetic variation between autistic and control cases in exon 3 of the NR4A2 gene. These findings can be used as a biomarker for autism and be an extension of another new research. |
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Supervisor |
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Dr. Najwa Al-Harbi |
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Thesis Type |
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Master Thesis |
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Publishing Year |
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1445 AH
2023 AD |
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Added Date |
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Saturday, September 16, 2023 |
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Researchers
| وجدان فيصل باعبود | Baaboud, wejdan Faisal | Researcher | Master | |
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