拷贝数变化
自闭症
比较基因组杂交
基因复制
遗传学
基因座(遗传学)
病因学
生物
自闭症谱系障碍
人类遗传学
人口
基因组
基因
医学
精神科
环境卫生
作者
Safiah Alhazmi,Mathkar A. Alharthi,Maryam Alzahrani,Aisha Alrofaidi,Fatemah Basingab,Asma Almuhammadi,Heba Alkhatabi,Abrar Ashi,Adeel G. Chaudhary,Aisha Elaimi
出处
期刊:Biomedical Reports
[Spandidos Publications]
日期:2024-06-03
卷期号:21 (1)
摘要
Autism spectrum disorder (ASD) manifests as a neurodevelopmental condition marked by challenges in social communication, interaction and the performing of repetitive behaviors. The prevalence of autism increases markedly on an annual basis; however, the etiology remains incompletely understood. Cytogenetically visible chromosomal abnormalities, including copy number variations (CNVs), have been shown to contribute to the pathogenesis of ASD. More than 1% of ASD conditions can be explained based on a known genetic locus, whereas CNVs account for 5‑10% of cases. However, there are no studies on the Saudi Arabian population for the detection of CNVs linked to ASD, to the best of our knowledge. Therefore, the aim of the present study was to explore the prevalence of CNVs in autistic Saudi Arabian children. Genomic DNA was extracted from the peripheral blood of 14 autistic children along with four healthy control children and then array‑based comparative genomic hybridization (aCGH) was used to detect CNVs. Bioinformatics analysis of the aCGH results showed the presence of recurrent and non‑recurrent deletion/duplication CNVs in several regions of the genome of autistic children. The most frequent CNVs were 1q21.2, 3p26.3, 4q13.2, 6p25.3, 6q24.2, 7p21.1, 7q34, 7q11.1, 8p23.2, 13q32.3, 14q11.1‑q11.2 and 15q11.1‑q11.2. In the present study, CNVs in autistic Saudi Arabian children were identified to improve the understanding of the etiology of autism and facilitate its diagnosis. Additionally, the present study identified certain possible pathogenic genes in the CNV region associated with several developmental and neurogenetic diseases.
科研通智能强力驱动
Strongly Powered by AbleSci AI