伊拉克儿童自闭症:调查幼发拉底河中游地区的 CNTNAP2 rs7794745 多态性v

IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL Journal of Contemporary Medical Sciences Pub Date : 2024-07-02 DOI:10.22317/jcms.v10i3.1577
Safaa R. M. AL-Safar, Haydar F. S. AL-Zubaidy
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引用次数: 0

摘要

研究目的本研究旨在通过比较自闭症儿童和健康对照组中 CNTNAP2 基因多态性 rs7794745 位点的频率,确定该基因多态性是否与自闭症谱系障碍(ASD)有关。研究方法病例对照研究共涉及 150 个样本,包括 80 名被诊断患有自闭症谱系障碍(ASD)的患者和 70 名健康儿童。这些参与者有男有女,自闭症患者的平均年龄为(3.5 ± 3)岁,健康儿童的平均年龄为(4.2 ± 3)岁。基因组分析是通过聚合酶链式反应(PCR)和限制性酶对 DNA 序列进行扩增和仔细检查。具体而言,采用 PCR-RFLP 方法对 CNTNAP2 基因 rs7794745 位点进行了基因分型。为便于基因分型,从健康儿童和患者的外周血细胞中分离 DNA。结果研究结果表明,与健康儿童相比,rs7794745 SNP 在 ASD 患者中的低频分布(P 值 > 0.05)在统计学上并不显著。结论研究结果表明,rs7794745 多态性与自闭症谱系障碍(ASD)之间不存在相关性。
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Autism in Iraqi Children: Investigating the CNTNAP2 rs7794745 Polymorphism in the Middle Euphratesv
Objectives: This study aims to determine if the CNTNAP2 gene polymorphism at the rs7794745 locus is associated with autism spectrumdisorder (ASD) by comparing its frequency in autistic children and healthy controls. Methods: The case-control study involved a total of 150 samples, comprising 80 individuals diagnosed with autism spectrum disorder(ASD) and 70 healthy children. These participants, both male and female, had an average age of 3.5 ± 3 years for autistic individuals and4.2 ± 3 years for healthy children. Genomic analysis was performed by amplifying and scrutinizing DNA sequences through the utilizationof polymerase chain reaction (PCR) and restriction enzymes. Specifically, the genotyping of the CNTNAP2 gene at the rs7794745 locus wasaccomplished using the PCR-RFLP method. To facilitate genotyping, the isolation of DNA from peripheral blood cells sourced from healthychildren and patients. Results: Our findings indicated a statistically non-significant low-frequency distribution (P-value > 0.05) of the rs7794745 SNP in ASDpatients compared to healthy children. Conclusion: The study’s findings propose that there is no correlation between the rs7794745 polymorphism and autism spectrum disorder (ASD).
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来源期刊
Journal of Contemporary Medical Sciences
Journal of Contemporary Medical Sciences MEDICINE, GENERAL & INTERNAL-
自引率
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发文量
65
审稿时长
12 weeks
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