基因洞察:研究 CNTNAP2 rs7794745 基因多态性及其对伊拉克幼发拉底河中游地区自闭症谱系障碍儿童 ABLLS 评估的影响

IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL
Safaa R. M. AL-Safar, Haydar F. S. AL-Zubaidy, Roaa Hameed Alwaidh
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引用次数: 0

摘要

目的:使用 ABLLS-r 研究 CNTNAP2 基因多态性对伊拉克自闭症谱系障碍儿童行为疗法反应的影响。方法:本研究从 AL-SIBTEIN 学院获得了 150 份自闭症谱系障碍样本,但由于面临诸多挑战,最终样本数量为 50 份。聚合酶链式反应-限制是一种结合使用聚合酶链式反应(PCR)和限制酶的技术,用于扩增和分析某些 DNA 序列。片段长度多态性(PCR-RFLP)用于对 rs7794745 处的 CNTNAP2 基因进行基因分型。通过汇总 ABLLS 数据并将其转换为百分比,确定了所有 25 个 ABLLS-R 曲目和所有四个主要成分的从属参数。这为我们提供了每个语汇中完成任务的比例。结果:将基因型数据(AA/AT/TT)与 ABLLS-R 所显示的行为疗法反应相关联后,我们只发现了 rs7794745 变体患者 AA/TT 基因型频率与社会互动领域之间存在统计学意义上的显著差异。相反,其余 24 个子域则没有明显的相关性。结论这一研究课题可以为根据基因模型的影响来确定和分类需要发展的技能领域提供重要信息。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic Insights: Examining CNTNAP2 rs7794745 Gene Polymorphism and Its Impact on ABLLS Assessment in Middle Euphrates Children in Iraq with Autism Spectrum Disorder
Objective:  examine the effect of CNTNAP2 gene polymorphism on behavioral therapy response in Iraqi children with autism spectrum disorder using ABLLS-r. Methods: In this study, 150 samples for autism spectrum disorder were obtained from AL-SIBTEIN ACADEMY, however owing to many challenges, the final number of samples was 50 patients. Polymerase Chain Reaction-Restriction refers to a technique that combines the use of polymerase chain reaction (PCR) with restriction enzymes to amplify and analyze certain DNA sequences. Fragment Length Polymorphism (PCR-RFLP) was used to genotype the CNTNAP2 gene at rs7794745. All 25 ABLLS-R repertoires and all four primary components had their dependent parameters determined by aggregating and converting the ABLLS data to a percentage. This provided us with the proportion of finished assignments from each repertoire. Results: After correlating the genotype data (AA/AT/TT) with the behavioral therapy response as indicated by ABLLS-R, we only discovered a statistically significant difference between the frequency of AA/TT genotypes in the rs7794745 variant in patients and the social interaction domain. Conversely, the remaining 24 subdomains exhibited no discernible correlation. Conclusion: This research topic could provide significant information on targeting and categorizing which skill areas need to be developed based on genetic models' influence.
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来源期刊
Journal of Contemporary Medical Sciences
Journal of Contemporary Medical Sciences MEDICINE, GENERAL & INTERNAL-
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65
审稿时长
12 weeks
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