Hamiyet Eciroglu, E. Şener, D. Öztop, Sevgi Özmen, Dilek Kaan, Yusuf Özkul
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引用次数: 0

摘要

目的:探讨自闭症谱系障碍(ASD)患者学习记忆障碍与神经l1和RGS14基因的关系。方法:选取40例ASD患儿(20例ASD, 20例高功能自闭症(HFA))和20例健康对照。采用实时荧光定量PCR (quantitative Real-Time PCR, qRT-PCR)检测志愿者血液中NEURL1和RGS14基因的表达。确定患者的临床和人口学结果,并检查与基因表达的关系。结果:与对照组相比,两组患者NEURL1基因表达均降低(p0.05)。HFA患者学习记忆困难与RGS14基因表达有统计学意义(p = 0.045)。ASD患者NEURL1与RGS14基因表达量呈正相关(p=0.032, r=0,59)。结论:本研究提示NEURL1基因可能是ASD的候选基因。尽管如此,我们建议对这两种基因进行更多的患者研究,最好是对脑组织进行研究。这些基因首次在自闭症的临床研究中被评估,我们相信它们将对这方面的文献有所贡献。
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Otizm Spektrum Bozukluğu Olan Hastalarda Öğrenme ve Hafıza Bozukluklarının NEURL1 ve RGS14 Genleri ile İlişkisi
Aim: We aimed to evaluate the relationship between learning-memory difficulties and NEURL1 and RGS14 genes in patients with autism spectrum disorders (ASD). Method: Forty children with ASD (20 ASD, 20 high functioning autism (HFA)) and 20 healthy controls were enrolled in this study. NEURL1 and RGS14 gene expressions in the blood samples of volunteers were assessed by quantitative Real-Time PCR (qRT-PCR). The clinical and demographical findings in patients were determined and examined relation with the gene expressions. Results: According to our findings, NEURL1 gene expression was decreased in both patient groups compared to the control (p0.05). A statistically significant correlation was found between learning and memory difficulties and RGS14 gene expression in HFA patients (p = 0.045). There was a positive correlation between between NEURL1 and RGS14 gene expressions of ASD patients (p=0.032, r=0,59). Conclusion: According to this study, NEURL1 gene may be proposed as a candidate gene for ASD. Nonetheless, we recommend that both genes be studied with more patients and preferably with brain tissues. These genes were evaluated for the first time in a clinical study on autism, and we believe that they will contribute to the literature in this respect.
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