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目的找到潜在的与儿童发展性阅读障碍发病相关易感基因,初步揭示儿童发展性阅读障碍发病的分子遗传学机制。方法以2010年1月-2013年12月在齐齐哈尔医学院附属医院与齐齐哈尔市第一医院诊断为发展性阅读障碍儿童121例和同期117例正常儿童为研究对象,利用Affymetrix Genome-Wide SNP 6.0基因芯片,根据病例与对照研究策略,完成基于Pooling DNA病例-对照相关分析,筛选儿童发展性阅读障碍易感相关SNP位点,并通过Pathway分析,找到出儿童发展性阅读障碍发病相关功能基因。结果 ROBO1基因的rs331142和rs12495133及DYX1C1基因的rs3743205和rs11629841位点在病例组和对照组间的基因型频率及等位基因分布均有差异。结论 ROBO1基因的rs331142和rs12495133及DYX1C1基因的rs3743205和rs11629841位点的基因多态与发展性阅读障碍相关。
Objective To find out the potential susceptibility genes associated with the development of dyslexia in children and to reveal the molecular genetic mechanism of the development of dyslexia in children. Methods A total of 121 children with developmental dyslexia and 117 normal children during the same period were enrolled in the Affiliated Hospital of Qiqihar Medical College and First Hospital of Qiqihar from January 2010 to December 2013. Affymetrix Genome-Wide SNP 6.0 gene According to the case and control strategies, SNP loci were selected based on case-control analysis of Pooling DNA to screen susceptibility-related SNPs in children with Dyslexic Dyslexia. Pathway analysis was used to identify genes related to the pathogenesis of DLDD. Results rs331142 and rs12495133 of ROBO1 gene and rs3743205 and rs11629841 of DYX1C1 gene were different in genotype frequency and allele distribution between case group and control group. Conclusion The gene polymorphisms of rs374205 and rs11629841 of rs331142 and rs12495133 of ROBO1 gene and DYX1C1 gene are associated with developmental dyslexia.