王志超，沈黎，刘得水，李丹，吴桐2，，赵阿勐，崔光成.齐齐哈尔医学院，黑龙江齐齐哈尔　6006；2.齐齐哈尔市第一医院，黑龙江齐齐哈尔　6006

DYX1C1基因rs3743205位点等位基因的功能研究

王志超1，沈黎1，刘得水1，李丹1，吴桐2，1，赵阿勐1，崔光成1
1.齐齐哈尔医学院，黑龙江齐齐哈尔161006；2.齐齐哈尔市第一医院，黑龙江齐齐哈尔161006

目的为鉴定儿童发展性阅读障碍发病相关易感基因DYX1C1的rs3743205位点-3C/T不同等位基因对基因调控区转录活性的影响。方法本研究构建含DYX1C1基因rs3743205位点-3C/T不同等位基因的萤光素酶报告基因重组质粒，体外转染原代培养神经细胞并测定其瞬时表达萤光素酶活性。结果体外转染增殖期原代培养神经细胞，含等位基因-3T重组质粒的报告基因荧光素酶表达活性高于含等位基因-3C重组质粒，并均低于PGL3-control Plasmid。结论位于DYX1C1基因5'调控区的rs3743205位点-3T等位基因可能参与基因的转录调控，-3C等位基因可能是儿童发展性阅读障碍的易感基因。

儿童发展性阅读障碍；DYX1C1基因；rs3743205位点；转录活性

［Abstract］Objective To identify the effect of children developmental dyslexia invasion susceptibility gene DYX1C1 rs3743205 site-3C/T different gene alleles on transcription activity in gene control region.Methods The luciferase reporter gene recombinant plasmid containing DYX1C1 gene rs3743205 site-3C/T different gene alleles was structured，and the nerve cells were primarily cultured transfection in vitro and the transcient expression of luciferase activity was measured. Results The nerve cells were primarily cultured in transfection in vitro multiplication period，the expression activity of luciferase containing gene alleles-3T recombinant plasmid reporter gene is higher than that of the recombinant plasmid containing gene alleles-3C，and both were lower than that of PGL3-control plasmid.Conclusion The rs3743205 site-3T gene alleles in the gene alleles gene 5'control region may participate in the gene transcriptional control，and-3C gene alleles may be the susceptibility genes of children developmental dyslexia.

［Key words］Children developmental dyslexia；DYX1C1 gene；Rs3743205 site；Transcription activity

发展性阅读障碍（Developmental Dyslexia）是在儿童学龄期普遍出现的一种学习障碍，部分儿童虽然拥有正常智力、情感以及相应的教育及社会文化机会，但在阅读方面会出现特殊学习困难状态［1］。儿童发展性阅读障碍是一种神经认知缺陷，家族聚集研究以及双生子研究发现语言障碍具有明显的家族聚集性［2］。儿童发展性阅读障碍的全基因组关联研究发现DYX1C1基因的rs3743205位点的基因多态与发展性阅读障碍相关［3］，但是DYX1C1基因多态性的对神经系统的功能影响尚不清楚。……