新疆维吾尔族儿童发展性阅读障碍候选基因DCDC2与环境交互作用的研究

发布时间：2018-04-01 17:40

本文选题：发展性阅读障碍　切入点：维吾尔族　出处：《石河子大学》2017年硕士论文

【摘要】：目的1.研究DCDC2基因多态性与新疆维吾尔族儿童发展性阅读障碍的关联性;2.探究DCDC2基因多态性和环境因素间交互作用与新疆维吾尔族儿童发展性阅读障碍易感性的关联性。方法1.在新疆南部地区的维吾尔族小学中选取阅读障碍儿童196例,按照同年级、同性别、同年龄选取正常对照儿童196例进行病例对照研究。刮取两组儿童的口腔粘膜脱落细胞,采用SNPscanTM技术对14个DCDC2单核苷酸多态性位点进行检测。采用c2检验进行单位点等位基因频率和基因型频率的分析,应用Haploview4.2软件对多个位点进行单体型分析,比较两组间的差异?2.初步筛选出对新疆维吾尔族儿童阅读障碍有影响的环境因素;运用多因子降维法(Multifactor Dimensionality Reduction,MDR)探讨DCDC2基因多态性与环境因素间的交互作用与阅读障碍的相关性,选择十重交叉验证一致性最高、检验样本准确度最大、统计结果有显著性差异的组合作为最佳模型。结果1.位点rs807724,rs2274305,rs4599626的等位基因频率在病例组和对照组之间的差异有统计学意义(P0.05),位点rs9467075和rs2274305在显性模型下组间基因型频率的差异有统计学意义(P0.05),位点rs6456593和rs6922023在显性模型以及杂合优势模型下组间基因型频率的差异均有统计学意义(P0.05)。此外,单体域rs9295619-rs807701-rs807724-rs2274305的单体型T-G-C-T以及单体域rs3765502-1087266的单体型T-A在病例组和对照组间的差异具有统计学意义(P0.05)。2.MDR分析显示,由父母鼓励儿童经常阅读课外书籍、儿童完成作业情况、家庭经济月收入及位点rs6456593和rs2274305多态性五因子间联合作用的检验样本准确度为0.6166(P=0.012);十重交叉验证的一致率为10/10,明显优于其他模型,故将其作为本研究的最佳模型。结论1.DCDC2基因多态性(rs6456593,rs9467075,rs807724,rs2274305,rs4599626,rs6922023)与新疆维吾尔族儿童发展性阅读障碍相关。2.DCDC2基因多态性(位点rs6456593和rs2274305)与环境因素(父母鼓励儿童经常阅读课外书籍、儿童完成作业情况和家庭经济月收入)间交互作用与新疆维吾尔族儿童发展性阅读障碍的疾病易感性相关。
[Abstract]:Objective 1. To study the association between DCDC2 gene polymorphism and developmental dyslexia in Xinjiang Uygur children 2.To explore the interaction between DCDC2 gene polymorphism and environmental factors and the susceptibility of Xinjiang Uygur children to developmental dyslexia. Methods 1. 196 children with dyslexia were selected from Uygur primary schools in southern Xinjiang. According to the same grade, the same sex and the same age, 196 normal control children were selected for the case-control study. The oral mucosal exfoliated cells were obtained from the two groups. The single nucleotide polymorphism (SNP) loci of 14 DCDC2 were detected by SNPscanTM, allele frequency and genotype frequency were analyzed by c2 test, haplotype analysis of multiple loci was carried out by Haploview4.2 software, and the differences between the two groups were compared. 2. To screen out the environmental factors that influence the dyslexia of Uygur children in Xinjiang, and to explore the relationship between the interaction of DCDC2 gene polymorphism and environmental factors and the dyslexia by using multi-factor dimensionality reduction method. The highest consistency and accuracy of the test samples were obtained by selecting ten cross validation methods. Results 1. The allele frequency of rs807724 rs2274305 rs4599626 was significantly different between case group and control group (P 0.05). The genotype frequency of locus rs9467075 and rs2274305 in dominant model was higher than that in control group (P < 0.05). There were significant differences in the frequency of genotype between rs6456593 and rs6922023 in dominant model and heterozygosity model. In addition, there were significant differences in genotype frequencies between the two groups under the dominant model and heterozygosity model. The haplotype T-G-C-T of monomeric rs9295619-rs807701-rs807724-rs2274305 and the haplotype T-A of monomeric rs3765502-1087266 were significantly different between the case group and the control group. The accuracy of family monthly income and the combined effect of five factors of rs6456593 and rs2274305 polymorphism was 0.6166% P0.012, and the consistency rate of decade-cross validation was 10 / 10, which was significantly better than that of other models. Conclusion 1.DCDC2 gene polymorphism rs6456593rs9467075rs807724 rs2274305rs4599626rs6922023 is associated with developmental dyslexia in Uygur children in Xinjiang. 2.DCDC2 polymorphism (loci rs6456593 and rs2274305) and environmental factors (parents encourage children to read extracurricular books frequently). The interaction between children's homework and monthly family income was associated with the susceptibility to developmental dyslexia of Uygur children in Xinjiang.
【学位授予单位】：石河子大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R749.94

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