本文選題：發(fā)展性閱讀障礙　切入點(diǎn)：維吾爾族　出處：《石河子大學(xué)》2017年碩士論文

【摘要】：目的1.研究DCDC2基因多態(tài)性與新疆維吾爾族兒童發(fā)展性閱讀障礙的關(guān)聯(lián)性;2.探究DCDC2基因多態(tài)性和環(huán)境因素間交互作用與新疆維吾爾族兒童發(fā)展性閱讀障礙易感性的關(guān)聯(lián)性。方法1.在新疆南部地區(qū)的維吾爾族小學(xué)中選取閱讀障礙兒童196例,按照同年級(jí)、同性別、同年齡選取正常對(duì)照兒童196例進(jìn)行病例對(duì)照研究。刮取兩組兒童的口腔粘膜脫落細(xì)胞,采用SNPscanTM技術(shù)對(duì)14個(gè)DCDC2單核苷酸多態(tài)性位點(diǎn)進(jìn)行檢測(cè)。采用c2檢驗(yàn)進(jìn)行單位點(diǎn)等位基因頻率和基因型頻率的分析,應(yīng)用Haploview4.2軟件對(duì)多個(gè)位點(diǎn)進(jìn)行單體型分析,比較兩組間的差異?2.初步篩選出對(duì)新疆維吾爾族兒童閱讀障礙有影響的環(huán)境因素;運(yùn)用多因子降維法(Multifactor Dimensionality Reduction,MDR)探討DCDC2基因多態(tài)性與環(huán)境因素間的交互作用與閱讀障礙的相關(guān)性,選擇十重交叉驗(yàn)證一致性最高、檢驗(yàn)樣本準(zhǔn)確度最大、統(tǒng)計(jì)結(jié)果有顯著性差異的組合作為最佳模型。結(jié)果1.位點(diǎn)rs807724,rs2274305,rs4599626的等位基因頻率在病例組和對(duì)照組之間的差異有統(tǒng)計(jì)學(xué)意義(P0.05),位點(diǎn)rs9467075和rs2274305在顯性模型下組間基因型頻率的差異有統(tǒng)計(jì)學(xué)意義(P0.05),位點(diǎn)rs6456593和rs6922023在顯性模型以及雜合優(yōu)勢(shì)模型下組間基因型頻率的差異均有統(tǒng)計(jì)學(xué)意義(P0.05)。此外,單體域rs9295619-rs807701-rs807724-rs2274305的單體型T-G-C-T以及單體域rs3765502-1087266的單體型T-A在病例組和對(duì)照組間的差異具有統(tǒng)計(jì)學(xué)意義(P0.05)。2.MDR分析顯示,由父母鼓勵(lì)兒童經(jīng)常閱讀課外書(shū)籍、兒童完成作業(yè)情況、家庭經(jīng)濟(jì)月收入及位點(diǎn)rs6456593和rs2274305多態(tài)性五因子間聯(lián)合作用的檢驗(yàn)樣本準(zhǔn)確度為0.6166(P=0.012);十重交叉驗(yàn)證的一致率為10/10,明顯優(yōu)于其他模型,故將其作為本研究的最佳模型。結(jié)論1.DCDC2基因多態(tài)性(rs6456593,rs9467075,rs807724,rs2274305,rs4599626,rs6922023)與新疆維吾爾族兒童發(fā)展性閱讀障礙相關(guān)。2.DCDC2基因多態(tài)性(位點(diǎn)rs6456593和rs2274305)與環(huán)境因素(父母鼓勵(lì)兒童經(jīng)常閱讀課外書(shū)籍、兒童完成作業(yè)情況和家庭經(jīng)濟(jì)月收入)間交互作用與新疆維吾爾族兒童發(fā)展性閱讀障礙的疾病易感性相關(guān)。
[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.
【學(xué)位授予單位】：石河子大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2017
【分類(lèi)號(hào)】：R749.94

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