本文選題：閱讀障礙 + 漢語(yǔ)��； 參考：《華中科技大學(xué)》2016年碩士論文

【摘要】：目的:探討DIP2A基因多態(tài)性與兒童漢語(yǔ)閱讀障礙易感性的關(guān)系,為闡明閱讀障礙的發(fā)病機(jī)制及開展預(yù)防干預(yù)措施提供科學(xué)依據(jù)。方法:1.本研究采用病例-對(duì)照研究的方法,選取“閱讀環(huán)境與閱讀障礙研究”項(xiàng)目中409名漢語(yǔ)閱讀障礙兒童和410名閱讀能力正常兒童。對(duì)其問(wèn)卷信息進(jìn)行描述統(tǒng)計(jì)分析,以探究影響閱讀障礙發(fā)生的家庭環(huán)境因素。2.采集研究對(duì)象的口腔上皮細(xì)胞以提取基因組DNA。根據(jù)DIP2A基因生物學(xué)信息篩選其功能性常見(jiàn)變異位點(diǎn),并通過(guò)Sequenom Mass Array系統(tǒng)對(duì)其多態(tài)性進(jìn)行檢測(cè)。通過(guò)擬合優(yōu)度c2檢驗(yàn)判斷基因型分布是否符合Hardy-Weinberg遺傳平衡定律;使用c2檢驗(yàn)比較病例組和對(duì)照組等位基因和基因型頻率分布。采用非條件logistic回歸模型分析DIP2A基因單核苷酸多態(tài)性(SNP)與閱讀障礙易感性的關(guān)系。所有統(tǒng)計(jì)分析采用SPSS13.0軟件包實(shí)現(xiàn)。結(jié)果:1.因13個(gè)兒童DNA樣本未能成功基因分型(6個(gè)病例,7個(gè)對(duì)照),故最終納入研究的對(duì)象為403名閱讀障礙組兒童和403名對(duì)照組兒童。性別和年齡在病例組和對(duì)照組之間的差異無(wú)統(tǒng)計(jì)學(xué)意義(c2性別=0.010,P性別=0.919;t年齡=0.852,P年齡=0.394)。2.結(jié)構(gòu)方程模型結(jié)果顯示兒童家庭經(jīng)濟(jì)社會(huì)水平影響家庭閱讀環(huán)境的營(yíng)造,進(jìn)而影響漢語(yǔ)閱讀障礙的發(fā)生(該模型中比較適配指數(shù)CFI為0.976,規(guī)準(zhǔn)適配指數(shù)NFI為0.968,漸進(jìn)殘差均方和平方根RMSEA為0.058)。3.根據(jù)DIP2A基因易感位點(diǎn)的篩選條件和基因型分型結(jié)果,僅rs2255526和rs16979358位點(diǎn)納入研究分析。rs2255526等位基因頻率在病例組和對(duì)照組之間分布差異具有統(tǒng)計(jì)學(xué)意義(c2=5.09,P=0.024),各基因型頻率在兩組之間分布差異無(wú)統(tǒng)計(jì)學(xué)意義(c2=5.28,P=0.071)。rs16979358位點(diǎn)的等位基因頻率和各基因型頻率分布在兩組之間差異均無(wú)統(tǒng)計(jì)學(xué)意義(P0.05)。調(diào)整年齡、性別的影響后,rs2255526位點(diǎn)攜帶基因型GG個(gè)體發(fā)生閱讀障礙的風(fēng)險(xiǎn)是攜帶基因型為AA個(gè)體的1.833倍(OR=1.833,95%CI=1.043-3.223,P=0.035)。加性模型顯示,攜帶等位基因G是發(fā)生閱讀障礙的危險(xiǎn)因素(OR=1.297,95%CI=1.036-1.623,P=0.023)。顯性模型中,基因型為AG+GG的個(gè)體與基因型為AA個(gè)體相比,其發(fā)生閱讀障礙的危險(xiǎn)性升高,差異接近統(tǒng)計(jì)學(xué)意義(OR=1.314,95%CI=0.992-1.741,P=0.057)。隱性模型中,攜帶基因型GG的個(gè)體發(fā)生閱讀障礙的風(fēng)險(xiǎn)是基因型AA+AG個(gè)體的1.677倍,差異亦接近于統(tǒng)計(jì)學(xué)意義(OR=1.677,95%CI=0.967-2.908,P=0.066)。此外,本研究未發(fā)現(xiàn)rs16979358位點(diǎn)的多態(tài)性與閱讀障礙的易感性有關(guān)(P0.05)。結(jié)論:DIP2A基因rs2255526位點(diǎn)的多態(tài)性可能是漢語(yǔ)閱讀障礙的遺傳易感因素之一。
[Abstract]:Objective: to explore the relationship between polymorphism of DIP2A gene and susceptibility of children with Chinese dyslexia, and to provide scientific basis for elucidating the pathogenesis of dyslexia and carrying out preventive intervention measures. Method 1: 1. In this study, 409 children with Chinese dyslexia and 410 normal children were selected from the study of reading environment and dyslexia by a case-control study. In order to explore the family environmental factors that affect the occurrence of dyslexia, the questionnaire information is described and analyzed. The oral epithelial cells were collected to extract genomic DNA. According to the biological information of DIP2A gene, the functional common mutation sites were screened, and its polymorphism was detected by Sequenom Mass Array system. The allele and genotype frequency distribution in the case group and the control group were compared by c2 test to determine whether the genotype distribution was in accordance with the Hardy-Weinberg genetic balance law. The relationship between single nucleotide polymorphisms (SNPs) of DIP2A gene and susceptibility to dyslexia was analyzed by non conditional logistic regression model. All statistical analysis is implemented by SPSS13.0 software package. The result is 1: 1. Because 13 children's DNA samples could not be genotyped successfully (6 cases, 7 controls), 403 children with dyslexia and 403 control children were included in the study. There was no significant difference in sex and age between the case group and the control group. The results of structural equation model show that the economic and social level of children's family affects the construction of family reading environment. In this model, the relative adaptation index (CFI) is 0. 976, the standard adaptation index (NFI) is 0. 968, and the progressive residual mean square and square root RMSEA are 0. 058 ~ 0. 3. According to the screening conditions of susceptibility sites of DIP2A gene and the results of genotyping, Only the rs2255526 and rs16979358 loci were included in the study. The allele frequency of rs2255526 was significantly different between the case group and the control group. There was no significant difference in the alleles of the alleles at locus 0.071. rs16979358 between the two groups. There was no significant difference in frequency and genotype frequency distribution between the two groups (P 0.05). After adjustment of age and sex, the risk of dyslexia in GG individuals carrying genotype rs2255526 was 1.833 times as high as that in AA individuals. The additive model showed that carrying allele G was a risk factor for dyslexia. In the dominant model, the risk of dyslexia in individuals with genotype AG GG was higher than that in individuals with genotype AA, and the difference was close to the statistical significance. In the recessive model, individuals carrying genotype GG were 1.677 times more likely to develop dyslexia than those with genotype AA AG, and the difference was close to the statistical significance. In addition, no association between polymorphism of rs16979358 locus and susceptibility to dyslexia was found in this study. Conclusion the polymorphism of the rs2255526 locus of the 1: DIP2A gene may be one of the genetic susceptibility factors for Chinese dyslexia.
【學(xué)位授予單位】：華中科技大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2016
【分類號(hào)】：R749.94

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