【摘要】：目的通過研究高度近視患者單核苷酸多態(tài)性(single nucleotide polymorphisms, SNP),揭示高度近視發(fā)生發(fā)展的分子機制,為高度近視的預防和治療提供科學依據(jù)。 方法應用Illumina公司610-Quad Bead Chips對100例高度近視患者和80例正常人進行全基因組掃描,統(tǒng)計分析后篩選出較少數(shù)量的陽性SNP。采用更大樣本的病例—對照樣本人群,采用SnaPshot法檢測506例高度近視患者和991名正常健康者SNP的基因型。根據(jù)樣本所得各SNP基因型,計算其基因型與等位基因的頻率；采用卡方檢驗比較病例—對照組之間基因型與等位基因頻率分布的差異。結(jié)合兩個階段的結(jié)果進行分析,最終得出與高度近視相關(guān)的SNP位點。 結(jié)果6個SNP位點的基因型均符合Hardy-Weinberg平衡(P0.05)。其中rs1943049、rs7035322兩個位點的基因型頻率和等位基因頻率在高度近視組和對照組間的差別具有統(tǒng)計學意義(P0.05)。rs934857、rs1105191、rs10811299和rs7933853位點的基因型及等位基因頻率在高度近視組和對照組間無統(tǒng)計學意義(P0.05)。 結(jié)論rs7035322位點單核苷酸多態(tài)性與高度近視易感性相關(guān)。
[Abstract]:Objective to investigate the molecular mechanism of occurrence and development of high myopia by single nucleotide polymorphism (single nucleotide polymorphisms, SNP),) in high myopia and to provide scientific basis for the prevention and treatment of high myopia. Methods 100 patients with high myopia and 80 normal controls were scanned by Illumina 610-Quad Bead Chips. A small number of positive SNP. was screened by statistical analysis. The SNP genotypes of 506 patients with high myopia and 991 normal controls were detected by SnaPshot method. The frequencies of genotypes and alleles were calculated according to the SNP genotypes, and the differences between genotypes and alleles were compared by chi-square test. Combined with the results of the two stages, the SNP loci associated with high myopia were obtained. Results the genotypes of the 6 SNP loci were in line with the Hardy-Weinberg balance (P0.05). The genotypic and allelic frequencies of two rs1943049,rs7035322 loci were significantly different between the high myopia group and the control group (P0.05). The genotype and allele frequencies of rs934857 and rs7933853 locus were not significantly different between the high myopia group and the control group (P0.05). Conclusion single nucleotide polymorphism at rs7035322 site is associated with high myopia susceptibility.
【學位授予單位】：青島大學
【學位級別】：碩士
【學位授予年份】：2011
【分類號】：R778.11

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