应用SNaPshot方法研究高度近视患者的单核苷酸多态性

发布时间：2018-08-28 16:32

【摘要】：目的通过研究高度近视患者单核苷酸多态性(single nucleotide polymorphisms, SNP),揭示高度近视发生发展的分子机制,为高度近视的预防和治疗提供科学依据。方法应用Illumina公司610-Quad Bead Chips对100例高度近视患者和80例正常人进行全基因组扫描,统计分析后筛选出较少数量的阳性SNP。采用更大样本的病例—对照样本人群,采用SnaPshot法检测506例高度近视患者和991名正常健康者SNP的基因型。根据样本所得各SNP基因型,计算其基因型与等位基因的频率；采用卡方检验比较病例—对照组之间基因型与等位基因频率分布的差异。结合两个阶段的结果进行分析,最终得出与高度近视相关的SNP位点。结果6个SNP位点的基因型均符合Hardy-Weinberg平衡(P0.05)。其中rs1943049、rs7035322两个位点的基因型频率和等位基因频率在高度近视组和对照组间的差别具有统计学意义(P0.05)。rs934857、rs1105191、rs10811299和rs7933853位点的基因型及等位基因频率在高度近视组和对照组间无统计学意义(P0.05)。结论rs7035322位点单核苷酸多态性与高度近视易感性相关。
[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.
【学位授予单位】：青岛大学
【学位级别】：硕士
【学位授予年份】：2011
【分类号】：R778.11

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