中国汉族人群病理性高度近视与EGR1和LAMA2基因多态位点的关联分析（英文）

发布时间：2018-06-16 22:23

本文选题：高度近视 + EGR基因　；参考：《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》2016年03期

【摘要】：目的:检测分析EGR1和LAMA2基因序列中单核苷酸多态性位点(SNP)在中国汉族人病理性高度近视的遗传机制中的作用。创新点:检测了EGR1基因外显子序列中的SNP,验证了其与高度近视发病无关联;检测了LAMA2基因中热点区域中的三个SNP,发现在我国汉族人群中,这几个SNP与高度近视发病的遗传机制无关,与先前国外报道结果不同。方法:收集167个高度近视核心家系以及485例散发高度近视患者和499例正视眼对照者。根据Hap Map单倍型数据库以及先前的研究结果选择标签SNP(图1和2),测定所收集患者的相应基因型,采用Haploview和卡方分析软件作关联分析,并以关联分析效能软件计算本研究的计算效能(表3和4)。结论:本研究在汉族人高度近视人群中未检测到阳性关联信号,需要进一步的研究深入验证。
[Abstract]:Objective: to investigate the role of single nucleotide polymorphisms (SNPs) in EGR1 and LAMA2 gene sequences in the pathogenesis of high myopia in Chinese Han population. Innovation: SNPs in exon sequence of EGR1 gene were detected, which were not associated with high myopia, and three SNPs in hot spot region of LAMA2 gene were detected, which were found in Chinese Han population. These SNPs have no relationship with the genetic mechanism of high myopia, and are different from the previous results reported abroad. Methods: 167 nuclear families of high myopia 485 sporadic high myopia and 499 orthopic controls were collected. According to the Hap Map haplotype database and previous research results, the label SNPs (figures 1 and 2) were selected to determine the corresponding genotypes of the collected patients. Haploview and chi-square analysis software were used for correlation analysis. The computational efficiency of this study is calculated by the correlation analysis efficiency software (tables 3 and 4). Conclusion: no positive correlation signals were detected in the Han population with high myopia.
【作者单位】： Department
【基金】：Project supported by the Natural Science Foundation of Zhejiang Province(No.LY14H120003) the Qianjiang Talent Project of Zhejiang Province(No.2013R10040),China
【分类号】：R778.11

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