本文選題：高度近視 + EGR基因��； 參考：《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》2016年03期

【摘要】：目的:檢測(cè)分析EGR1和LAMA2基因序列中單核苷酸多態(tài)性位點(diǎn)(SNP)在中國(guó)漢族人病理性高度近視的遺傳機(jī)制中的作用。創(chuàng)新點(diǎn):檢測(cè)了EGR1基因外顯子序列中的SNP,驗(yàn)證了其與高度近視發(fā)病無(wú)關(guān)聯(lián);檢測(cè)了LAMA2基因中熱點(diǎn)區(qū)域中的三個(gè)SNP,發(fā)現(xiàn)在我國(guó)漢族人群中,這幾個(gè)SNP與高度近視發(fā)病的遺傳機(jī)制無(wú)關(guān),與先前國(guó)外報(bào)道結(jié)果不同。方法:收集167個(gè)高度近視核心家系以及485例散發(fā)高度近視患者和499例正視眼對(duì)照者。根據(jù)Hap Map單倍型數(shù)據(jù)庫(kù)以及先前的研究結(jié)果選擇標(biāo)簽SNP(圖1和2),測(cè)定所收集患者的相應(yīng)基因型,采用Haploview和卡方分析軟件作關(guān)聯(lián)分析,并以關(guān)聯(lián)分析效能軟件計(jì)算本研究的計(jì)算效能(表3和4)。結(jié)論:本研究在漢族人高度近視人群中未檢測(cè)到陽(yáng)性關(guān)聯(lián)信號(hào),需要進(jìn)一步的研究深入驗(yàn)證。
[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.
【作者單位】： 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
【分類(lèi)號(hào)】：R778.11

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本文編號(hào)：2028304