11q24.1单核苷酸多态性与高度近视遗传易感性相关研究  

Correlation between single nucleotide polymorphism in 11q24. 1 chromosome and high myopia hereditary susceptibility

作　　者：王昕华[1] 张晓宇[1] 毕涵思 赵畅[1] 李若溪[1] 

机构地区：[1]中国辽宁省沈阳市第四人民医院眼科,110031

出　　处：《国际眼科杂志》2013年第12期2482-2484,共3页International Eye Science

基　　金：辽宁省科学技术计划(No.2011225014)~~

摘　　要：目的:研究中国大学生高度近视遗传易感性与11q24.1染色体上4个单核苷酸多态性的相关性。方法:收集经常近距离作业的中国大学生血液样本(254例),分为高度近视组(42例)、低中度近视组(61例)和无近视眼的对照组(151例),利用基因分型技术分析位于11q24.1染色体4个单核苷酸rs577948,rs11218544,rs10892819,rs11218553的SNPs位点的等位基因突变频率,利用卡方检验检测其与三组样本之间的差异及相关性。结果:大学生高度近视组一个单核苷酸SNP位点即11q24.1染色体区域rs577948的变异与正常对照组和低中度近视组有显著差异(P=2.28×10-7)。结论:轻度近视和无近视的中国大学生遗传易感性和4个SNPs均无明显关联,且两组之间亦无显著差异。大学生中高度近视人群11q24.1染色体区域rs577948位点A→G变异与高度近视遗传易感性密切相关。AIM： To study the correlation between genetic susceptibility to high myopia and single nucleotide polymorphisms （ SNPs） in 11q24.1 chromosome among Chinese college students. METHOD： A total of 254 blood samples were obtained from Chinese college students who were often engaged in near work.The students were divided into high myopia group （ 42 cases ） , low to moderate myopia group （ 61 cases） and non-myopic group （151 cases）.Genotyping technology was utilized to analyze the frequency of mutation of the SNPs alleles of four mononucleotides in the 11q24.1 chromosome, including rs577948, rs11218544, rs10892819 and rs11218553.And the Chi-square test was performed to test the difference of such mutation with myopia. RESULTS：The frequency of the SNP alleles mutation of the mononucleotide rs577948 site in the high myopia group was significantly different from that in the low-to-moderate myopia group and the non-myopic group （ P=2.28×10-7 ）. CONCLUSION： There is no significant correlation between genetic susceptibility and the four variations of SNPs between mild myopic population and normal population and there is no significant difference between the two populations, either.However, A -G mutation of Rs577948 site in 11q24.1 chromosome in university students with high myopia group is closely associated with high myopia hereditary susceptibility.

关 键 词：单核苷酸多态性 遗传易感性 高度近视 

分 类 号：R778.11[医药卫生—眼科]