高度近视与15个短串联重复序列基因座多态性的相关性  

Relationship of 15 short tandem repeats loci polymorphisms with high myopia

作　　者：曹林枝[1] 滕少康[2] 覃瑞[3] 

机构地区：[1]福建漳州卫生职业学院生物化学教研室,漳州363000 [2]福建漳州卫生职业学院人体解剖学教研室,漳州363000 [3]右江民族医学院附属医院眼科,百色533000

出　　处：《解剖学杂志》2014年第6期812-815,共4页Chinese Journal of Anatomy

基　　金：广西青年科学基金（桂科青0640075）

摘　　要：目的：分析15个短串联重复序列（STR）基因座多态性与高度近视的相关性.方法：收集300份广西壮族高度近视患者以及300份壮族正常人（正常对照组）的外周血样.应用AmpFlSTR（R）IdentifilerTM荧光标记复合扩增系统对样本DNA进行基因型分析.比较2组人群15个STR基因座（CSFlPO、D2S1338、D3S1358、D5S818、D7S820、D8S1179、D13S317、D16S539、D18S51、D19S433、D21Sl1、TPOX、TH01、vWA、FGA）的等位基因频率.结果：高度近视患者D2S1338-17、D2S1338-26、D21S11-30.2的等位基因频数与正常对照组相比差异有统计学意义,相关统计学参数依次为P＜0.001 （OR=0.22,95％,CI=0.13～0.40）、P=0.004（OR=3.17,95％,CI=1.44～6.97）、P=0.003（OR=2.49,95％,CI=1.36～4.57）.其余13个STR基因座等位基因频数分布差异无统计学意义.结论：D2S1338、D21S11基因座附近可能存在与高度近视相关的易感基因.Objective：To explore the association of 15 short tandem repeats loci polymorphisms with high myopia.Methods：Blood samples were collected from 300 high myopia patients and 300 healthy subjects of Zhuang in Guangxi.Genotypes were determined with AmpF1STR（R） IdentifilerTM fluorescent marker composite amplification system.Allele frequencies were compared,on 15 STR loci （CSFIPO,D2S1338,D3S1358,D5S818,D7S820,D8S1179,D13S317,D16S539,D18S51,D19S433,D21Sl1,TPOX,TH01,vWA,FGA）,between high myopia patients and non-related healthy people from Guangxi.Results：Allele frequency of D2S1338-17,D2S1338-26 and D21S11-30.2,respectively showed a statistical significance （P＜0.05） between the two groups.The related statistical parameters were P＜0.001.（OR=0.22,95％CI=0.13-0.40）,P=0.004 （OR=3.17,95％CI=1.44-6.97） and P=0.003 （OR=2.49,95％ CI=1.37-4.57）.And the comparison of the remaining 13 loci between the two groups had no statistical significance.Conclusion：D2S1338 and D21S11 may be associated with high myopia of Zhuang nationality in Guangxi,which suggests that there exist susceptibility or resistance gene to high myopia.

关 键 词：高度近视 短串联重复序列 基因多态性 

分 类 号：R394[医药卫生—医学遗传学]