应用全外显子测序技术鉴定年龄相关性白内障的新致病基因

项目名称： 应用全外显子测序技术鉴定年龄相关性白内障的新致病基因

项目编号： No.81470618

项目类型： 面上项目

立项/批准年度： 2015

项目学科： 医药、卫生

项目作者： 刘平

作者单位： 哈尔滨医科大学

项目金额： 73万元

中文摘要： 白内障的发病机制迄今尚未完全揭示，并且尚缺乏有效的预防和药物治疗。本课题拟从年龄相关性白内障患者DNA修复基因多态性研究的基础上，探讨全基因组外显子的变异在白内障发生，发展中的作用。首先收集黑龙江地区1000-1500例汉族年龄相关性白内障患者血样（病例组）和与病例组年龄，性别相匹配的正常对照组随机血样1000-1500例。然后，提取所有血样DNA并应用全外显子测序检测技术确定易感基因。在确定易感基因基础上进一步筛查基因的变异情况，鉴定相关的风险易感基因的变异情况。根据易感基因变异检测结果，全面评估相关遗传变异和汉族人年龄相关性白内障遗传易感性的关系 。相关软件分析连锁不平衡与关联分析在群体遗传结构及其变化机制研究中的应用。建立汉族人年龄相关性白内障易感基因谱和突变谱。结合差异蛋白质组学研究结果，制定合理的遗传资讯策略和基因筛查策略。

中文关键词： 年龄相关性白内障；晶状体；信号通路

英文摘要： The mechanism of cataract has not been fully clarified by now,and there were not sufficient and effective prevention and pharmacotherapy.Our study plan to begin with DNA repair gene polymorphism in age related cataract patients and consult the role of DNA repair genes polymorphism in occurrence and development of cataract.We firstly collected 1000-1500 cases of Han people of of blood samples of age related cataract patients in Heilongjiang area (cases group) and 500-1000 cases of random blood samples matched with sex as normal control group. Then ,we extracted DNA from all blood samples and perform sequencing technology of full axon to assure susceptible genes.On the basis of assuring susceptible genes,we will furtherly detect variable condition of genes to identify variable condition of realted risk susceptible genes.In relation to detecting results of susceptible genes variation ,we will fully evaluate the relationship between related genetic variation and genetic susceptibility for age related cataract in Han Chinese people.We will perform Haploview software to analyse the application of linkage discrepacy and association analysis in population genetic struction and variable mechanism.We should establish susceptible genes chart and mutation chart in age realted cataract.We will combine the results of differential proteomics to draw up genetic information strategy and genes screening policy.

英文关键词： age related cataract;lens;signal pathway