90后大学生高度近视的基因分析和发病机制研究

Considering the difference of epidemiological characteristics in region, age and ethnicity, we will initially analyze our previous data of 12,000 college students which collected from two universities in Shanghai. In addition, on the basis of 11 reported high myopia (HM) related genes, mutation of the relevant gene, including the exons and 100bp flanking intronic regions will be analyzed by Sanger Sequencing in 1000 HM students from these 12,000 students. Mutation spectrum, relation between genotype and phenotype in HM will be illustrated as well. Furthermore, to observe the cell morphologies, ultrastructure, mRNA and protein over expression in cells, the construct plasmids which contain wild type and mutant gene will be transfected into human retinal pigment epithelial 19 (ARPE19) cells. This study will explore the HM causative gene and mutation spectrum in 1000 HM students in Shanghai and illuminate the mechanisms of HM mutation in cell.

针对不同地域、年代和人种的高度近视患病率不同的流行病学特点，采用前期研究，上海两所大学新生高度近视患病率调查的结果和血液样本，对12000例大学生的眼屈光参数进行流行病学分析。筛选已报道的11个高度近视致病基因，用直接测序法对其中1000例大学生高度近视患者进行筛查，分析基因的突变频谱，研究高度近视基因型和表型的联系。同时构建含目的基因野生型和突变型的质粒转染入人视网膜色素上皮细胞ARPE19，检测细胞形态、超微结构、相关基因过表达和蛋白变化，课题将探索中国当代大学生高度近视致病基因和突变频谱，同时初步揭示已知基因突变在视网膜色素上皮细胞中的作用机制。

针对不同地域、年代、人种高度近视患病率不同的流行病学特点,采用前期研究所得上海两所大学新生高度近视眼患病率调查结果和血液样本,对12000例近视眼流行病学资料进行深度数据分析。筛选出文献中13个与东亚人群高度近视发生关系密切的基因,对90后大学生高度近视384例、正视384例的19个单核苷酸多态性(single nucleotide polymorphisms，SNPs)进行检测,分析何种基因的SNP位点和高度近视相关。课题将发现与中国当代大学生高度近视关系密切的已知基因和SNPs,为近视眼防控提供依据。