中国人先天性眼球震颤家系的致病基因分析

项目名称： 中国人先天性眼球震颤家系的致病基因分析

项目编号： No.81500759

项目类型： 青年科学基金项目

立项/批准年度： 2016

项目学科： 医药、卫生

项目作者： 杜伟

作者单位： 扬州大学

项目金额： 18万元

中文摘要： 先天性眼球震颤（Congenital Nystagmus，CN）是一种不自主的有节律的眼球的摆动，严重损害了婴幼儿的视觉发育。其发病机制有待研究，目前至少有超过一半的患者其致病基因难以明确。对其致病基因的研究是探索发病机制的基础，将为寻求产前诊断和早期治疗提供依据。我们已收集了多个中国人先天性眼球震颤的大家系及大量的散发病例，并对部分家系进行了已知致病基因和位点的筛查，本研究拟通过遗传性标志物连锁分析，结合候选基因克隆和靶向捕获高通量测序的方法鉴定家系的致病基因，并对其编码蛋白的功能进行研究，阐明致病机理。

中文关键词： 先天性眼球震颤；连锁分析；靶向捕获测序；致病基因

英文摘要： Congenital nystagmus(CN) is primarily a disorder defined as conjugated, spontaneous, and involuntary ocular oscillations, causing great damage to patients' visual development. The pathogenic mechanism needs futher research. Phathogenic genes remain unknown in more than one half of the patients. Study on the pathogenic genes will help explore the pathogenesis, and provide basis for prenatal diagnosis and early treatment. We've collected several Chinese CN families and a large number of sporadic cases, and screened the known pathogenic genes and loci in some of the families. In this study, we will focus on seeking new gene/genes associated with this disease through linkage analysis, candidate cloning and target capture sequencing. Futher we'll explore the functions of the coding protein and investigate its pathogenic mechanism.

英文关键词： Congenital nystagmus;Linkage analysis;Target capture sequencing;Pathogenic gene