新的CMN致病基因的定位与克隆

项目名称： 新的CMN致病基因的定位与克隆

项目编号： No.30800615

项目类型： 青年科学基金项目

立项/批准年度： 2009

项目学科： 轻工业、手工业

项目作者： 肖学珊

作者单位： 中山大学

项目金额： 18万元

中文摘要： 先天性运动性眼球震颤（congenital motor nystagmus, CMN）是以双眼不自主震颤运动为特征的疾病，推测由脑部控制眼球运动的神经网络异常有关，属单基因遗传病，分子机制不明。我们对常染色体显性遗传CMN大家系进行了全基因组扫描连锁分析和全外显子组测序分析，结果将两个CMN大家系分别定位在同一染色体区域（1q31），我们所发现的这个新的CMN基因位点相关结果部分已在国际知名期刊发表、部分待发表。本研究为揭示CMN致病基因及其致病机制提供了重要基础，后续研究正在继续进行。我们还对伴眼球震颤相关眼病进行了研究。已发表标注本基金资助的国际SCI期刊论文6篇（其中第一或通讯作者4篇）。

中文关键词： 先天性运动性眼球震颤；定位；致病基因；机制

英文摘要： Congenital motor nystagmus (CMN) is an isolated form of nystagmus characterized by bilateral involuntary ocular oscillation. It is supposed that the primary defect of CMN is in the central nervous system where ocular motor is controlled. CMN is inherited as Mendelian traits but its molecular mechanism is as yet unknown. We have analyzed large families with CMN by genome-wide linkage analysis as well as exome sequencing. We have mappeg the disease gene in two independent families to a novel locus at 1q31.The results from one family have been published in Human Genetics and those for another family hve been prepared to submit.Our study established an important base toward the identification of the molecular baisis of CMN. Searching for the causative gene in this novel locus is still on the way. Meanwhile, we have also analyzed other genetic eye diseases usually accompanied with nystagmus based on the conditions provided by this fund. We have published 6 papers in peer-reviewed international journals, in which I am the fist or the corresponding author in 4 papers.

英文关键词： Congenital motor nystagmus; linkage mapping; Novel locus; Exome; Chinese.