国人NDP相关视网膜病变的基因突变频谱和表型谱研究

项目名称： 国人NDP相关视网膜病变的基因突变频谱和表型谱研究

项目编号： No.U1204812

项目类型： 联合基金项目

立项/批准年度： 2013

项目学科： 医学二处

项目作者： 杨会琴

作者单位： 郑州大学

项目金额： 30万元

中文摘要： NDP基因对胚胎期视网膜的细胞分化和血管形成具有重要作用。NDP突变可引起以视网膜血管发育紊乱为共同特征的一组多种表型的X-连锁隐性遗传眼病，统称为NDP相关视网膜病变，是儿童视力损害的重要病因。分子遗传学研究有助于加深对此病分子机制的认识，促进临床诊断和治疗，并为以后的基因治疗奠定基础。目前研究成果主要来自国外，多是小样本研究且仅涉及少数表型；部分表型与NDP基因异常的病因学关系迄今尚证据不足。我们前期在中国Norrie 病患者中发现4种NDP突变，其表型与国外报道有所不同，但是研究病例数较少，且缺乏其它表型NDP 相关视网膜病变的研究。因此，本项目拟利用本院丰富的眼病资源，在250例不同表型的NDP相关视网膜病变患者中检测NDP突变，以期获得中国NDP相关视网膜病变的基因突变频谱和表型谱，分析基因型-表型的相关性，并明确各种表型与NDP基因异常的关系。

中文关键词： NDP；FEVR；突变分析；基因型；表型

英文摘要： NDP-related retinopathies are a group of X-linked recessive inherited eye disease caused by mutation in NDP gene, which include Norrie Disease, X-Linked Familial Exudative Vitreoretinopathy (XL-FEVR), Retinopathy of Prematurity (ROP), Coats Disease, and Persistent Hyperplastic Primary Vitreous (PHPV), with a common characterization of fibrous and vascular changes of the retina leading to varying degrees of visual impairment. NDP play critical roles in the regulation of cell discrimination and vasculature of fetal retina. Up to now more than one hundred NDP mutations have been identified. Most of these mutations were found in Norrie Disease, few in XL-FEVR, still fewer in advanced ROP, Coats Disease and PHPV. It is nearly empty for Chinese in this field, for most of these findings were presented by foreign researchers. The distribution and demonstration of gene mutation may not be the same in different population, and evidence of mutation-involvement is not sufficient for ROP, Coats Disease and PHPV. We previously identified 4 mutations in 5 Chinese families with Norrie Disease and noted that the phenotypes were slightly different. So we plan to screen NDP mutations in 250 Chinese patients with NDP-related retinopathies, to investigate the spectrum of NDP mutation, the genotype-phenotype correlation, as well as t

英文关键词： NDP；FEVR；mutation；genotype；phenoty