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| 常染色体显性先天性白内障大家系致病基因定位的初步研究 | |
| 引用本文： | 夏欣一,崔英霞,金力,谢萍星,张锋,杨滨,张丽京,王理理,薛春燕,李晓军,黄宇烽.常染色体显性先天性白内障大家系致病基因定位的初步研究[J].医学研究生学报,2008,21(10). |
| 作者姓名： | 夏欣一 崔英霞 金力 谢萍星 张锋 杨滨 张丽京 王理理 薛春燕 李晓军 黄宇烽 |
| 作者单位： | 1. 南京大学医学院临床学院(南京军区南京总医院)解放军临床检验医学研究所,江苏南京,210002 2. 复旦大学遗传学研究所,上海,200433 3. 南京军区南京总医院眼科,江苏南京,210002 |
| 基金项目： | 江苏省卫生厅"135工程"重点学科基金 |
| 摘 要： | 目的:报道1个涉及5代17例患者的常染色体显性先天性白内障(ADCC)大家系,并进行致病基因的定位. 方法:对家系中8例患者进行眼科检查后明确临床表型,并提取所有血样的基因组DNA.首先对已报道的中国ADCC家系致病位点(9个基因的16个突变位点)进行DNA测序,然后根据已报道的17个ADCC候选基因和13个染色体区域,选取27个微卫星分子标记,应用LINKAGE软件进行连锁分析. 结果:8例患者均为先天性核性白内障.直接DNA测序未发现有已报道的中国家系基因突变.所选取的27个微卫星分子标记与该家系致病基因均不连锁. 结论:该ADCC家系致病基因不在已报道的17个ADCC候选基因和13个染色体区域,该家系中可能存在一个新的ADCC致病基因. |
| 关 键 词： | 先天性白内障 常染色体显性遗传 连锁分析 |
Gene mapping of a large Chinese family with autosomal dominant congenital cataract |
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| XIA Xin-yi,CUI Ying-xia,JIN Li,XIE Ping-xing,ZHANG Feng,YANG Bin,ZHANG Li-jing,WANG Li-li,XUE Chun-yan,LI Xiao-jun,HUANG Yu-feng.Gene mapping of a large Chinese family with autosomal dominant congenital cataract[J].Bulletin of Medical Postgraduate,2008,21(10). | |
| Authors: | XIA Xin-yi CUI Ying-xia JIN Li XIE Ping-xing ZHANG Feng YANG Bin ZHANG Li-jing WANG Li-li XUE Chun-yan LI Xiao-jun HUANG Yu-feng |
| Affiliation: | XIA Xin-yi1,CUI Ying-xia1,JIN Li2,XIE Ping-xing2,ZHANG Feng2,YANG Bin1,ZHANG Li-jing3,WANG Li-li3,XUE Chun-yan3,LI Xiao-jun1,HUANG Yu-feng1(1.PLA Institute of Clinical Laboratory Medicine,School of Medicine,Nanjing University,Nanjing General Hospital of Nanjing Military Comm,,PLA,Nanjing 210002,Jiangsu,China,2.Institute of Genetics,Fudan University,Shanghai 200433,3.Department of Ophthalmology,China) |
| Abstract: | Objective: To report a large Chinese family in which 17 patients over 5 generations were diagnosed as autosomal dominant congenital cataract(ADCC) and map the related genes.Methods: Ophthalmic examinations were performed to verify the clinical phenotype in 8 patients of the ADCC family and genomic DNA of all blood samples was extracted.Firstly,direct DNA sequencing was carried out on all reported mutation points(16 points of 9 genes) in Chinese ADCC families.Then,27 microsatellite polymorphic markers,near 1... |
| Keywords: | Congenital cataract Autosomal dominant Linkage analysis |
| 本文献已被 CNKI 维普 万方数据 等数据库收录！ | |
