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| 先天性眼外肌纤维化一家系致病基因的连锁分析 | |
| 引用本文： | 布娟,董佳梅,沈勤,杜伟,李静,庞红蕾,林淑芳,王乐今.先天性眼外肌纤维化一家系致病基因的连锁分析[J].眼科新进展,2011,31(8):705-707. |
| 作者姓名： | 布娟 董佳梅 沈勤 杜伟 李静 庞红蕾 林淑芳 王乐今 |
| 作者单位： | 1. 北京大学第三医院眼科,北京市,100191 2. 北京大学第三医院中央党校院区,北京市,100191 3. 上海交通大学附属第九人民医院眼科,上海市,200011 |
| 基金项目： | 国家自然科学基金资助(编号:30950007)~~ |
| 摘 要： | 目的分析一个中国人先天性眼外肌纤维化(congenital fibrosis of extraocularmuscles,CFEOM)家系的临床表型,并通过基因连锁分析的方法对该家系的致病基因进行定位研究。方法收集一个CFEOM家系,对家系所有成员进行详细的临床检查。确定其临床表型及遗传方式后,在位于11号染色体的已知CFEOM基因附近选取微卫星标记物进行连锁分析。运用MILINK软件计算最大优势对数LOD值。结果该家系的遗传方式为常染色体隐性遗传,家系中的5例患者均表现为典型的眼外肌纤维化特征。与该家系连锁的染色体微卫星标记物为D11S4151和D11S1320,其最大的LOD值为1.21。结论此家系为常染色体隐性遗传型CFEOM2型,其致病基因位于11号染色体的D11S4151和D11S1320之间,位于该区间内的已知基因PHOX2A/ARIX的突变可能是导致该家系致病的分子基础。 |
| 关 键 词： | 先天性眼外肌纤维化 常染色体隐性遗传 连锁分析 |
Linkage analysis for all known locus linked with congenital fibrosis of extraocular muscles in a Chinese family |
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| BU Juan,DONG Jia-Mei,SHEN Qin,DU Wei,LI Jing,PANG Hong-Lei,LIN Shu-Fang,WANG Le-Jin.Linkage analysis for all known locus linked with congenital fibrosis of extraocular muscles in a Chinese family[J].Recent Advances in Ophthalmology,2011,31(8):705-707. | |
| Authors: | BU Juan DONG Jia-Mei SHEN Qin DU Wei LI Jing PANG Hong-Lei LIN Shu-Fang WANG Le-Jin |
| Institution: | Department of Ophthalmology,Peking University the Third Hospital(BU Juan,DU Wei,LI Jing,PANG Hong-Lei,LIN Shu-Fang,WANG Le-Jin),Beijing 100191,China,Zhongyang Dangxiao Hospital of Peking University the Third Hospital(DONG Jia-Mei),Shanghai Jiaotong University the Ninth Hospital(SHEN Qin),Shanghai 200011 |
| Abstract: | Objective To describe the clinical phenotype in a Chinese family with congenital fibrosis of extraocular muscles(CFEOM) and determine the candidate gene using linkage analysis.Methods The detailed clinical ophthalmic examination was performed for all patients with CFEOM in a Chinese family.The genomic DNA of all family members was extracted from peripheral blood leukocytes.The family was tested for linkage analysis to known autosomal recessively CFEOM loci on chromosome 11q13(CFEOM2).The microsatellite mark... |
| Keywords: | congenital fibrosis of extraocular muscles autosomal recessive inheritance linkage analysis |
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