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| 常染色体显性遗传性白内障一家系致病基因的研究 | |
| 引用本文： | 肖伟,赵岱新,梁小芳,石磊,华芮.常染色体显性遗传性白内障一家系致病基因的研究[J].国际眼科杂志,2011,11(4):584-587. |
| 作者姓名： | 肖伟 赵岱新 梁小芳 石磊 华芮 |
| 作者单位： | 1. 中国医科大学附属盛京医院眼科,中国辽宁省沈阳市,110003 2. 中国医科大学基础医学院人类基因组教研室,中国辽宁省沈阳市,110001 3. 中国医学科学院基础医学研究所,中国北京市,100730 |
| 基金项目： | 中国国家自然科学基金，中国辽宁省科技厅科学计划基金 |
| 摘 要： | 目的:对一个4代常染色体显性遗传先天性白内障家系进行致病基因研究。方法:对15例家系成员(8例患者,7例非患者)进行眼部检查,采集静脉血,提取基因组DNA,选取已报道的与常染色体显性遗传性白内障相关的19个位点附近的微卫星标记,PCR扩增后进行基因型分析,用连锁分析进行定位;对提示连锁的标记计算Lod值,并构建单体型;对定位区域内已知候选基因测序。结果:该家系患者表型为绕核性白内障;患者在17q11-12有共享基因型,该位点微卫星标记与致病基因间的两点连锁最大Lod值为2.71,证实该位点与该家系的致病基因连锁;测序未发现CRYBA1/BA3突变。结论:该家系的致病突变不是由于CRYBA1/A3外显子和调控区突变,可能是未被发现基因突变或机制参与该家系的发病。 |
| 关 键 词： | 绕核性白内障 常染色体显性遗传 连锁分析 微卫星标记 |
Pathogenic gene research in a family with autosomal dominant congenital cataract |
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| Wei Xiao,Dai-Xin Zhao,Xiao-Fang Liang,Lei Shi and Rui Hua.Pathogenic gene research in a family with autosomal dominant congenital cataract[J].International Journal of Ophthalmology,2011,11(4):584-587. | |
| Authors: | Wei Xiao Dai-Xin Zhao Xiao-Fang Liang Lei Shi and Rui Hua |
| Institution: | Wei Xiao1,Dai-Xin Zhao1,Xiao-Fang Liang1,Lei Shi2,Rui Hua3 1Department of Ophthalmology,the Affiliated Shengjing Hospital of China Medical University,Shenyang 110003,Liaoning Province,China,2Teaching and Research Section of Human Genome,College of Basic Medical Sciences of China Medical University,Shenyang 110001,3Institute of Basic Medical Sciences of Chinese Academy of Medical Sciences,Beijing 100730 |
| Abstract: | AIM:To detect the pathogenic gene in a four-generation family with autosomal dominant congenital cataract.METHODS:Fifteen members of the family(including eight affected and seven unaffected individuals)were enrolled into the study.The fifteen individuals underwent full ophthalmological and clinical examinations to rule out any concomitant disorders.Blood samples were collected from all the 15 subjects for genomic DNA preparation.Microsatellite markers which were near the reported loci to be associated with ... |
| Keywords: | perinuclear cataract autosomal dominant linkage analysis microsatellite marker |
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