| 一个常染色体显性遗传视网膜色素变性家系疾病基因排除性定位分析 |
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| 作者姓名： | Liu Z Deng H Xi XH Xia JH Pan Q Dai HP Yang YJ Deng HX Xia K Zheng D |
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| 作者单位： | 1. 410078,长沙,中南大学中国医学遗传学国家重点实验室
2. 中南大学湘雅二医院眼科 |
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| 基金项目： | 国家自然科学基金资助重大项目 ( 3 98962 0 0 ),国家自然科学基金资助项目 ( 3 9980 0 18),2 0 0 0年高等学校全国优秀博士学位论文作者专项资金资助项目 ( 2 0 0 0 2 4),'
国家 863计划基金资助项目
( 2 0 0 1AA2 2 70 11) |
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| 摘 要： | 目的 确定一个常染色体显性遗传视网膜色素变性(autosomal dominantret initis pigmentosa,ADRP)家系中的疾病基因与3号染色体视紫红质基因的关系。方法 选择一个连续5代发病的ADRP家系,采集到该家系中16个正常个体、18个受累个体的血样。选取3号染色体上的14对用6-FAM、HEX、NED3种荧光染料标记的微卫星标记DNA引物,对该家系进行连锁分析。结果 3号染色体上的14对微卫星NDA标记位点的LOD值均≤-2,证实3号染色体上的14对微卫星标记DNA位点与该家系致病基因不连锁。结论 该家系的致病基因位于其他染色体上。
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| 关 键 词： | 常染色体 显性遗传 视网膜 色素变性 疾病基因 排除性 定位分析 |
| 修稿时间： | 2002年10月28 |
Exclusive gene mapping on retinitis pigmentosa with markers on chromosomes 3 in a Chinese kindred |
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| Liu Z,Deng H,Xi XH,Xia JH,Pan Q,Dai HP,Yang YJ,Deng HX,Xia K,Zheng D.Exclusive gene mapping on retinitis pigmentosa with markers on chromosomes 3 in a Chinese kindred[J].Chinese Journal of Ophthalmology,2003,39(4):206-208. |
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| Authors: | Liu Zheng Deng Hao Xi Xing-hua Xia Jia-hui Pan Qian Dai He-ping Yang Yong-jia Deng Han-xiang Xia Kun Zheng Duo |
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| Institution: | National Laboratory of Medical Genetics of China, Central South University, Changsha, 410078, China. liuzheng19752002@yahoo.com.cn |
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| Abstract: | OBJECTIVE: To study the relationship between the rhodopsin gene on chromosome 3 and autosomal dominant retinitis pigmentosa (ADRP) in a Chinese kindred. METHODS: Sixteen normal persons and 18 RP patients in a ADRP family were recruited. Genome scan method based on fluorescence labeled (using 3 different labels: 6-FAM, HEX, and NED) microsatellite markers with multiplex PCR system was used to identify loci influencing susceptibility to ADRP. Fourteen microsatellites (D3S1297, D3S1263, D3S1266, D3S1289, D3S1300, D3S3681, D3S1271, D3S1292, D3S1569, D3S1279, D3S1614, D3S1262, D3S1580 and D3S1311) on chromosome 3 were used as genetic markers. Linkage analysis (using Genescan3.0, GeneScan Analysis 2.1, Genotyper 2.1 and Designer sofe system) was performed using these markers. RESULTS: The LOD value was
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| Keywords: | Retinitis pigmentosa Microsatellite repeats Linkage genetics Chromosomes human pair 3 |
| 本文献已被 CNKI 维普 万方数据 PubMed 等数据库收录！ |
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