| 视网膜色素变性显性遗传家系3号染色体连锁分析 |
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| 引用本文： | 李宁东,赵堪兴,李杨,陆莎莎,赵晨,陆薇英.视网膜色素变性显性遗传家系3号染色体连锁分析[J].眼科,2004,13(6):342-345. |
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| 作者姓名： | 李宁东 赵堪兴 李杨 陆莎莎 赵晨 陆薇英 |
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| 作者单位： | 1. 天津医科大学,天津,300040
2. 北京同仁眼科中心 |
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| 基金项目： | 国家自然科学基金资助 (30 0 70 80 5 ) |
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| 摘 要： | 目的：用连锁分析法对三个显性视网膜色素变性家系(CY、WN、ZH)3号染色体进行分析，确定致病基因。方法：随机选取3号染色体视紫红质(rhodopsin，RH0)基因上下约5厘摩(centimorgan cM)范围内的6对微卫星标记(marker)，确立单倍体型，用两点法计算最大优势对数(LOD SCORE)值。结果：所选微卫星标记与CY、WN家系表型间LOD值呈负相关关系，而ZH家系与位点D3S3606间LOD值为2．52。结论：RH0基因为CY、WN家系的非候选基因，RHO基因可能是家系ZF致病基因。
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| 关 键 词： | 视网膜色素变性 常染色体显性遗传 连锁分析 染色体 |
| 文章编号： | 1004-4469(2004)06-0342-04 |
Linkage analysis of chromosome 3 in three Chinese families with autosomal dominant retinitis pigmentosa |
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| LI Ning-dong.Linkage analysis of chromosome 3 in three Chinese families with autosomal dominant retinitis pigmentosa[J].Ophthalmology in China,2004,13(6):342-345. |
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| Authors: | LI Ning-dong |
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| Abstract: | Objective:Genetic mapping of RHO gene on chromosome 3q in three Chinese families with autosomal dominant retinitis pigmentosa.Method:Six microsatellite markers were selected from the region of approximately 5 centimorgans(cM) harboring RHO.Haplotype was determined with 6% acrylamide denaturing gels electrophoresis.Two-point linkage analysis was performed using MLINK.Results:The maximum of LOD Score was 2.52(D3S3606 vs adRP) in one of three families,and the LOD Score of each marker vs adRP in the other two pedigrees are negtive.Conclusion:RHO gene may be the candidate gene in the family linked to the locus of chromosome 3q. |
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| Keywords: | retinitis pigmentosa autosomal dominant linkage analysis chromosome |
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