中国人一个显性视网膜色素变性家系8号染色体连锁分析  

Linkage analysis of 8chromosome in a Chinese family with autosomal dominant retinitis pigmentosa

作　　者：李宁东[1] 李扬[2] 赵堪兴[1] 陈薇英[1] 陆莎莎[1] 王立[1] 王黎明[1] 单晓艳[1] 

机构地区：[1]天津医科大学,300040 [2]北京同仁眼科中心,100730

出　　处：《眼科研究》2004年第1期92-94,共3页Chinese Ophthalmic Research

基　　金：国家自然科学基金资助(39825510)

摘　　要：目的用连锁分析法对中国人一个显性视网膜色素变性家系8号染色体进行分析,确定致病基因。方法随机选取8号染色体RP1基因上下约10厘摩(cm)范围内的10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(LODSCORE)值。结果所选微卫星标记与该家系表型间最大LOD值小于1。结论RP1基因可能为该家系的非致病性基因,用连锁分析法进行致病基因排除对最终确立致病基因所在染色体的范围具有重要的价值。Objective To map RP1gene on chromosome 8in a Ch in ese family with autosomal dominant retinitis pigmentosa.Methods Ten microsate llite markers were selected from the region of approximately10centimorgans (c m)harboring RP1Haplotype was determined by6%polyacrylamide denaturing gels e lectrophoresis.Two-point linkage analysis was performed using MLINK.Results The Lod Score of each marker vs adRP are below1.Conclusion The phenotype of th is family is not caused by mutation of RP1gene

关 键 词：视网膜色素变性 染色体 连锁分析 显性遗传 

分 类 号：R774.1[医药卫生—眼科]