视网膜色素变性显性遗传家系3号染色体连锁分析  

Linkage analysis of chromosome 3 in three Chinese families with autosomal dominant retinitis pigmentosa

作　　者：李宁东[1] 赵堪兴[1] 李杨[2] 陆莎莎[1] 赵晨[1] 陆薇英[1] 

机构地区：[1]天津医科大学,天津300040 [2]北京同仁眼科中心

出　　处：《眼科》2004年第6期342-345,共4页Ophthalmology in China

基　　金：国家自然科学基金资助 (30 0 70 80 5 )

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 ,RHO)基因上下约 5厘摩 (centimorgancM )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 (LODSCORE)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D3S36 0 6间LOD值为 2 5 2。结论 :RHO基因为CY、WN家系的非候选基因 ,RHO基因可能是家系ZH致病基因。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.

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 

分 类 号：R774.1[医药卫生—眼科]