显性视网膜色素变性家系已知连锁位点的筛查  

Disease gene screening of known loci in a Chinese family with autosomal dominant retinitis pigmentosa

作　　者：刘伟[1] 鲁芳[3] 乔利峰[4] 沙智全 刘小琦[3] 马誓[3] 唐新[2] 常晋霞[3] 杨正林[3] 叶彬[1] 

机构地区：[1]重庆医科大学病原生物学教研室,400016 [2]重庆医科大学病原生物学检验系,400016 [3]四川省人民医院分子遗传中心 [4]四川省人民医院眼科 [5]四川省西昌市德昌县中医院

出　　处：《中华医学遗传学杂志》2009年第1期70-73,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（30671182）

摘　　要：目的用连锁分析法对1个中国人显性视网膜色素变性家系进行已知位点的筛查，寻找其致病基因。方法随机选取已知致病基因上下约5cM（JB）范围内的27对微卫星标记，确立单倍型，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。结论基本排除由已知常染色体显性遗传视网膜色素变性的候选基因导致该家系的病变。Objective To map the disease causing gene in a Chinese family with autosomal dominant retinitis pigmentosa. Methods Twenty-seven micro-satellite markers were randomly selected from the region around the known loci of causative genes, and haplotypes were determined by ABI3100 genetic analyzer. Two-point linkage analysis was performed using MLINK. Results The Lod score of each marker vs adRP was below 1. Conclusion The phenotype of this family may not be caused by mutation of the known disease-causing genes.

关 键 词：视网膜色素变性 常染色体显性 连锁分析 微卫星标记 

分 类 号：R686[医药卫生—骨科学]