视网膜色素变性家系遗传分析及基因诊断  

Genetics analysis and gene diagnosis of Chinese family with autosomal dominant retinitis pigmentosa

作　　者：唐朝晖[1] 王智[2] 王擎[1] 刘木根[1] 

机构地区：[1]华中科技大学分子生物物理教育部重点实验室,湖北武汉430074 [2]华中科技大学协和医院,湖北武汉430022

出　　处：《华中科技大学学报（自然科学版）》2009年第3期126-129,共4页Journal of Huazhong University of Science and Technology(Natural Science Edition)

基　　金：国家自然科学基金资助项目(30771199,30500168);国家重点基础研究发展计划资助项目(2007CB512002);湖北省自然科学基金资助项目(2006ABA079)

摘　　要：通过对一常染色体显性视网膜色素变性(RP)家系的连锁分析,发现致病基因与RP4连锁,进一步对RHO基因的突变检测,发现RHO的Pro347Leu突变是该家系的遗传基础,运用该结果对家系中2个年幼个体进行了基因诊断,和其他RHO突变引起的RP病人相比,该家系具有发病年龄早,部分成员伴发白内障的独特症状.A Chinese family with autosomal dominant retinitis pigmentosa（RP） is excluded all other RP loci except for RP4 by the method of linkage analysis, sequence for entire coding area of RHO revealed that Pro347Leu mutation of RHO is the genetics basis for this RP family. Gene diagnosis of two asymptomatic young members in this family is performed. It is seen that the patients in this study display some unique character of RP symptom, including earlier onset of RP, and combining with cataract. The results are helpful to understand RP clinical heterogeneity caused by RHO mutations, and to early treat those young asymptomatic affected individuals.

关 键 词：视网膜色素变性 连锁分析 突变 表现型 基因诊断 

分 类 号：R394[医药卫生—医学遗传学]