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

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.