常染色体显性遗传视网膜色素变性家系的分子遗传学研究

Molecular genetic analysis in a Chinese family of autosomal dominant retinitis pigmentosa

目的对1例4代常染色体显性遗传视网膜色素变性家系进行致病基因定位,并对候选基因进行突变筛查。方法收集1例视网膜色素变性家系,抽取家系成员外周血并提取DNA,用连锁分析法对与疾病相关联的22个已知基因进行定位,并对定位区域内的候选基因进行突变筛查。结果两点连锁分析结果显示,在微卫星标记D7S484处取得最大LOD值为1.51(θ=0.00时);聚合酶链反应直接测序法筛查候选基因RP9,未发现突变。结论该家系可能存在RP9基因大的碱基缺失突变或基因重排,也可能存在1个新的致病基因。

Objective To map the causative gene for a four-generation pedigree with autosomal dominant retinitis pigmentosa（ADRP）and screen the mutation in candidate gene.Methods Blood samples were collected from all numbers of a ADRP family,then genomic DNA was extracted.Genetic linkage analysis was performed on the 22known genes for ADRP with a panel of microsatellite markers.Subsequently,the mutation screening of retinitis pigmentosa 9（RP9）gene was conducted by direct DNA sequencing.Results The maximal two-point LOD score was obtained at D7S484with a value of 1.51（θ=0.00）.However,no mutations were detected in RP9gene.ConclusionThere might be with large deletions or rearrangements in RP9gene,or exist an additional gene which could be responsible for this disease.