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R P9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 reti‐nitis 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 22 known genes for ADRP with a panel of microsatellite markers .Subsequently ,the mutation screening of retinitis pig‐mentosa 9 (RP9) gene was conducted by direct DNA sequencing .Results The maximal two‐point LOD score was obtained at D7S484 with a value of 1 .51 (θ=0 .00) .However ,no mutations were detected in RP9 gene .Conclusion There might be with large deletions or rearrangements in RP9 gene ,or exist an additional gene which could be re‐sponsible for this disease .
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