Stargardt病光感受器特异性ATP结合转运子基因突变

Stargardt's disease and mutations of ABCR gene

目的 探索 Stargardt病的致病基因。 方法 合成光感受器特异性 ATP结合转运子基因(phogoreceptor cell- specific ATP- binding transporter gene,ABCR) 11个外显子的引物 ,并用聚合酶链反应(polymeras chain reaction,PCR)和单链多态分析 (single- strend conformation polymorphism,SSCP)及 DNA直接测序检测 15例 Stargardt病患者。 结果 3例患者有致病突变 ,其中 2例为单碱基置换 ,1例缺失 ,均表现为新突变位点。 结论 ABCR基因是 Stargardt病的致病基因。

Objective To investigate the disease causing gene of Stargardt disease. Method Fifteen patients with Stargardt disease were analyzed with 11 primers of the 11 exons of ABCR gene by using PCR SSCP and DNA direct sequencing techniques. Results Three newly detected disease causing mutations were found. Among those mutations, one is a frameshift mutation and others are single base transition. Conclusion This research confirmed that ABCR gene is associated with Stargardt disease, and 3 new mutations of ABCR gene were found.