| Stargardt病光感受器特异性ATP结合转运子基因突变 |
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| 引用本文： | 乐美华,吴乐正,陈又昭,郭向明,文峰. Stargardt病光感受器特异性ATP结合转运子基因突变[J]. 中华眼底病杂志, 2000, 16(4): 240-243 |
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| 作者姓名： | 乐美华 吴乐正 陈又昭 郭向明 文峰 |
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| 作者单位： | 中山医科大学中山眼科中心,510060,广州 |
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| 摘 要： | 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。(中华眼底病杂志,2000,16:240-243)
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| 关 键 词： | 黄斑变性 ABCR转运子 光感受器 Stargardt病 |
| 收稿时间： | 1999-07-14 |
| 修稿时间： | 2007-02-07 |
Stargardt's disease and mutations of ABCR gene |
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| Le Meihua,Wu Lezheng,Chen Youzhao,et al.. Stargardt's disease and mutations of ABCR gene[J]. Chinese Journal of Ocular Fundus Diseases, 2000, 16(4): 240-243 |
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| Authors: | Le Meihua Wu Lezheng Chen Youzhao et al. |
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| Affiliation: | Zhongshan Ophthalmic Center, Sun Yat sen University of Medical Sciences,Guangzhou, 510060, China |
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| Abstract: | 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. |
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| Keywords: | Macular degeneration/genetics Mutation ABCR transporters |
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