Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
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DOI：
10.1126/science.277.5333.1805
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发表时间：
1997-09-19
期刊：
影响因子：
56.9
通讯作者：
Leppert, M
中科院分区：
文献类型：
--
作者：
Allikmets, R;Shroyer, NF;Leppert, M
视网膜相关性黄斑变性（AMD）是老年人中严重中心视力损害的主要原因，并且与环境因素（如吸烟）和遗传因素两者相关。在这里，对167名无关的AMD患者进行了ABCR改变的筛查，ABCR是一种编码视网膜视杆细胞蛋白的基因，在Stargardt病（一种常见的遗传性黄斑营养不良）中有缺陷。在26例患者（16%）的ABCR等位基因中发现了13种不同的AMD相关改变，包括缺失和氨基酸取代。ABCR改变的识别将允许高危个体的症状前检测，并可能导致AMD的早期诊断和预防和治疗的新策略。
Age-related macular degeneration (AMD) is the leading cause of severe central visual impairment among the elderly and is associated both with environmental factors such as smoking and with genetic factors. Here, 167 unrelated AMD patients were screened for alterations in ABCR, a gene that encodes a retinal rod photoreceptor protein and is defective in Stargardt disease, a common hereditary form of macular dystrophy. Thirteen different AMD-associated alterations, both deletions and amino acid substitutions, were found in one allele of ABCR in 26 patients (16%). Identification of ABCR alterations will permit presymptomatic testing of high-risk individuals and may lead to earlier diagnosis of AMD and to new strategies for prevention and therapy.