VARIATION IN RETINAL DEGENERATION PHENOTYPE INHERITED AT THE PRCD LOCUS
VARIATION IN RETINAL DEGENERATION PHENOTYPE INHERITED AT THE PRCD LOCUS
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DOI：
10.1016/s0014-4835(88)80055-1
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发表时间：
1988-05-01
影响因子：
3.4
通讯作者：
ACLAND, GM
中科院分区：
文献类型：
--
作者：
AGUIRRE, GD;ACLAND, GM
进行性视锥细胞变性是一种遗传性视细胞疾病。遗传异常和相应的生化缺陷都尚未确定。然而，视觉细胞结构、功能和更新的独特异常是疾病表型的特征，并作为prcd基因的标记。这种疾病最初是在小型贵宾犬（MP）中描述的，但在临床上，在其他品种中也发现了广泛相似的视网膜变性。用受prcd影响的MP和视网膜退化的英国（ECS）和美国（ACS）可卡犬进行的杂交实验现在证明，所有后代都受到与MP中的prcd难以区分的视网膜退化的影响。这表明每个品种的基因突变都在同一个（prcd）位点。然而，在纯种pred-affected ECS（prcd-ECS）中，疾病表型在其进展速率和视网膜内疾病的地形分布方面始终不同于prcd-MP。疾病表达的超微结构变化也可在两种表型之间识别。疾病表型的这些差异可能归因于两个品种的不同遗传背景，反映了修饰基因的影响，或可能表明在同一位点的单独的等位基因突变。
Progressive rod-cone degeneration (prcd) is a recessively inherited visual cell disease. Neither the genetic abnormality nor the corresponding biochemical defect have yet been identified. Unique abnormalities of visual cell structure, function and renewal, however, characterize the disease phenotype and act as a marker for the prcd gene. The disease was first described in miniature poodle dogs (MP) but broadly similar retinal degenerations have been recognized, clinically, in other breeds. Crossbreeding experiments with prcd-affected MP and retinal degenerate English (ECS) and American (ACS) cocker spaniels now demonstrate that all the progeny are affected with a retinal degeneration indistinguishable from prcd in the MP. This indicates that the gene mutation in each breed is at the same (prcd) locus. In purebred pred-affected ECS (prcd-ECS), however, the disease phenotype consistently differs from that in prcd-MP in its rate of progression and in the topographical distribution of disease within the retina. Ultrastructural variation in disease expression are also recognizable between the two phenotypes. These differences in disease phenotype may be ascribable to different genetic backgrounds in the two breeds, reflecting the effect of modifying genes, or may indicate separate, allelic, mutations at the same locus.