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Molecular Genetic Analysis of Retinitis Pigmentosa

色素性视网膜炎的分子遗传学分析

基本信息

批准号：
09671782
负责人：
NAKAZAWA Mitsuru
金额：
$ 2.3万
依托单位：
Hirosaki University (1998)Tohoku University (1997)
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (C)
财政年份：
1997
资助国家：
日本
起止时间：
1997 至 1998
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-09671782/
关键词：
retinitis pigmentosa arrestin Oguchi disease

项目摘要

In order to investigate whether a mutation in the arrestin gene causes not only Oguchi disease which is one form of congenital stationary night blindness but also retinitis pigmentosa which is progressive retinal degeneration, we continued mutation screening for arrestin gene and further analyzed the relationship between genotype and phenotype. As a result, we found the same mutation in the arrestin gene (ll47delA) in 3 patients with autosomal recessive retinitis pigmentosa as had been found in patients with Oguchi disease. Of 3 patients, 2 patients showed typical pigmentary retinal degeneration in their fundi and another patient showed central retinitis pigmentosa associated with golden-yellow fundus reflex in the periphery. In electroretinograms, all 3 patients showed decreased a- and b-waves but not completely diminished in standard ERG and also they commonly showed decreased waves but still recordable responses in 30-Hz flicker ERG.In fluorescein angiograms, all 3 patients showed chorioretinal atrophy particularly remarkable along the vascular arcade, indicating that the area along the vascular arcade is the most susceptible portion of degeneration. However, because other 2 patients who showed similar fluorescein angiographic findings had no mutation in the arrestin gene, this finding is not specific for the mutation in the arrestin but rather it is considered that this area of degeneration is corresponded to the highest distribution of rod photoreceptors. Nevertheless, the present study showed that a mutation in the arrestin gene is related to one form of autosomal recessive retinitis pigmentosa for the first time.

为了研究arrestin基因突变是否既导致先天性静止性夜盲症之一的Oguchi病又导致进行性视网膜变性的视网膜色素变性，我们继续进行arrestin基因突变筛查，并进一步分析基因型与表型之间的关系。结果，我们在3例常染色体隐性遗传性视网膜色素变性患者中发现了与Oguchi病患者相同的arrestin基因突变（1147 delA）。3例中2例表现为典型的眼底色素变性，1例表现为中心性视网膜色素变性伴周边金黄色眼底反射。在视网膜电图中，所有3例患者在标准ERG中均显示a-和b-波降低但未完全降低，在30 Hz闪烁ERG中也普遍显示波降低但仍可记录反应。在荧光素血管造影中，所有3例患者均显示脉络膜视网膜萎缩，尤其是沿沿着的萎缩，表明沿血管沿着的区域是最易变性的部分。然而，由于其他2例显示类似荧光素血管造影结果的患者在arrestin基因中没有突变，因此该结果不是arrestin突变的特异性结果，而是认为该变性区域对应于视杆光感受器的最高分布。然而，目前的研究表明，arrestin基因的突变与一种常染色体隐性视网膜色素变性有关。