Sullivan L J, Makris G S, Dickinson P, Mulhall L E, Forrest S, Cotton R G, Loughnan M S
Department of Ophthalmology, University of Melbourne, Australia.
Arch Ophthalmol. 1993 Nov;111(11):1512-7. doi: 10.1001/archopht.1993.01090110078029.
To ascertain and characterize rhodopsin gene mutations in autosomal dominant retinitis pigmentosa and to correlate these mutations with the clinical phenotypes.
DNA was extracted from leukocytes, and the rhodopsin gene was amplified and analyzed using molecular-biological methods. Clinical and electrophysiological data were collected from patient charts.
We found a disease-causing mutation that was previously undescribed, to our knowledge, for autosomal dominant retinitis pigmentosa within codon 15 of exon 1 of the rhodopsin gene. It was a single base-pair transversion (AAT to AGT) leading to a serine-for-asparagine substitution. This altered a glycosylation site in the intradiscal portion of the rhodopsin molecule. The pedigree examined demonstrated an inferior distribution of retinal pigmentary changes and predominantly superior visual field loss with relative preservation of electroretinographic amplitudes and good vision, which is consistent with sectorial or sectorial-like retinitis pigmentosa.
A codon 15 rhodopsin gene mutation caused retinitis pigmentosa in the pedigree studied. There may be an association between intradiscal rhodopsin gene mutations and sectorial forms of retinitis pigmentosa.
确定并描述常染色体显性遗传性视网膜色素变性患者中视紫红质基因突变情况，并将这些突变与临床表型相关联。
从白细胞中提取DNA，采用分子生物学方法对视紫红质基因进行扩增和分析。从患者病历中收集临床和电生理数据。
我们在视紫红质基因第1外显子的第15密码子中发现了一个据我们所知先前未被描述的常染色体显性遗传性视网膜色素变性致病突变。这是一个单碱基对颠换（AAT变为AGT），导致天冬酰胺被丝氨酸取代。这改变了视紫红质分子盘内部分的一个糖基化位点。所检查的家系显示视网膜色素改变呈下方分布，视野缺损主要在上方，视网膜电图振幅相对保留且视力良好，这与扇形或类似扇形的视网膜色素变性相符。
在所研究的家系中，第15密码子视紫红质基因突变导致了视网膜色素变性。视紫红质基因盘内突变与扇形视网膜色素变性之间可能存在关联。
