论文部分内容阅读
目的:对国人视网膜色素变性(retinitis pigmentosa RP)患者中视紫红质基因不同突变与临床表型相关性进行初步研究。方法:对经异源双链-SSCP和序列分析确定为视紫红质基因不同位点突变的3例RP患者,收集其详细临床资料,比较其异同。结果:详细描述了3例已知突变患者的临床表现。视紫红质基因不同位点突变,临床表现不尽相同,发生在杆细胞外节胞液侧的突变,常导致严重类型的Ⅰ型视网膜色素变性;而发生在杆细胞外节盘膜内的突变,常引起相对较轻的Ⅱ型视网膜色素变性。结论:本文3例视紫红质基因不同位点突变与临床表型有一定关系,但要建立基因突变与表型间确切的对应关系和规律,尚需积累更多病例资料进一步分析研究。眼科学报1999;15:204-206。
OBJECTIVE: To study the relationship between different mutations of rhodopsin gene and clinical phenotype in Chinese patients with retinitis pigmentosa. Methods: The clinical data of 3 RP patients identified by heteroduplex-SSCP and sequence analysis as different sites of rhodopsin gene mutations were collected and their similarities and differences were compared. Results: The clinical manifestations of 3 patients with known mutations were described in detail. Rhodopsin gene mutations at different sites, clinical manifestations vary, occurred in the extracellular cistern fluid mutations, often lead to severe type Ⅰ retinitis pigmentosa; occurred in the rod cell outer disk membrane mutations , Often cause a relatively mild type II retinitis pigmentosa. CONCLUSION: There are some relations between the mutations of rhodopsin gene and clinical phenotype in the three cases of this article. However, to establish the exact correspondence and law between gene mutation and phenotype, more case data needs to be accumulated for further analysis and study. Journal of Ophthalmology 1999; 15: 204-206.