先天性视网膜劈裂的RS1基因突变型及其与临床表型相关性研究  

Correlation between RS1 gene mutation genotypes and phenotypes in X-linked retinoschisis

作　　者：余洪华[1] 李涛[1] 雷蕾[1] 丁小燕[1] 李加青[1] 胡洁[1] 朱晓波[1] 罗燕[1] 李士清[1] 胡安娣娜[1] 唐仕波[1] 

机构地区：[1]中山大学中山眼科中心眼科学国家重点实验室,广州510060

出　　处：《中华眼底病杂志》2011年第5期409-413,共5页Chinese Journal of Ocular Fundus Diseases

基　　金：国家自然科学基金（30901642）

摘　　要：目的观察先天性视网膜劈裂（XLRS）患者的基因突变型及其与临床表型的相关性。方法33例XLRS患者、26名女性携带者和100名无眼疾的健康正常对照人群纳入研究。33例患者来自8个家系18例；散发病例15例。均为男性，双眼发病。66只眼中，黄斑中心凹微囊样劈裂49只眼，占74．2％；黄斑部层状劈裂43只眼，占65．2％；视网膜周边部劈裂32只眼，占48．5％。视网膜脱离17只眼，占25．8％；合并玻璃体积血9只眼，占13．6％。行视网膜电图（ERG）检查的42只眼均表现为不同程度b波振幅降低。采用聚合酶链反应（PCR）方法，对视网膜劈裂基因（RS1基因）的6个外显子各片段进行扩增后直接DNA测序，明确基因突变位点和突变类型。同时对基因型与临床表型问进行相关性分析。结果DNA测序发现19种不同的RS1基因突变。其中，新发现6种，分别是p．Gly70Cys、P．Trpll2Arg、P．Argl56Trp、P．HisZ07ProfsX56、P．Arg209AlafsX28、P．Cys223Tyr。正常对照人群未检测到基因突变。相关性分析结果显示，基因型与临床表型间无相关性（x2=0．731，3．438，0．820，3．208，1．992；P〉0．05）。结论RS1基因突变是导致XLRS的主要原因；RS1基因突变型与临床表型间无相关性，不能通过基因型来预测疾病的预后。Objective To investigate the correlation between mutation genotypes and phenotypes of X linked retinoschisis （XLRS） patients. Methods 33 male XLRS patients, 26 female carriers and 100 normal subjects were enrolled in this study. All 33 XLRS patients were bilateral, which included 18 patients from 8 families and 15 sporadic patients. Among 66 XLRS eyes, there are microcystisqike foveal splitting in 49 eyes （74.2%）, lamellar maeular splitting in 43 eyes （65.2%）, peripheral splitting in 32 eyes （48.5%）, retinal detachment in 17 eyes （25.8%）, and vitreous hemorrhage in 8 eyes （13.6%）. Electroretinogram was performed on 42 eyes which showed decreased amplitude of b-wave. The 6 exons of RS1 gene were amplified by polymerase chain reaction and then directly sequenced. The correlation analysis was performed between mutation genotypes and phenotypes. Results There were 19 RS1 gene mutations including 6 novel mutations （p. Gly70Cys, p. Trpl12Arg, p. Arg156Trp, p. His207ProfsX56, p. Arg209AlafsX28, p. Cys223Tyr）. There was no correlation between mutation genotypes and phenotypes （x2= 0. 731, 3. 438, 0. 820, 3. 208, 1. 992; P〉0.05）. Conclusions RS1 gene mutation is a major cause of XLRS. The RS1 mutation genotype is not correlated with phenotype, so that the prognosis cannot be predicted by the genotypes.

关 键 词：视网膜劈裂症/先天性 视网膜劈裂症/遗传学 基因 突变 

分 类 号：R774.1[医药卫生—眼科]