视网膜色素变性视紫红质基因突变检测分析  

Detection and analysis of rhodopsin mutation in patients with retinitis pigmentosa

作　　者：熊世红[1] 王艳玲[1] 高立新[1] 黄映湘[1] 刘暄[1] 洪慧[1] 朱萍[1] 

机构地区：[1]首都医科大学附属北京友谊医院眼科,北京市100050

出　　处：《眼科新进展》2008年第8期595-597,共3页Recent Advances in Ophthalmology

摘　　要：目的研究视网膜色素变性患者视紫红质基因突变及其与临床表现的关系。方法应用聚合酶链反应和直接测序技术,对33例视网膜色素变性先证者进行了视紫红质基因整个编码区及内含子外显子拼接区的突变筛选,其中常染色体显性遗传5例、常染色体隐性遗传8例,散发患者20例;同时应用裂隙灯、眼底镜、动静态视野计和视网膜电流图对患者进行临床检测。随机收集50例正常人进行对照检测。结果发现1例散发患者有视紫红质基因P347L突变,呈杂合子,密码子347由CCG变成CTG。该患者13岁出现夜盲,46岁时视力和视野损害较重,视网膜电图检查杆体和锥体无反应。眼底显示视盘萎缩,血管变性,视网膜可见大量骨细胞样色素沉着。结论视紫红质基因P347L基因突变患者有较为严重的临床改变;而且P347L突变被认为是该患者的病因。Objective To study the correlation between rhodopsin（RHO） mutation and clinical manifestation in patients with retinitis pigmentosa（RP）. Methods Polymerase chain reaction and direct DNA sequencing were employed to detect point mutations occurring in the complete coding regions and splice sites of RHO gene in 33 probands with RP. Among these patients, there are 5 cases with autosomal domi- nant RP, 8 cases with autosomal recessive RP and 20 sporadic subjects. Fifty normal subjects were collected as control. All subjects were examined clinically by slit-lamp, direct fimduscopy, Goldman kinetic perimetry, Humphery threshold perimetry and electroretinogram. Results Assaying sequence showed that 1 sporadic patient was heterozygous for RHO P347L mutation. The code 347 was changed from CCG to CTG. This patient reported night blindness at thirteen years old;Impairment of visual acuity and loss of visual field was relatively severe, rod and cone electroreti- nogram were not detectable at 46 years old. Funduscope showed optic atrophy, vessel attenuation and a lot of bone spicule-like pigments in retina. Conclusion The patient carrying RHO P347L mutation showed severe clinical characters, and the RHO P347L mutation is responsible for the patient with RP. [ Rec Adv Ophthalmol 2008 ;28 （ 8 ） ： 595-597 ]

关 键 词：视网膜色素变性 视紫红质 基因突变 

分 类 号：R774.1[医药卫生—眼科]