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目的 探讨常染色体显性遗传视网膜色素变性患者视紫红质基因突变及其与临床表型的关系。方法 应用聚合酶链反应 (polymerasechainreaction ,PCR)和单链构象多态性 (singlestrandconformationpolymorphism ,SSCP)技术 ,对 13个常染色体显性遗传视网膜色素变性家系中的 2 7例成员 ,进行视紫红质基因整个编码区的突变筛选 ,对SSCP检测有变异带的外显子PCR产物进行测序 ;同时应用裂隙灯、眼底镜、动静态视野计和视网膜电流图 (ERG)对患者进行临床检测。随机收集 30例正常人进行对照检测。结果 发现 1个家系患者有视紫红质E34lter突变 ,呈杂合子 ,密码子 341第一个碱基由G变成T。该家系临床表现为青年期出现夜盲 ,视力和视野损害较重 ,ERG检查杆体和锥体无反应或仅有较小的锥体反应。结论 视紫红质基因突变家系的视网膜色素变性病史开始于杆体功能的丢失 ,进而累及锥体系统 ,并最终导致视功能严重丧失。视紫红质E34lter突变被认为是该家系的病因
Objective To investigate the relationship between rhodopsin gene mutation and clinical phenotype in patients with autosomal dominant retinitis pigmentosa. METHODS: Twenty-seven members of 13 autosomal dominant retinitis pigmentosa families were subjected to polymerase chain reaction (PCR) and single-strand conformation polymorphism (SSCP), and the entire rhodopsin gene The mutations in the coding region were screened, and the PCR products of exon with SSCP mutation were sequenced. At the same time, slit lamp, ophthalmoscope, dynamic and static field and retinal electrocardiogram (ERG) were used to detect the patients. Randomly collected 30 cases of normal control test. The results showed that a family of patients with rhodopsin E34lter mutation was heterozygous, codon 341 first base from G to T. The pediatric clinical manifestations of night blindness in adolescence, visual acuity and visual field damage heavier, ERG examination rod body and cone no reaction or only a small cone reaction. CONCLUSIONS: The history of retinitis pigmentosa in pedigrees with rhodopsin mutations begins with the loss of rod function, which in turn involves the pyramidal system and eventually leads to a severe loss of visual function. Rhodopsin E34lter mutation is considered to be the cause of the pedigree