目的 对一常染色体显性遗传原发性开角型青光眼(POAG)家系患者进行临床特点的观察,并对致病基因MYOC/TIGR、OPTN、WDR36进行基因突变筛查.方法 收集一常染色体显性遗传的POAG家系,其中8例患者,27例非患者.对该家系POAG患者进行视力、眼压、裂隙灯、前房角镜、眼底、部分行视野和光学相干断层成像(OCT)检查.抽取患者、家族成员及正常对照者外周静脉血,提取基因组DNA.应用聚合酶链式反应(PCR)方法扩增候选基因MYOC/TIGR、OPTN、WDR36的外显子及两侧翼部分内含子.将扩增出的PCR产物纯化后行双向测序以筛选突变位点.结果 此POAG家系患者发病年龄均在24岁左右,患者进行性视神经萎缩、视野缺损,多数患者有二次手术史,眼压控制不佳,预后较差.PCR产物直接测序结果均未发现MYOC/TIGR、OPTN、WDR36基因的突变.结论 通过对患者致病基因筛查,排除了该POAG家系是由MYOC、OPTN、WDR36基因突变引起,可能由其他相关致病基因突变所致.%Objective To investigate the clinical features and mutations of disease-causative genes with MYOC,OPTN and WDR36 in a Chinese family pedigree with open angle glaucoma(POAG). Methods A POAG family that total 35 members were recruited,8 were affected. The POAG patients were underwent opthalmic examination,including visual acuity, intraocular tension, slit-lamp, gonioscope microgonioscope, direct funduscopy, some patients also underwent humphrey threshold perimetry and optical coherence tomographic (OCT). G enomic DNA was extracted from the peripheral blood of patients, relatives and normal controls. The coding sequence of MYOC, OPTN and WDR36 genes were amplified by polymerase chain reaction(PCR). All PCR products were sequenced to screen for mutation sites. Results The onset age of POAG patients was about 24 years old, the POAG patients suffered aggravating optic atrophy and visual field defect, some of them with poorly controlled intraocular pressure had secondary operations. No mutation sites were observed in this family pedigree, and there were no mutations presented in unaffacted relatives and normal controls. Conclusion The mutations screening of disease-causative genes with patients,which exclude from the MYOC, OPTN, WDR36 gene,it may be caused by other pathogenic genes.
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