一原发性开角型青光眼家系的临床特点及致病基因的筛查

发布时间：2018-04-12 22:07

本文选题：青光眼 + 开角型/遗传学　；参考：《安徽医科大学学报》2011年03期

【摘要】：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。
[Abstract]:Objective to observe the clinical characteristics of a pedigree with autosomal dominant primary open-angle glaucoma (POAGG) and to screen the gene mutation of MYOC / TIGRX OPTNN WDR36.Methods A POAG pedigree with autosomal dominant inheritance was collected.Visual acuity, intraocular pressure, slit lamp, anterior chamber angle lens, fundus, partial visual field and optical coherence tomography (Oct) were examined in this family with POAG.Genomic DNA was extracted from peripheral venous blood of patients, family members and normal controls.Polymerase chain reaction (PCR) method was used to amplify the exon of MYOC / TIGR / OPTNTN WDR36 and the flanking flanking intron.The amplified PCR products were purified and bidirectional sequencing was performed to screen mutation sites.Conclusion by screening the pathogenic genes of the patients, it is excluded that the POAG pedigree was caused by the mutation of MYOCU OPTNN WDR36 gene, which may be caused by the mutation of other related pathogenic genes.
【作者单位】：安徽医科大学第一附属医院眼科;教育部"重要遗传病基因资源利用"重点实验室(省部共建);
【分类号】：R775.2

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