作　　者： (董嫱）; (张华）;

机构地区： 济南市第八人民医院,山东济南250013

出　　处： 《转化医学电子杂志》 2017年第8期20-23,共4页

摘　　要： 目的:对Leber先天性黑矇的临床表现以及遗传学特点予以分析,并对已知的和可能存在的致病基因突变位点进行筛查研究.方法:以56例Leber先天性黑矇患者为研究对象,收集其临床资料.使用多聚酶链式反应技术(PCR)将Lerber先天性黑矇致病相关致病基因视网膜色素上皮基因(RPE65)和卵磷脂视黄醇酰基转移酶基因(LRAT)中的全部外显子与外显子-内含子接会处进行扩增,测序分析致病的突变基因.结果:对56例患者行RPE65基因十四个外显子和LRAT基因三个外显子的检测,发现了7处单核苷酸多态性改变.结论:由于Leber先天性黑曚的临床表现具有多样性,其诊断有赖于症状和眼底表现以及各项辅助检查.本组56例患者可能与RPE65外显子和LRAT外显子突变无关.不同患者均发现同一位点的同样单核苷酸多态性的改变,具有一定的临床价值和基础研究意义,应增加样本量对蛋白功能进一步分析. AIM: To analyze the clinical manifestations and genetic characteristics of Leber's congenital amaurosis( LCA) and investigate the known and potential pathogenic gene mutation sites. METHODS: A total of 56 cases of LCA patients were selected as the objects of study,and their clinical data were analyzed. The retinal pigment epithelium gene 65( RPE65) and the leucovide retinol acyltransferase gene( LRAT) are the members of LCA. All exons and connections between exon and intron of these two genes RPE65 and LRAT were amplified by polymerase chain reaction( PCR),then their sequences were detected and analyzed to explore the related mutant genes. RESULTS:Fourteen exons of RPE65 gene and three exons of LRAT gene were detected in 56 patients,and seven single nucleotide polymorphisms were found. CONCLUSION: Because of the diversified clinical manifestations of LCA,the diagnosis depends on the symptoms,fundus manifestations and the auxiliary examinations.A total of 56 patients with LCA in the study may be irrelevant to exons' mutation of RPE65 and LRAT. However,we found that the same changing site of the single nucleotide polymorphisms were contained in all the 56 patients. This finding provide potential clinical values for the disease of LCA.

关 键 词： 视网膜色素上皮基因 卵磷脂视黄醇酰基转移酶基因 先天性黑曚 突变 基因