原发性开角型青光眼一家系MYOC基因突变

发布时间：2018-05-28 22:38

本文选题：原发性开角型青光眼 + MYOC基因　；参考：《福建医科大学》2011年硕士论文

【摘要】：目的研究福建省一个大型原发性开角型青光眼(POAG)家系的小梁网糖皮质激素诱导反应蛋白基因(MYOC)突变以及该基因突变与表现型之间的关系。对象与方法收集到一个包括5代共144人的POAG家系,其中17人被确诊为POAG,1人因大杯盘比被诊断为可疑患者,其余126人无症状。共采集到12份血样,其中3人为POAG患者,1人为可疑患者,其余8人为正常人。3位患者均已行手术治疗,目前眼压控制不理想。方法:(1)抽取12位POAG患者和正常家系成员的外周血3ml。(2)使用Wizard Genomic DNA Purification试剂盒从12位家系成员外周静脉血中提取和纯化基因组DNA。(3)参照文献所报道的引物序列设计3对特异性引物。(4)对12位家系成员基因组DNA使用聚合酶链反应(PCR)技术分段扩增MYOC基因的3个编码外显子区域,然后将PCR产物纯化并进行正向和反向测序。(5)结合患者临床表现对该家系基因突变与临床表现型之间的关系进行分析。结果(1)在福建省一POAG家系中发现了MYOC基因突变4例,其中3人为POAG患者,1位疑似POAG患者,其余8人为正常人。(2)PCR产物测序发现MYOC基因突变c.G1099A,即Gly367Arg突变,该突变为首次在中国人中发现,导致第367位的甘氨酸突变为精氨酸,从而引起相应蛋白质发生结构与功能改变。结论该家系表现为常染色体显性遗传伴不完全外显。MYOC基因的Gly367Arg突变可能参与了这个大家系的POAG的发病过程,在这个家系中该突变的表型特点是高眼压、大杯盘比和对外科手术治疗不敏感。MYOC基因突变可引起相应蛋白质的结构及功能发生改变,导致POAG的发生。
[Abstract]:Objective to study the mutation of meshwork glucocorticoid inducible response protein gene (MYOC) in a large open angle glaucoma (Poag) family in Fujian Province and the relationship between the mutation and phenotype. Participants and methods A POAG pedigree consisting of 5 generations of 144 individuals was collected. 17 of them were diagnosed as POAG1 and 126 were asymptomatic because of the large cup / disc ratio. A total of 12 blood samples were collected, of which 3 were POAG patients, 1 was suspected, and 8 were normal. 3 patients had undergone surgical treatment. At present, IOP control is not satisfactory. Methods 12 POAG patients and normal family members were extracted from peripheral blood of 12 POAG patients and normal family members. 3 pairs of primers were designed by using Wizard Genomic DNA Purification kit to extract and purify genomic DNA from peripheral venous blood of 12 family members. The genomic DNA of 12 family members was amplified by polymerase chain reaction (PCR) technique to amplify three coding exons of MYOC gene. Then the PCR product was purified and sequenced forward and backward. 5) the relationship between gene mutation and clinical phenotype in the family was analyzed in combination with the clinical manifestations of the patients. Results (1) four cases of MYOC gene mutation were found in a POAG pedigree in Fujian Province, of which 3 were POAG patients and 1 suspected POAG patient, and the other 8 were normal controls. The MYOC gene mutation c. G1099A, Gly367Arg mutation, was found by sequencing. This mutation is the first found in Chinese, leading to the 367th glycine mutation to arginine, thus causing the corresponding protein structural and functional changes. Conclusion the Gly367Arg mutation of autosomal dominant inheritance with incomplete extraneous. MYOC gene may be involved in the pathogenesis of POAG in this pedigree. The phenotypic characteristic of this mutation is high intraocular pressure. Large ratio of cup to disc and insensitive to surgical treatment. MYOC gene mutation can cause changes in the structure and function of the corresponding protein, leading to the occurrence of POAG.
【学位授予单位】：福建医科大学
【学位级别】：硕士
【学位授予年份】：2011
【分类号】：R775.2

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