本文選題：原發(fā)性開角型青光眼 + MYOC基因��； 參考：《福建醫(yī)科大學(xué)》2011年碩士論文

【摘要】：目的研究福建省一個(gè)大型原發(fā)性開角型青光眼(POAG)家系的小梁網(wǎng)糖皮質(zhì)激素誘導(dǎo)反應(yīng)蛋白基因(MYOC)突變以及該基因突變與表現(xiàn)型之間的關(guān)系。 對(duì)象與方法收集到一個(gè)包括5代共144人的POAG家系,其中17人被確診為POAG,1人因大杯盤比被診斷為可疑患者,其余126人無癥狀。共采集到12份血樣,其中3人為POAG患者,1人為可疑患者,其余8人為正常人。3位患者均已行手術(shù)治療,目前眼壓控制不理想。方法:(1)抽取12位POAG患者和正常家系成員的外周血3ml。(2)使用Wizard Genomic DNA Purification試劑盒從12位家系成員外周靜脈血中提取和純化基因組DNA。(3)參照文獻(xiàn)所報(bào)道的引物序列設(shè)計(jì)3對(duì)特異性引物。(4)對(duì)12位家系成員基因組DNA使用聚合酶鏈反應(yīng)(PCR)技術(shù)分段擴(kuò)增MYOC基因的3個(gè)編碼外顯子區(qū)域,然后將PCR產(chǎn)物純化并進(jìn)行正向和反向測(cè)序。(5)結(jié)合患者臨床表現(xiàn)對(duì)該家系基因突變與臨床表現(xiàn)型之間的關(guān)系進(jìn)行分析。 結(jié)果(1)在福建省一POAG家系中發(fā)現(xiàn)了MYOC基因突變4例,其中3人為POAG患者,1位疑似POAG患者,其余8人為正常人。(2)PCR產(chǎn)物測(cè)序發(fā)現(xiàn)MYOC基因突變c.G1099A,即Gly367Arg突變,該突變?yōu)槭状卧谥袊?guó)人中發(fā)現(xiàn),導(dǎo)致第367位的甘氨酸突變?yōu)榫彼?從而引起相應(yīng)蛋白質(zhì)發(fā)生結(jié)構(gòu)與功能改變。 結(jié)論該家系表現(xiàn)為常染色體顯性遺傳伴不完全外顯。MYOC基因的Gly367Arg突變可能參與了這個(gè)大家系的POAG的發(fā)病過程,在這個(gè)家系中該突變的表型特點(diǎn)是高眼壓、大杯盤比和對(duì)外科手術(shù)治療不敏感。MYOC基因突變可引起相應(yīng)蛋白質(zhì)的結(jié)構(gòu)及功能發(fā)生改變,導(dǎo)致POAG的發(fā)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.
【學(xué)位授予單位】：福建醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2011
【分類號(hào)】：R775.2

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本文編號(hào)：1948453