【摘要】：目的：探討OPTN基因多態(tài)性與中國人群POAG發(fā)病的關(guān)系。 方法：對100例POAG患者和60例正常人的外周血進(jìn)行DNA提取，用聚合酶鏈反應(yīng)（PCR）擴(kuò)增OPTN基因的13對編碼外顯子后，對PCR產(chǎn)物進(jìn)行直接測序，，并將測序結(jié)果與OPTN的原始序列（GeneBank）進(jìn)行對比分析。 結(jié)果：本研究中我們共發(fā)現(xiàn)5個曾經(jīng)被報道過的OPTN的基因序列改變，這5個序列改變包括一個同義序列改變T34T、三個錯義序列改變M98K、H486R、R545Q和一個移碼序列改變691-692insAG。除此之外，我們沒有發(fā)現(xiàn)新的基因序列改變。在本研究發(fā)現(xiàn)的5個基因序列改變中，其中，同義序列改變T34T的基因型及等位基因頻率在POAG患者組和正常對照組之間的差異均有統(tǒng)計學(xué)意義（χ~2=20.416, χ~2=19.464，P=0.000）。序列改變M98K、R545Q則平均分布于兩組之間，基因型和等位基因頻率在兩組之間的差異無統(tǒng)計學(xué)（P0.05）。H486R和691-692insAG序列改變則僅在一名POAG患者中發(fā)現(xiàn)。 結(jié)論：沒有足夠證據(jù)說明OPTN基因多態(tài)性與中國人群POAG發(fā)病相關(guān)聯(lián)， T34T同義改變可能增加POAG的易感性。
[Abstract]:Objective: to investigate the relationship between OPTN gene polymorphism and the incidence of POAG in Chinese population. Methods: DNA was extracted from peripheral blood of 100 patients with POAG and 60 normal subjects. After 13 pairs of exons of OPTN gene were amplified by polymerase chain reaction (PCR), the PCR products were sequenced directly. The sequencing results were compared with the original sequence (GeneBank) of OPTN. Results: in this study, we found five previously reported changes in the gene sequence of OPTN, including one synonymous sequence change T34T, three missense sequences M98K, H486R, R545Q and a code shift sequence change 691 ~ 692insAG. In addition, we have not found any new gene sequence changes. Among the 5 gene sequences found in this study, there were significant differences in genotype and allele frequencies of T34T between POAG patients and normal controls (蠂 ~ 2, 20.416, 蠂 ~ 2, 19.464, P < 0.001). The genotype and allele frequencies of T34T were significantly different between the two groups (蠂 ~ 2, 20.416, 蠂 ~ 2, 19.464, P < 0.001). Sequence change M98K, R545Q average distribution between the two groups, genotype and allele frequencies were not statistically different between the two groups (P0.05), H486R and 691-692insAG sequence changes were found in only one POAG patient. Conclusion: there is not enough evidence that OPTN gene polymorphism is associated with the pathogenesis of POAG in Chinese population. T34T synonymous changes may increase the susceptibility to POAG.
【學(xué)位授予單位】：暨南大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2012
【分類號】：R775

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