【摘要】：目的：探討OPTN基因多態(tài)性與中國(guó)人群POAG發(fā)病的關(guān)系。 方法：對(duì)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(duì)編碼外顯子后，對(duì)PCR產(chǎn)物進(jìn)行直接測(cè)序，，并將測(cè)序結(jié)果與OPTN的原始序列（GeneBank）進(jìn)行對(duì)比分析。 結(jié)果：本研究中我們共發(fā)現(xiàn)5個(gè)曾經(jīng)被報(bào)道過(guò)的OPTN的基因序列改變，這5個(gè)序列改變包括一個(gè)同義序列改變T34T、三個(gè)錯(cuò)義序列改變M98K、H486R、R545Q和一個(gè)移碼序列改變691-692insAG。除此之外，我們沒(méi)有發(fā)現(xiàn)新的基因序列改變。在本研究發(fā)現(xiàn)的5個(gè)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(duì)照組之間的差異均有統(tǒng)計(jì)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(wú)統(tǒng)計(jì)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(méi)有足夠證據(jù)說(shuō)明OPTN基因多態(tài)性與中國(guó)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(jí)別】：碩士
【學(xué)位授予年份】：2012
【分類(lèi)號(hào)】：R775

【參考文獻(xiàn)】

相關(guān)期刊論文 前6條

1 周和政,沈政偉,金中秋,王柏川,鄢俊杰;辯證地認(rèn)識(shí)眼壓在青光眼診斷中的地位[J];美中國(guó)際眼科雜志;2002年02期

2 葛堅(jiān);青光眼防治工作中面臨的問(wèn)題與挑戰(zhàn)[J];中華眼科雜志;2002年06期

3 徐亮,陳建華,李建軍,楊樺,張蓉秀,孫秀英,鄭遠(yuǎn)遠(yuǎn),宋維賢,施玉英,張士元,孫葆忱,趙家良 ,馬斌榮 ,羅靈;北京農(nóng)村及城市特定人群原發(fā)性開(kāi)角型青光眼的患病率調(diào)查及其篩查方法評(píng)價(jià)[J];中華眼科雜志;2004年11期

4 葛堅(jiān);我國(guó)近五年青光眼臨床與基礎(chǔ)研究進(jìn)展[J];中華眼科雜志;2005年08期

5 宋爽,陳曉明,林楠;青光眼住院病人流行病學(xué)調(diào)查——疾病構(gòu)成及其變化特點(diǎn)[J];中國(guó)實(shí)用眼科雜志;2003年12期

6 林明楷,葛堅(jiān),陳慧怡,余克明;青光眼住院病人的構(gòu)成及變化[J];中國(guó)實(shí)用眼科雜志;2003年12期

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