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中国原发性开角型青光眼患者OPTN基因多态性的初步研究

发布时间:2019-03-15 20:19
【摘要】:目的:探讨OPTN基因多态性与中国人群POAG发病的关系。 方法:对100例POAG患者和60例正常人的外周血进行DNA提取,用聚合酶链反应(PCR)扩增OPTN基因的13对编码外显子后,对PCR产物进行直接测序,,并将测序结果与OPTN的原始序列(GeneBank)进行对比分析。 结果:本研究中我们共发现5个曾经被报道过的OPTN的基因序列改变,这5个序列改变包括一个同义序列改变T34T、三个错义序列改变M98K、H486R、R545Q和一个移码序列改变691-692insAG。除此之外,我们没有发现新的基因序列改变。在本研究发现的5个基因序列改变中,其中,同义序列改变T34T的基因型及等位基因频率在POAG患者组和正常对照组之间的差异均有统计学意义(χ~2=20.416, χ~2=19.464,P=0.000)。序列改变M98K、R545Q则平均分布于两组之间,基因型和等位基因频率在两组之间的差异无统计学(P0.05)。H486R和691-692insAG序列改变则仅在一名POAG患者中发现。 结论:没有足够证据说明OPTN基因多态性与中国人群POAG发病相关联, T34T同义改变可能增加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.
【学位授予单位】:暨南大学
【学位级别】:硕士
【学位授予年份】:2012
【分类号】:R775

【参考文献】

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