碳酸酐酶Ⅱ基因多态性与原发性开角型青光眼遗传易感性的关系  

Relationship of carbonic anhydrase II gene polymorphism with primary open angle glaucoma genetic susceptibility

作　　者：吴安黛 叶锌铭[1] 高和香[1] 李俊[1] 赵晨[2] 

机构地区：[1]中国浙江省丽水市人民医院眼科,323000 [2]南京医科大学第一附属医院眼科,中国江苏省南京市210029

出　　处：《国际眼科杂志》2016年第2期234-236,共3页International Eye Science

基　　金：国家自然科学基金(No.81222009)~~

摘　　要：目的:分析碳酸酐酶Ⅱ基因多态性与原发性开角型青光眼遗传易感性的关系。方法:选取2012-01/2014-12在丽水市人民医院进行诊治的原发性开角型青光眼患者(观察组)50例与在丽水市人民医院门诊部体检的健康人(对照组)50例进行试验观察,常规肘静脉取血,使用聚合酶链反应和限制性片段长度多态性技术测试碳酸酐酶Ⅱ基因多态性的特点。结果:两组患者在和rs10504813位点rs3758078位点的分布符合哈迪-温伯格平衡定律(Hardy-Weinberg equilibrium),且试验结果显示在rs10504813位点中,两组的基因型频率的差异无统计学意义(P>0.05),但在等位基因频率分布之间的差异具有统计学意义(P<0.05);两组在rs3758078位点的基因型频率以及等位基因频率的差异无统计学意义(P>0.05)。两组患者在碳酸酐酶Ⅱ基因多态性进行单倍型分析发现,TAC单倍型携带者出现原发性开角型青光眼的风险较小。结论:碳酸酐酶Ⅱ基因多态性与原发性开角型青光眼的患病风险存在一定的关联,rs3758078位点基因平衡可能是患病风险低的主要原因;TAC单倍型携带者出现原发性开角型青光眼的风险较小。AIM：To analyze the relationship of carbonic anhydrase I gene polymorphism with primary open angle glaucoma genetic susceptibility.METHODS：From January 2012 to December 2014,50 cases in our hospital for treatment of primary open angle glaucoma（study group） and 50 cases in outpatient department of our hospital for health examination（control group） were tested.The conventional elbow venous blood was taken.The use of polymerase chain reaction（PCR） and restriction fragment length polymorphism test were used to detect the characteristics of carbonic anhydrase I gene polymorphism.RESULTS：The locus site of rs3758078 and rs10504813 of the two groups were in line with Hardy- Weinberg equilibrium law（Hardy- Weinberg equilibrium）.The results displayed in rs10504813 site,the difference of genotype frequencies between the two groups was not statistically significant（P〉0.05）.But the difference in allele frequencies between the two groups was statistical significance（P〈0.05）.The differences of locus genotype and allele frequencies between the two groups in rs3758078 had no statistical significance（P〉0.05）.After the carbonic anhydrase I polymorphism haplotype analysis in the two groups,TAC（Tracking area code of cell served by neighbor Enb） haplotype carriers appeared lawer risk of primary open-angle glaucoma.CONCLUSION：There is certain relation between the polymorphism and the risk of carbonic anhydrase primary open-angle glaucoma,and rs3758078 locus balance may be the main reason for low risk;TAC haplotype carriers appear lower risk of primary open angle glaucoma.

关 键 词：碳酸酐酶Ⅱ基因多态性 原发性开角型青光眼 遗传易感性 

分 类 号：R775.2[医药卫生—眼科]