对江浙地区高度近视眼人群进行MYOC基因突变的调查  

MYOC gene mutation in highly myopic people in jiangsu and zhejiang provinces was investigated

作　　者：章立新[1] 洪楠[2] 叶蓓[2] 夏建华[2] 沈晔[2] Zhang Lixin;Hong Nan;Ye Bei;Xia Jianhua;Shen ye(Medical college of quzhou vocational and technical college,quzhou 324,000,China;The first affiliated hospital of zhejiang university school of medicine,hangzhou 310003,China)

机构地区：[1]衢州职业技术学院医学院,浙江衢州324000 [2]浙江大学医学院附属第一医院,浙江杭州310003

出　　处：《当代医药论丛》2020年第5期69-71,共3页

基　　金：浙江省教育厅科研项目(Y201636338);浙江省教育厅2015年度高等学校国内访问工程师校企合作资助项目(项目编号:130)。

摘　　要：目的:调查江浙地区高度近视眼人群MYOC基因突变的情况,为研究和防治近视眼提供参考。方法:选取2015年10月至2016年10月期间在浙江大学医学院附属第一医院住院治疗的74例浙江籍近视眼患者作为研究对象。将这74例患者分为高度近视眼组(n=41)和非高度近视眼组(n=33)。对这两组患者均进行DNA提取、引物合成、聚合酶链式反应(PCR)扩增及MYOC基因测序。然后,比较两组患者各项临床指标及对两组患者MYOC基因突变点及致病性进行检测的结果。结果:高度近视眼组患者的等效球镜度数低于非高度近视眼组患者,其眼轴长度大于非高度近视眼组患者,其眼内压高于非高度近视眼组患者,P<0.05。对两组患者MYOC基因突变点及致病性进行检测的结果显示,高度近视眼组患者MYOC基因的致病性突变率高于非高度近视眼组患者,且其致病性突变发生在1号外显子多于发生在3号外显子。结论:中国江浙地区高度近视眼人群MYOC基因的致病性突变率远高于非高度近视眼人群,且其致病性突变发生在1号外显子多于发生在3号外显子。objective:to investigate MYOC gene mutation in highly myopic people in jiangsu and zhejiang provinces,and provide references for the research and prevention and treatment of myopia.Methods:from October 2015 to October 2016,74 nearsighted patients from zhejiang province who were hospitalized in the first affiliated hospital of zhejiang university medical college were selected as the research objects.The 74 patients were divided into high myopia group(n=41)and non-high myopia group(n=33).DNA extraction,primer synthesis,polymerase chain reaction(PCR)amplification and MYOC gene sequencing were performed in both groups.Then,clinical indicators of the two groups of patients were compared and the results of MYOC gene mutation and pathogenicity detection in the two groups of patients were compared.Results:the degree of the equivalent spherical mirror in the high myopia group was lower than that in the non-high myopia group,the length of the axial axis was greater than that in the non-high myopia group,and the intraocular pressure was higher than that in the non-high myopia group(P<0.05).The results of MYOC gene mutation and pathogenicity detection in the two groups showed that the pathogenicity mutation rate of MYOC gene in patients with high myopia was higher than that in patients with non-high myopia,and the pathogenicity mutation occurred in exon 1 than exon 3.Conclusion:the pathogenicity mutation rate of MYOC gene in highly myopic people in jiangsu and zhejiang provinces is much higher than that in non-highly myopic people,and the pathogenicity mutation occurs in exon 1 more than exon 3.

关 键 词：MYOC基因 高度近视 基因突变 

分 类 号：R276.7[医药卫生—中医五官科学]