| 年龄相关性皮质性白内障波形蛋白基因外显子突变的研究 |
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| 引用本文： | 王慧,徐国旭,徐晶莹,季晓燕,解来青,李帅杰,徐国彤. 年龄相关性皮质性白内障波形蛋白基因外显子突变的研究[J]. 眼科新进展, 2011, 31(4): 335-337 |
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| 作者姓名： | 王慧 徐国旭 徐晶莹 季晓燕 解来青 李帅杰 徐国彤 |
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| 作者单位： | 1. 苏州大学附属第二医院眼科,江苏省苏州市,215004
2. 同济大学医学院再生医学系与眼科研究所,上海市,200092 |
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| 基金项目： | 国家自然科学基金，苏州市社会发展计划基金 |
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| 摘 要： | 目的探讨波形蛋白(vimentin)基因外显子序列突变与年龄相关性皮质性白内障的关系。方法选择年龄相关性皮质性白内障患者110例(病例组)及同一地区正常对照100例(对照组)进行以医院病例资料为基础的对照研究。以外周血基因组DNA为模板,通过PCR扩增vimentin基因全部外显子,并将PCR产物纯化后测序。测序结果与GenBank公布的vimentin基因正常序列比对。结果病例组的血尿酸含量为(344.00±79.91)μmol·L-1较对照组(309.00±72.75)μmol·L-1显著增高(P=0.001),病例组的血肌酐含量为(59.20±13.57)μmol·L-1较对照组(55.24±13.61)μmol·L-1增高(P=0.04);2组测序结果显示vimentin基因全部外显子序列中,并未发现突变。结论年龄相关性皮质性白内障的发病机制与vimentin基因外显子序列突变无关,其致病基因有待进一步试验确定。
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| 关 键 词： | 年龄相关性皮质性白内障 波形蛋白基因 外显子 突变 |
Study on mutation of vimentin gene exons in age-related cortical cataract |
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| WANG Hui,XU Guo-Xu,XU Jing-Ying,JI Xiao-Yan,XIE Lai-Qing,LI Shuai-jie,XU Guo-Tong. Study on mutation of vimentin gene exons in age-related cortical cataract[J]. Recent Advances in Ophthalmology, 2011, 31(4): 335-337 |
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| Authors: | WANG Hui XU Guo-Xu XU Jing-Ying JI Xiao-Yan XIE Lai-Qing LI Shuai-jie XU Guo-Tong |
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| Affiliation: | WANG Hui,XU Guo-Xu,XU Jing-Ying,JI Xiao-Yan,XIE Lai-Qing,LI Shuai-Jie,XU Guo-Tong Department of Ophthalmology,the Second Hospital Affiliated to Soochow University(WANG Hui,LI Shuai-Jie),Suzhou 215004,Jiangsu Province,China,Tongji Eye Institute and Department of Regenerative Medicine,Tongji University School of Medicine(XU Jing-Ying,XU Guo-Tong),Shanghai 200092 |
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| Abstract: | Objective To explore the relationship between mutation of vimentin gene exons and age-related cortical cataract. Methods Hospital-based case control study was taken.Age-related cortical cataract patients(110 cases) as case group and matched controls(100 controls) as control group were recruited in this study.Genomic DNA obtained from peripheral blood was used as template,and vimentin gene exon sequences were amplified by PCR.After being purified,PCR produts were sequenced.The results of sequencing were comp... |
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| Keywords: | age-related cortical cataract vimentin gene exon mutation |
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