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目的研究线粒体基因A4917G多态性改变与中国人群渗出性年龄相关性黄斑变性(AMD)的相关性,寻找中国人群渗出性AMD发病的易感基因。设计病例对照研究。研究对象来自北京同仁医院的渗出性AMD患者158例和健康对照者117例。方法应用聚合酶链反应(PCR)并结合限制性内切酶酶切分析和DNA序列测定方法对线粒体基因A4917G多态性改变进行检测。主要指标线粒体基因A4917G多态性。结果 AMD患者组与对照组比较,两组间年龄(P=0.614)与性别(P=0.427)差异无统计学意义。AMD患者及对照人群线粒体基因4917位点的碱基全部为A,两组中均未见变异型4917G。在本研究人群中线粒体基因A4917G多态性改变与渗出性AMD不存在相关性。结论线粒体基因A4917G多态性在中国人中罕见,与中国人群渗出性AMD发病无明显相关性。
Objective To investigate the association between mitochondrial DNA polymorphism A4917G polymorphism and exudative age-related macular degeneration (AMD) in Chinese population and to find out the susceptibility genes of exudative AMD in Chinese population. Design a case-control study. The study included 158 patients with exudative AMD and 117 healthy controls from Beijing Tongren Hospital. Methods The mitochondrial gene A4917G polymorphism was detected by polymerase chain reaction (PCR) combined with restriction endonuclease digestion and DNA sequencing. The main index mitochondrial gene A4917G polymorphism. Results There was no significant difference in age (P = 0.614) and gender (P = 0.427) between AMD patients and controls. The base of mitochondrial 4917 site in AMD patients and controls was A, and no variant 4917G was found in both groups. There was no association between changes in mitochondrial DNA A4917G polymorphism and exudative AMD in our population. Conclusion The mitochondrial gene A4917G polymorphism is rare in Chinese people and has no significant correlation with the exudative AMD in Chinese population.