中国人群渗出性年龄相关性黄斑变性与线粒体基因A4917G多态性的相关性分析

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=10．614）与性N（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。

Association of exudative age-related macular degeneration with mitochondrial A4917G polymorphism in a Chinese population

Objective To investigate the association of mitochondrial A4917G polymorphism with exudative age-related macular degeneration （AMD） in a Chinese population. Design Case-control study. Participants One hundred and fifty-eight patients with exudative AMD and 117 control individuals without AMD from Beijing Tongren Hospital. Methods Genomic DNA was extracted from the peripheral blood. Genotyping for mitoehondrial A4917G polymorphism was performed using a method of polymerase chain reaction （PCR） followed by restriction enzyme digestion and direct sequencing. Main Outcome Measures Frequencies of mitochondrial A4917G polymorphism. Results There was no significant difference in age （P=0.614, t test） or gender （P=0.427, X^2 test） between cases and controls. In all cases and control subjects, only the wild 4917A allele was identified. The 4917G variant was not found in any of the study subjects. Mitochondrial 4917A polymorphism was not associated with exudative AMD in the population sample studied. Conclusion Our data suggest that the mitochondrial A4917G polymorphism is rare and not associated with exudative AMD in the studied Chinese population.