老年性黄斑变性线粒体DNA3243点突变分析

目的 了解老年性黄斑变性(age-related macular degeneration,AMD )是否存在线粒体DNA (mtDNA)点突变，探讨AMD的发病机制。 方法 26例渗出型 AMD患者，10例萎缩型 AMD患者及 20例阴性对照者，采集外周血抽提DNA，利用聚合酶链反应及限制性片段长度多态性(polymerase chain reaction and restriction fragment long polymorphism,PCR-RFLP)技术，检测 mtDNA 3243位点 A→ G点突变。 结果 26例渗出型 AMD、10例萎缩型 AMD患者外周血细胞mtDNA检测未发现mtDNA 3243位点 A→G点突变。 结论 AMD可能与由母系遗传所致的 mtDNA 3243点突变无关。(中华眼底病杂志,2000,16:231-232)

The analysis of mitochondrial DNA point mutation at position 3243 in age-related macular degeneration

Purpose To detect whether a 3243 point mutation existed in age-related macular degeneration (AMD). MethodsTwenty-six cases of wet form AMD patients, ten cases of dry form AMD patients were selected,and compared with twenty nomal controls. After collecting anti-coagulated blood samples, total cellular DNA were extracted and purified. Using polymerase chain reaction and restriction fragment long polymorphism techniques, the mtDNA A→G point mutation at position 3243 were detected. Results After cleaveded by restriction endonuclease Apa I, a 294 bp fragment remained only in all detected DNA samples including twenty-six wet form AMD, and ten dry form AMD. No any other fragment appeared. The result showed that there was no A→G mutation at position 3243 found in AMD. Conclusion It is suggested that mtDNA 3243 point mutation due to maternal inheritance might be not concerned with both wet form AMD and dry form AMD. (Chin J Ocul Fundus Dis,2000,16:231-232)