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 rarr;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 rarr;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)
Citation： Yu Jian,Wu Lezheng,Xu Lin.. The analysis of mitochondrial DNA point mutation at position 3243 in age-related macular degeneration. Chinese Journal of Ocular Fundus Diseases, 2000, 16(4): 231-232. doi: Copy