Rapid quantification of the heteroplasmy of mutant mitochondrial DNAs in Leber's hereditary optic neuropathy using the Invader technology.

@article{Mashima2004RapidQO,
  title={Rapid quantification of the heteroplasmy of mutant mitochondrial DNAs in Leber's hereditary optic neuropathy using the Invader technology.},
  author={Yukihiko Mashima and M. S. Nagano and Tomoyo Funayama and Qiang Zhang and Tohru Egashira and Jun Kudho and Nobuyoshi Shimizu and Yoshihisa Oguchi},
  journal={Clinical biochemistry},
  year={2004},
  volume={37 4},
  pages={268-76}
}
PURPOSE To quantify the degree of heteroplasmy of a mitochondrial DNA (mtDNA) mutation in Leber's hereditary optic neuropathy (LHON) a biplex Invader assay was applied. METHODS To determine the optimum condition for the Invader assay, mtDNAs were assayed in various amounts of total DNA in 1-4-h incubations at 63 degrees C. To evaluate the suitability of the Invader assay to detect the three mutations, G3460A, G11778A, and T14484C, 10 ng of DNAs from 224 patients with bilateral optic atrophy… CONTINUE READING
11 Citations
0 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 11 extracted citations

Similar Papers

Loading similar papers…