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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Time-resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathy.

We have applied time-resolved fluorometry (TRF) to construct a DNA hybridization assay for the diagnosis of Leber hereditary optic neuroretinopathy (LHON). A rapid and reliable detection of the most prevalent mitochondrial DNA (mtDNA) point mutation associated with LHON is demonstrated. In addition, the TRF-method can be used in the quantification of heteroplasmy, a phenomenon commonly present in mtDNA mutations. The assay includes PCR amplification of a fragment encompassing the mutation site followed by hybridization reactions with allele-specific europium (Eu)-labelled oligonucleotide probes. A time-resolved fluorometer is used to measure the bound label. The TRF assay was successfully used to demonstrate the ND4/11778 mutation in patient samples. For quantification of heteroplasmy, synthetic target oligonucleotide mixtures with known ratios of wild-type and mutated sequences were used as standards to control the hybridization step. The assay allowed the detection of heteroplasmy ranging from 5 to 95%. This was also shown in a family with several heteroplasmic members.[1]


  1. Time-resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathy. Huoponen, K., Juvonen, V., Iitiä, A., Dahlen, P., Siitari, H., Aula, P., Nikoskelainen, E., Savontaus, M.L. Hum. Mutat. (1994) [Pubmed]
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