Quantification of Mitochondrial DNA Carrying the tRNA(8344)^Lys Point Mutation in Myoclonus Epilepsy and Ragged-Red-Fiber Disease

1 January 1993

journal article
Published by Springer Nature in European Journal of Human Genetics

Vol. 1 (1) , 88-95
https://doi.org/10.1159/000472391

Abstract

Myoclonus epilepsy and ragged-red-fiber syndrome (MERRF)is caused by a point mutation at nucleotide 8344 in the tRNA-^Lys gene of mitochondrial DNA. We analyzed leukocyte DNA from nine members of a large MERRF family using a new technique, solid-phase minisequencing. Quantitative analysis of the tRNA(8344)^Lys mutation showed that the mutated mtDNA comprised from 9 to 72% of the total mtDNA in the leukocytes of these individuals. The minisequencing method is a promising tool for the diagnosis of MERRF. In addition to the identification of the tRNA(8344)^Lys mutation, the relative amount of mutated mtDNA can be simultaneously determined in the same assay from one blood sample.

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