False positive results of mitochondrial DNA depletion/deletion due to single nucleotide substitutions causing appearance of additional PvuII restriction sites.

Abstract excerpt

Human mitochondrial diseases are usually caused by dysfunction of mitochondrial DNA (mtDNA), particularly by point mutations, deletions, or depletions. In commonly used procedures for molecular diagnostics of mitochondrial dysfunction, one of the first steps is linearization of circular mitochondrial genomes with either BamHI or PvuII restriction endonulease, which cuts human mtDNA at a unique site. Here, we...

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