Southern Blot for Mitochondrial DNA Rearrangements

Mitochondrial single, large-deletions are the cause of three classical mitochondrial diseases: multisystemic Kearn-Sayre syndrome (KSS), Progressive external ophthalmoplegia (PEO), and Pearson syndrome (PS).

Southern blot analysis of mtDNA reliably detects single large deletions, multiple deletions, or duplications in the mitochondrial genome that contribute to these diseases.  Some features of a deletion/duplication in mitochondrial DNA are indistinguishable from features that are due to mtDNA sequence variants.  To test for such sequence variants, please also order mtDNA whole genome sequencing.