DETECTION OF MITOCHONDRIAL-DNA DELETIONS BY A SCREENING-PROCEDURE USING THE POLYMERASE CHAIN-REACTION

We describe an accurate procedure for a rapid diagnosis of heteroplasm ic mtDNA deletions based on the polymerase chain reaction (PCR). For a selective amplification of deleted mtDNA across the breakpoints of th e deletion, we used seven combinations of primers surrounding the most common deleted region between the two origins of mtDNA replication. T his procedure was performed on muscle biopsies of twenty patients harb oring a single mtDNA deletion and one patient with multiple mtDNA dele tions. The results were compared with Southern-blotting analysis. We c onclude that this PCR procedure is a sensitive and convenient screenin g method for the detection of mtDNA deletions.