Figure 1

Detection of the mtDNA 4,977-bp deletion. (A) Human mitochondrial genome with or without the 4,977-bp deletion; the positions of primers used in nested PCR for detecting this deletion were 1F (8192-8212), 1R (13663-13643), 2F (8261-8281) and 2R (13595-13575). The fragment was too large for wildtype mtDNA (>5 kb) to be amplified with the PCR conditions used for detection. (B) Confirmation of the 4,977 bp deletion. Representative sequencing profile of the PCR products from the patients carrying the deletion.