Fig. 1.

(a): PCR products after whole mitochondrial genome amplification. Lane 1: molecular weight standard (23.1, 9.4, 6.6, 4.4, 2.3, 2.0, 0.5 kb), Lane 2: negative control, Lane 3: wild-type sample with a major fragment (16 kb), Lane 4: patient sample with a smaller fragment (9 kb). (b) PCR products after amplification of fragments 1 (lanes 2–5) and 2 (lanes 7–10). Lane 1 and 6: molecular weight standard (10, 8, 6, 5, 4, 3.5, 3, 2.5, 2, 1.5, 1, 0.75, 0.5, 0.25 kb), Lanes 2, 5, 7 and 10: wild-type sample. Lanes 3, 4, 8 and 9: patient samples (blood and mucosal cells, respectively). All other amplicons (fragments 3, 4, 5, 6 and 7) from the patient had normal-sized bands