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Figure 1. Capillary electrophoresis of the 16184-16193 poly-C
tract (A) and the 514 CAn repeat (B). Heteroplasmy (A2, A3, A4, B3): in
addition to the main alleles all the fragments showed an additional peak
known as DNA polymerase slippage product or stutter band. This peak
would have a height <10% relative to the main peak
(85 ). To confirm the accuracy of the capillary electrophoresis
we confirmed the homoplasmy/heteroplasmy of PCR fragments by Sanger
sequencing (see supplementary figures).
Figure 2. Frequencies of the poly-C lenght heteroplasmy and
16223 T patients in four age groups. Frequency of poly-C heteroplasmy
and 16223 T were higher in the youngest (<50 years) group.