Distribution of apparent heteroplasmies across the control region.
Percentages of heteroplasmy (as alternative variant percentage, from 10 to 90%) are shown in the bar charts for each apparently heteroplasmic variant after OREO processing, and arranged by position along the control region. Positions in amplicons are indicated, using the nomenclature of Fig. 1. The asterisk indicates a site displaying single-base indels - all others are base substitutions. Black horizontal bars underneath positions indicate probable primer sequences, also represented as black boxes on the schematic amplicons in the centre of the Figure. White bars in the bar charts indicate positions outside probable primer regions. a) 47 apparent heteroplasmies detected using the prototype kit; note that only four of these survive following our conservative criteria of taking a 10% threshold, and not calling sites under potential primer positions; b) Six heteroplasmies detected using the CRM Nested kit; note that the variant at position 16,150 lies under a primer site, and that the variant at position 204 lies under a primer-binding site in the prototype, but not in the CRM Nested kit design.