Figure 1.

PCR results for the three extracts of the Iceman's DNA (HB49, HB50, BPE1). The results place the Iceman's mtDNA into a new (undefined) phylogenetic position (K1*) whilst also reporting the transitions at nps 8137 and 16362. Human mtDNA mutations are scored relative to the revised Cambridge Reference Sequence (rCRS) [23,24], so the Tyrolean Iceman's mtDNA is 'ancestral' at the three positions (C497T, G5913A, 498delC) that define K1a, K1b, and K1c. The sites tested in, 1 [14], 2 [15] and 3this study, are shown to compare the phylogenetic discrimination achieved. Critically, the 16362C polymorphism was not reported in the original study [14] and not tested for in [15]. A recent study [25] explored the entire mtDNA genome of the Iceman by singleplex PCR and has reported all of the polymorphisms listed in Table 1.

Endicott et al. BMC Genetics 2009 10:29   doi:10.1186/1471-2156-10-29
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