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Figure 5 | BMC Genetics

Figure 5

From: Genotyping human ancient mtDNA control and coding region polymorphisms with a multiplexed Single-Base-Extension assay: the singular maternal history of the Tyrolean Iceman

Figure 5

a/b Graphical representation of the sequences obtained for the Iceman from Handt et al. 1994. (a) Cloned HVS1 control region sequences from [14] (the nucleotide positions are listed in the top row, whilst the first column refers to the number of each clone). There are two clearly identifiable European mtDNA haplotypes belonging to hg K (16093C-16224C-16311C, clones 1–11 and potentially 19–43), and hg J (16069T-16126C-16390A, clones 12–16). The absence of both 16093C and 16126C from the shortest (100 bp) amplification product (clones 44–55) indicates the presence of at least three populations of templates. Positions of template switching ('jumping PCR') are indicated by brown highlighting, and evident by the replacement of the expected mutation either by the rCRS (no letter), or a polymorphism from a different template. Critically, there are no examples of the 16362C polymorphism in any templates covering this position. (b) Results from the independent replication [37] which were only indirectly sequenced (not cloned), identifying just the two control region transitions basal to hg K (16224C-16311C). This suggests that these results derived from a second hg K contaminant, differing from those of Figure 5a through the lack of the 16093C transition, and from the Tyrolean Iceman by the absence of the key T>C transition at np 16362.

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