Open Access Highly Accessed Research article

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

Phillip Endicott1*, Juan J Sanchez2, Irene Pichler3, Paul Brotherton4, Jerome Brooks5, Eduard Egarter-Vigl6, Alan Cooper4 and Peter Pramstaller37

Author Affiliations

1 Museèe de l'Homme, 17 place du Trocadero, 75116 Paris, France

2 Instituto Nacional de Toxicología y Ciencias Forenses, Campus de Ciencas de la Salud,38320 La Laguna, Tenerife, Spain

3 Institute of Genetic Medicine, European Academy of Genetics, 39100 Bolzano-Bozen, Italy

4 Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, OX1 3PT, UK

5 Australian Centre for Ancient DNA, University of Adelaide, Adelaide SA 5005, Australia

6 Department of Pathology, General Regional Hospital, Bolzano-Bozen, Italy

7 Department of Neurology, Lübeck, Germany

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BMC Genetics 2009, 10:29  doi:10.1186/1471-2156-10-29

Published: 19 June 2009

Additional files

Additional file 1:

Cloned HVS1 sequences from the Iceman. HVR1 sequences covering diagnostic SNPs at nps 16311 and 16362, obtained from three extracts of the Iceman's DNA (BPE1, HB49, HB50).

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Open Data

Additional file 2:

qPCR results for the Iceman (extract HB50). The blue diamonds are the various dilutions of the reference standard, and the red ones represent the Iceman extract. This gives the estimated starting copy number per microlitre of extract (~18 k).

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Open Data

Additional file 3:

Table of mtDNA haplotypes. List of mtDNA haplotypes of all results from aDNA extracts an negative controls (NC) with putative European human mtDNA prepared in the ABC isolation facility in Oxford. rCRS means that there were no mutations observed relative to the revised Cambridge Reference Sequence.

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Additional file 4:

Table of Singleplex PCR primers used in this study. The first and fourth columns give the 5' ends of the forward and reverse primers, respectively.

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Additional file 5:

K1 multiplex PCR primers. The fourth and the sixth columns give the 5' ends of the forward and reverse primers, respectively, whilst the second column indicates the position of the site being targeted in the SBE reaction.

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Additional file 6:

K1 multiplex SBE primers. The name of the Single-Base-Extension primer indicates the site being tested and the strand orientation, whilst the last column gives the possible ancestral and derived alleles.

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Additional file 7:

Quantitative PCR primers and synthetic standards. The name of the primer indicates the position immediately 3' of the primer sequence.

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