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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">MtDNA diversity of Ghana: a forensic and phylogeographic view</title><author><name sortKey="Fendt, Liane" sort="Fendt, Liane" uniqKey="Fendt L" first="Liane" last="Fendt">Liane Fendt</name><affiliation><nlm:aff id="aff0005">Institute of Legal Medicine, Innsbruck Medical University, Muellerstrasse 44, 6020 Innsbruck, Austria</nlm:aff></affiliation></author><author><name sortKey="Rock, Alexander" sort="Rock, Alexander" uniqKey="Rock A" first="Alexander" last="Röck">Alexander Röck</name><affiliation><nlm:aff id="aff0005">Institute of Legal Medicine, Innsbruck Medical University, Muellerstrasse 44, 6020 Innsbruck, Austria</nlm:aff></affiliation></author><author><name sortKey="Zimmermann, Bettina" sort="Zimmermann, Bettina" uniqKey="Zimmermann B" first="Bettina" last="Zimmermann">Bettina Zimmermann</name><affiliation><nlm:aff id="aff0005">Institute of Legal Medicine, Innsbruck Medical University, Muellerstrasse 44, 6020 Innsbruck, Austria</nlm:aff></affiliation></author><author><name sortKey="Bodner, Martin" sort="Bodner, Martin" uniqKey="Bodner M" first="Martin" last="Bodner">Martin Bodner</name><affiliation><nlm:aff id="aff0005">Institute of Legal Medicine, Innsbruck Medical University, Muellerstrasse 44, 6020 Innsbruck, Austria</nlm:aff></affiliation></author><author><name sortKey="Thye, Thorsten" sort="Thye, Thorsten" uniqKey="Thye T" first="Thorsten" last="Thye">Thorsten Thye</name><affiliation><nlm:aff id="aff0010">Bernhard Nocht Institute for Tropical Medicine, Hamburg, Germany</nlm:aff></affiliation></author><author><name sortKey="Tschentscher, Frank" sort="Tschentscher, Frank" uniqKey="Tschentscher F" first="Frank" last="Tschentscher">Frank Tschentscher</name><affiliation><nlm:aff id="aff0015">Institute of Legal Medicine, Universitätsklinikum Essen, Germany</nlm:aff></affiliation></author><author><name sortKey="Owusu Dabo, Ellis" sort="Owusu Dabo, Ellis" uniqKey="Owusu Dabo E" first="Ellis" last="Owusu-Dabo">Ellis Owusu-Dabo</name><affiliation><nlm:aff id="aff0020">Kumasi Centre for Collaborative Research in Tropical Medicine, KNUST, Kumasi, Ghana</nlm:aff></affiliation><affiliation><nlm:aff id="aff0025">Department of Community Health, College of Health Sciences, SMS, KNUST, Kumasi, Ghana</nlm:aff></affiliation></author><author><name sortKey="Gobel, Tanja M K" sort="Gobel, Tanja M K" uniqKey="Gobel T" first="Tanja M. K." last="Göbel">Tanja M. K. Göbel</name><affiliation><nlm:aff id="aff0030">Institute of Legal Medicine, University Hospital, University of Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Schneider, Peter M" sort="Schneider, Peter M" uniqKey="Schneider P" first="Peter M." last="Schneider">Peter M. Schneider</name><affiliation><nlm:aff id="aff0030">Institute of Legal Medicine, University Hospital, University of Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Parson, Walther" sort="Parson, Walther" uniqKey="Parson W" first="Walther" last="Parson">Walther Parson</name><affiliation><nlm:aff id="aff0005">Institute of Legal Medicine, Innsbruck Medical University, Muellerstrasse 44, 6020 Innsbruck, Austria</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">21723214</idno><idno type="pmc">3314991</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3314991</idno><idno type="RBID">PMC:3314991</idno><idno type="doi">10.1016/j.fsigen.2011.05.011</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">000183</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000183</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">MtDNA diversity of Ghana: a forensic and phylogeographic view</title><author><name sortKey="Fendt, Liane" sort="Fendt, Liane" uniqKey="Fendt L" first="Liane" last="Fendt">Liane Fendt</name><affiliation><nlm:aff id="aff0005">Institute of Legal Medicine, Innsbruck Medical University, Muellerstrasse 44, 6020 Innsbruck, Austria</nlm:aff></affiliation></author><author><name sortKey="Rock, Alexander" sort="Rock, Alexander" uniqKey="Rock A" first="Alexander" last="Röck">Alexander Röck</name><affiliation><nlm:aff id="aff0005">Institute of Legal Medicine, Innsbruck Medical University, Muellerstrasse 44, 6020 Innsbruck, Austria</nlm:aff></affiliation></author><author><name sortKey="Zimmermann, Bettina" sort="Zimmermann, Bettina" uniqKey="Zimmermann B" first="Bettina" last="Zimmermann">Bettina Zimmermann</name><affiliation><nlm:aff id="aff0005">Institute of Legal Medicine, Innsbruck Medical University, Muellerstrasse 44, 6020 Innsbruck, Austria</nlm:aff></affiliation></author><author><name sortKey="Bodner, Martin" sort="Bodner, Martin" uniqKey="Bodner M" first="Martin" last="Bodner">Martin Bodner</name><affiliation><nlm:aff id="aff0005">Institute of Legal Medicine, Innsbruck Medical University, Muellerstrasse 44, 6020 Innsbruck, Austria</nlm:aff></affiliation></author><author><name sortKey="Thye, Thorsten" sort="Thye, Thorsten" uniqKey="Thye T" first="Thorsten" last="Thye">Thorsten Thye</name><affiliation><nlm:aff id="aff0010">Bernhard Nocht Institute for Tropical Medicine, Hamburg, Germany</nlm:aff></affiliation></author><author><name sortKey="Tschentscher, Frank" sort="Tschentscher, Frank" uniqKey="Tschentscher F" first="Frank" last="Tschentscher">Frank Tschentscher</name><affiliation><nlm:aff id="aff0015">Institute of Legal Medicine, Universitätsklinikum Essen, Germany</nlm:aff></affiliation></author><author><name sortKey="Owusu Dabo, Ellis" sort="Owusu Dabo, Ellis" uniqKey="Owusu Dabo E" first="Ellis" last="Owusu-Dabo">Ellis Owusu-Dabo</name><affiliation><nlm:aff id="aff0020">Kumasi Centre for Collaborative Research in Tropical Medicine, KNUST, Kumasi, Ghana</nlm:aff></affiliation><affiliation><nlm:aff id="aff0025">Department of Community Health, College of Health Sciences, SMS, KNUST, Kumasi, Ghana</nlm:aff></affiliation></author><author><name sortKey="Gobel, Tanja M K" sort="Gobel, Tanja M K" uniqKey="Gobel T" first="Tanja M. K." last="Göbel">Tanja M. K. Göbel</name><affiliation><nlm:aff id="aff0030">Institute of Legal Medicine, University Hospital, University of Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Schneider, Peter M" sort="Schneider, Peter M" uniqKey="Schneider P" first="Peter M." last="Schneider">Peter M. Schneider</name><affiliation><nlm:aff id="aff0030">Institute of Legal Medicine, University Hospital, University of Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Parson, Walther" sort="Parson, Walther" uniqKey="Parson W" first="Walther" last="Parson">Walther Parson</name><affiliation><nlm:aff id="aff0005">Institute of Legal Medicine, Innsbruck Medical University, Muellerstrasse 44, 6020 Innsbruck, Austria</nlm:aff></affiliation></author></analytic><series><title level="j">Forensic Science International. Genetics</title><idno type="ISSN">1872-4973</idno><idno type="eISSN">1878-0326</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>West Africa is characterized by a migration history spanning more than 150,000 years. Climate changes but also political circumstances were responsible for several early but also recent population movements that shaped the West African mitochondrial landscape. The aim of the study was to establish a Ghanaian mtDNA dataset for forensic purposes and to investigate the diversity of the Ghanaian population sample with respect to surrounding populations. We sequenced full mitochondrial control regions of 193 Akan people from Ghana and excluded two apparently close maternally related individuals due to preceding kinship testing. The remaining dataset comprising 191 sequences was applied as etalon for quasi-median network analysis and was subsequently combined with 99 additional control region sequences from surrounding West African countries. All sequences were incorporated into the EMPOP database enriching the severely underrepresented African mtDNA pool. For phylogeographic considerations, the Ghanaian haplotypes were compared to those of 19 neighboring populations comprising a total number of 6198 HVS1 haplotypes. We found extensive genetic admixture between the Ghanaian lineages and those from adjacent populations diminishing with geographical distance. The extent of genetic admixture reflects the long but also recent history of migration waves within West Africa mainly caused by changing environmental conditions. Also, evidence for potential socio-economical influences such as trade routes is provided by the occurrence of U6b and U6d sequences found in Dubai but also in Tunisia leading to the African West Coast via Mauritania and Senegal but also via Niger, Nigeria to Cameroon.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Munson, P J" uniqKey="Munson P">P.J. Munson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Shillington, K" uniqKey="Shillington K">K. Shillington</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Casey, J" uniqKey="Casey J">J. Casey</name></author><author><name sortKey="Sawatzky, R" uniqKey="Sawatzky R">R. Sawatzky</name></author><author><name sortKey="Godfrey Smith, D I" uniqKey="Godfrey Smith D">D.I. Godfrey-Smith</name></author><author><name sortKey="Quickert, N" uniqKey="Quickert N">N. 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<front><journal-meta><journal-id journal-id-type="nlm-ta">Forensic Sci Int Genet</journal-id><journal-id journal-id-type="iso-abbrev">Forensic Sci Int Genet</journal-id><journal-title-group><journal-title>Forensic Science International. Genetics</journal-title></journal-title-group><issn pub-type="ppub">1872-4973</issn><issn pub-type="epub">1878-0326</issn><publisher><publisher-name>Elsevier</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">21723214</article-id><article-id pub-id-type="pmc">3314991</article-id><article-id pub-id-type="publisher-id">S1872-4973(11)00126-8</article-id><article-id pub-id-type="doi">10.1016/j.fsigen.2011.05.011</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>MtDNA diversity of Ghana: a forensic and phylogeographic view</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Fendt</surname><given-names>Liane</given-names></name><xref rid="aff0005" ref-type="aff">a</xref></contrib><contrib contrib-type="author"><name><surname>Röck</surname><given-names>Alexander</given-names></name><xref rid="aff0005" ref-type="aff">a</xref></contrib><contrib contrib-type="author"><name><surname>Zimmermann</surname><given-names>Bettina</given-names></name><xref rid="aff0005" ref-type="aff">a</xref></contrib><contrib contrib-type="author"><name><surname>Bodner</surname><given-names>Martin</given-names></name><xref rid="aff0005" ref-type="aff">a</xref></contrib><contrib contrib-type="author"><name><surname>Thye</surname><given-names>Thorsten</given-names></name><xref rid="aff0010" ref-type="aff">b</xref></contrib><contrib contrib-type="author"><name><surname>Tschentscher</surname><given-names>Frank</given-names></name><xref rid="aff0015" ref-type="aff">c</xref><xref rid="fn0005" ref-type="fn">1</xref></contrib><contrib contrib-type="author"><name><surname>Owusu-Dabo</surname><given-names>Ellis</given-names></name><xref rid="aff0020" ref-type="aff">d</xref><xref rid="aff0025" ref-type="aff">e</xref></contrib><contrib contrib-type="author"><name><surname>Göbel</surname><given-names>Tanja M.K.</given-names></name><xref rid="aff0030" ref-type="aff">f</xref></contrib><contrib contrib-type="author"><name><surname>Schneider</surname><given-names>Peter M.</given-names></name><xref rid="aff0030" ref-type="aff">f</xref></contrib><contrib contrib-type="author"><name><surname>Parson</surname><given-names>Walther</given-names></name><email>walther.parson@i-med.ac.at</email><xref rid="aff0005" ref-type="aff">a</xref><xref rid="cor0005" ref-type="corresp">⁎</xref></contrib></contrib-group><aff id="aff0005"><label>a</label>Institute of Legal Medicine, Innsbruck Medical University, Muellerstrasse 44, 6020 Innsbruck, Austria</aff><aff id="aff0010"><label>b</label>Bernhard Nocht Institute for Tropical Medicine, Hamburg, Germany</aff><aff id="aff0015"><label>c</label>Institute of Legal Medicine, Universitätsklinikum Essen, Germany</aff><aff id="aff0020"><label>d</label>Kumasi Centre for Collaborative Research in Tropical Medicine, KNUST, Kumasi, Ghana</aff><aff id="aff0025"><label>e</label>Department of Community Health, College of Health Sciences, SMS, KNUST, Kumasi, Ghana</aff><aff id="aff0030"><label>f</label>Institute of Legal Medicine, University Hospital, University of Cologne, Germany</aff><author-notes><corresp id="cor0005"><label>⁎</label>Corresponding author. Tel.: +43 512 9003 70640; fax: +43 512 9003 73640. <email>walther.parson@i-med.ac.at</email></corresp><fn id="fn0005"><label>1</label><p>Landeskriminalamt Düsseldorf, Germany.</p></fn></author-notes><pub-date pub-type="pmc-release"><day>1</day><month>3</month><year>2012</year></pub-date><pmc-comment> PMC Release delay is 0 months and 0 days and was based on .</pmc-comment>
<pub-date pub-type="ppub"><month>3</month><year>2012</year></pub-date><volume>6</volume><issue>2</issue><fpage>244</fpage><lpage>249</lpage><history><date date-type="received"><day>7</day><month>3</month><year>2011</year></date><date date-type="rev-recd"><day>13</day><month>5</month><year>2011</year></date><date date-type="accepted"><day>26</day><month>5</month><year>2011</year></date></history><permissions><copyright-statement>© 2012 Elsevier Ireland Ltd.</copyright-statement><copyright-year>2011</copyright-year><copyright-holder>Elsevier Ireland Ltd</copyright-holder><license xlink:href="https://creativecommons.org/licenses/by-nc-nd/3.0/"><license-p>Open Access under <ext-link ext-link-type="uri" xlink:href="https://creativecommons.org/licenses/by-nc-nd/3.0/">CC BY-NC-ND 3.0</ext-link> license</license-p></license></permissions><abstract><p>West Africa is characterized by a migration history spanning more than 150,000 years. Climate changes but also political circumstances were responsible for several early but also recent population movements that shaped the West African mitochondrial landscape. The aim of the study was to establish a Ghanaian mtDNA dataset for forensic purposes and to investigate the diversity of the Ghanaian population sample with respect to surrounding populations. We sequenced full mitochondrial control regions of 193 Akan people from Ghana and excluded two apparently close maternally related individuals due to preceding kinship testing. The remaining dataset comprising 191 sequences was applied as etalon for quasi-median network analysis and was subsequently combined with 99 additional control region sequences from surrounding West African countries. All sequences were incorporated into the EMPOP database enriching the severely underrepresented African mtDNA pool. For phylogeographic considerations, the Ghanaian haplotypes were compared to those of 19 neighboring populations comprising a total number of 6198 HVS1 haplotypes. We found extensive genetic admixture between the Ghanaian lineages and those from adjacent populations diminishing with geographical distance. The extent of genetic admixture reflects the long but also recent history of migration waves within West Africa mainly caused by changing environmental conditions. Also, evidence for potential socio-economical influences such as trade routes is provided by the occurrence of U6b and U6d sequences found in Dubai but also in Tunisia leading to the African West Coast via Mauritania and Senegal but also via Niger, Nigeria to Cameroon.</p></abstract><kwd-group><title>Keywords</title><kwd>MtDNA</kwd><kwd>Sequencing</kwd><kwd>Control region</kwd><kwd>EMPOP</kwd><kwd>Africa</kwd><kwd>Forensic science</kwd><kwd>Ghana</kwd></kwd-group></article-meta></front><body><sec sec-type="intro" id="sec0005"><label>1</label><title>Introduction</title><p>The so-called “Empire of Ghana”, also known as “Wagadou Empire”, flourished from 750 to 1076 AD and covered an area that spread from Mauritania to Senegal including the western parts of Mali that became rich by trading salt and gold. Besides its name, however, it is in no ways related to modern Ghana <xref rid="bib0005" ref-type="bibr">[1]</xref>. Under British rule, the area was named “Gold coast” due to the vast natural resources. With the declaration of independence in 1957, the former colony was renamed into the “Republic of Ghana”. The area of modern Ghana was reported to be first populated approximately 150,000 years before present (ybp) <xref rid="bib0010" ref-type="bibr">[2]</xref>. The settlers belonged to the Sango or Sangoan culture but with the beginning of a period of heavy dryness 25,000–15,000 ybp those people moved away from the plains <xref rid="bib0010" ref-type="bibr">[2]</xref>. Archaeological evidence from that region dates further human presence to 5800 ybp. The Kintapo culture arose during a short but dry phase from about 4000 to 2700 ybp subsiding on livestock breeding and forest land cultivation <xref rid="bib0015" ref-type="bibr">[3]</xref>. With continuous disappearance of the rain forest and the introduction of oil palm trees, a transition to farming and cultivation of forestland took place. Nevertheless, people left the region due to ongoing dryness <xref rid="bib0015" ref-type="bibr">[3]</xref>. Today's autochthonous population is considered to be descendant of groups that came from the North and Northeast immigrating the areas of the savannah between the 9th and 10th century. Between the 11th and the 15th century major migration waves took place around the Volta basin. Most present-day Ghanaians are considered descendants from several of these migrant groups, the first of which probably came down to the Volta River basin <xref rid="bib0010 bib0020 bib0025" ref-type="bibr">[2,4,5]</xref>. Based on language and culture, historical geographers and cultural anthropologists have classified the indigenous people of Ghana into five major groupings; Akan, Ewe, Mole-Dagbani, Guan and Ga-Adangbe <xref rid="bib0020" ref-type="bibr">[4]</xref>. The Akan ethnic group is most dominant comprising 44% of Ghana's population <xref rid="bib0030" ref-type="bibr">[6]</xref>. Whereas the Akan people occupy nearly the whole South and West of the Black Volta River and are reported to have migrated from the North occupying the forest and coastal areas as early as in the 13th century, there are no empirical data to trace such and the current representation of 3 West Africa on the EMPOP database is low with very little forensic mtDNA reports from that region of Africa. In this study we therefore investigated the matrilineal genetic diversity based on complete mitochondrial control region (CR) sequences from 191 Akan people and compared them to those from neighboring regions in order to infer phylogeographic patterns to help enrich the body of forensic mtDNA population data and also to contribute to the current EMPOP database.</p></sec><sec sec-type="materials|methods" id="sec0010"><label>2</label><title>Materials and methods</title><sec id="sec0015"><label>2.1</label><title>Samples and DNA extraction</title><p>A set of 193 samples was randomly selected from a group of 5100 apparently unrelated, 18–55 years old residents of a rural area in the Asante Akim North District, Ashanti Region, Ghana. All belonged to the Akan ethnic group. Donors gave their informed consent before samples were taken. They were then anonymized for analysis and transferred to Hamburg, Germany, for the forensic and laboratory data analysis. The study was approved by the Committee on Human Research Publication and Ethics, School of Medical Sciences, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana. Total DNA was extracted from peripheral blood using standard protocols <xref rid="bib0035" ref-type="bibr">[7]</xref>.</p></sec><sec id="sec0020"><label>2.2</label><title>MtDNA sequencing and haplogroup assignment</title><p>Full mitochondrial control regions were amplified and sequenced according to EMPOP recommendations <xref rid="bib0040" ref-type="bibr">[8]</xref> resulting in sequences with a common reading frame from position 16024 to 576. Sequences were aligned to the rCRS using Sequencher V4.8 (GeneCodes, Ann Arbor, MI) following updated nomenclature guidelines for mtDNA <xref rid="bib0045" ref-type="bibr">[9]</xref>. According to our in-house data quality management process, the resulting consensus sequences were inspected independently by two different analysts and reviewed by a third person. Haplogroup affiliations were assigned according to the mitochondrial phylogenetic tree <xref rid="bib0050" ref-type="bibr">[10]</xref>, build 11. Haplotypes are provided for forensic searches under accession numbers <ext-link ext-link-type="uri" xlink:href="ncbi-p:EMP00003">EMP00003</ext-link>, <ext-link ext-link-type="uri" xlink:href="ncbi-p:EMP00046">EMP00046</ext-link>, <ext-link ext-link-type="uri" xlink:href="ncbi-p:EMP00081">EMP00081</ext-link> and <ext-link ext-link-type="uri" xlink:href="ncbi-p:EMP00082">EMP00082</ext-link> in the EMPOP database (<ext-link ext-link-type="uri" xlink:href="http://www.empop.org/">www.empop.org</ext-link>; <xref rid="bib0055" ref-type="bibr">[11]</xref>) and in <xref rid="sec0085" ref-type="sec">supplementary file 1</xref>.</p></sec><sec id="sec0025"><label>2.3</label><title>Identification of maternally closely related individuals using STR markers</title><p>All identical mitochondrial haplotypes (disregarding length variants around positions 309, 16193 and 573) were tested for accidental double analysis of the same individual or close maternal relationship between individuals (monozygotic twins, full or half siblings as well as mother/child) by STR analysis using PowerPlex ESX17 System (Promega Corporation, Madison, WI, USA). Relevant scenarios were evaluated using “Familias”, a freeware to compute probabilities and likelihoods for paternity and identification cases <xref rid="bib0065 bib0070" ref-type="bibr">[13,14]</xref>. Likelihood ratios were calculated for each putative related versus unrelated sample pair. Cut-off values for exclusion scenarios were applied according to Evett <xref rid="bib0075" ref-type="bibr">[15]</xref>, and modified by Bodner et al. <xref rid="bib0060" ref-type="bibr">[12]</xref>.</p></sec><sec id="sec0030"><label>2.4</label><title>Post laboratory data inspection</title><p>The error-rate in mtDNA analysis is generally still unacceptably high as manifested by transcriptional, clerical and interpretational errors in the literature. The visualization of datasets in form of quasi-median networks has proven a powerful tool to unmask data idiosyncrasies that could represent such errors <xref rid="bib0080" ref-type="bibr">[16]</xref>. We have recently updated network tools for investigating West Eurasian mtDNA CR sequences <xref rid="bib0085" ref-type="bibr">[17]</xref> and present here an etalon file representative of West African CR sequences in conjunction with an adapted filter file. In addition to the <italic>speedy</italic> filter presented in <xref rid="bib0055" ref-type="bibr">[11]</xref> the following transitions/transversions were filtered: A95C, G185A, G185T, C186A, A189G, A189C, G247A, G316A, A357G, G513A, C16114A, C16114T, C16168T, C16184T, A16230G and A16399G.</p></sec><sec id="sec0035"><label>2.5</label><title>Diversity indices and population genetic analysis</title><p>Within our Ghana sample set the random match probability was calculated as the sum of squared CR frequencies, disregarding length variants at positions 16193, 309 and 573. This sample set was compared with 6007 published mtDNA HVS1 sequences from 19 surrounding populations <xref rid="bib0090 bib0095 bib0100 bib0105 bib0110 bib0115 bib0120 bib0125 bib0130 bib0135 bib0140 bib0145 bib0150 bib0155 bib0160 bib0165 bib0170 bib0175 bib0180 bib0185 bib0190" ref-type="bibr">[18–38]</xref>. All sequences were aligned to the greatest common range comprising positions 16030–16365. Length variants at position 16193 were disregarded. Intra- as well as interpopulation comparisons were performed based on the number of pairwise differences between sequences, molecular diversity indices and the molecular variance (AMOVA). Calculations were performed using the Arlequin software package (<ext-link ext-link-type="uri" xlink:href="http://cmpg.unibe.ch/software/arlequin35/">http://cmpg.unibe.ch/software/arlequin35/</ext-link>; version 3.5.1.2). In order to detect the underlying interpopulation structure we applied a multidimensional scaling (MDS) approach which uses a function minimization algorithm to maximize the goodness-of-fit. We used average population pairwise differences for calculating the multidimensional scaling plot (<xref rid="sec0085" ref-type="sec">Supplementary Fig. 1</xref>).</p></sec></sec><sec id="sec0040"><label>3</label><title>Results and discussion</title><sec id="sec0045"><label>3.1</label><title>Identification of maternally closely related individuals</title><p>Identical haplotypes were further investigated with nuclear markers (STRs) to test for accidental double analysis of the same individual or presence of closely maternally related individuals following the concept outlined in <xref rid="bib0060" ref-type="bibr">[12]</xref>. Twins and double analysis of the same person were excluded due to the absence of identical STR genotypes. Mother/child relationships were excluded by direct comparison of the relevant STR genotypes. Likelihood ratios (LR) for full and half sibling constellations versus unrelated were calculated for 79 sample pairs that shared identical mtDNA haplotypes. In 75 cases LR values did not suggest close maternal relationship (LR < 10). In two sample pairs LR values indicated the presence of siblings (LRs of 1.5 × 10<sup>6</sup> and 3.3 × 10<sup>4</sup>, respectively). We therefore excluded one of the identical haplotypes of each pair for further analysis. In two other cases LR values did not indicate the presence of closely maternally related individuals (LRs of 129 and 236, respectively) but potentially more distant relationships. We therefore decided to retain these haplotypes in our dataset resulting in a final number of 191 mtDNA haplotypes.</p></sec><sec id="sec0050"><label>3.2</label><title>Observed CR haplotypes and diversity indices</title><p>In the Ghanaian population sample of 191 individuals we observed a total of 127 different haplotypes of which 96 were unique (disregarding length variants around positions 16193, 309 and 573) (<xref rid="tbl0005" ref-type="table">Table 1</xref>). The most common mitochondrial CR haplotype represented the haplogroup (hg) L1b sequence motif 16126C-16187T-16189C-16223T-16264T-16270T-16278T-16293G-16311C-16519C-73G-<ext-link ext-link-type="uri" xlink:href="pdb:146C">146C</ext-link>-<ext-link ext-link-type="uri" xlink:href="pdb:152C">152C</ext-link>-<ext-link ext-link-type="uri" xlink:href="pdb:182T">182T</ext-link>-<ext-link ext-link-type="uri" xlink:href="pdb:185T">185T</ext-link>-<ext-link ext-link-type="uri" xlink:href="pdb:195C">195C</ext-link>-<ext-link ext-link-type="uri" xlink:href="pdb:247A">247A</ext-link>-<ext-link ext-link-type="uri" xlink:href="pdb:263G">263G</ext-link>-(309.1C)-315.1C-<ext-link ext-link-type="uri" xlink:href="pdb:357G">357G</ext-link>-523DEL-524DEL with nine (4.7%) observations followed by the L1c sequence motif 16129A-16182C-16183C-16189C-16213A-16215G-16223T-16278T-16291T-16294T-16311C-16355T-16360T-16519C-73G-151T-152C-182T-186A-189C-247A-263G-(309.1C)-315.1C-316A-523DEL-524DEL with eight (4.2%) observations reflecting the low diversity within the L1 haplotypes in the Akan population. The random match probability (disregarding length variants at positions 16193, 309 and 573) was 1.3%. Hence, the power of discrimination by CR was calculated as 98.7%.</p></sec><sec id="sec0055"><label>3.3</label><title>Point heteroplasmy</title><p>We found nine point heteroplasmic transitions and one point heteroplasmic transversion in a total of ten samples, out of which six (16189Y, 16093Y, <ext-link ext-link-type="uri" xlink:href="pdb:215R">215R</ext-link>, 64Y, 16309R, <ext-link ext-link-type="uri" xlink:href="pdb:228R">228R</ext-link>) coincide with typical heteroplasmic hotspots <xref rid="bib0195" ref-type="bibr">[39]</xref>. In two instances (16286Y and 16525R) we found heteroplasmy that was not observed earlier <xref rid="bib0195" ref-type="bibr">[39]</xref>. In addition, four of these six heteroplasmic mutations affected evolutionary fast sites <xref rid="bib0200 bib0205" ref-type="bibr">[40,41]</xref>. The observed point heteroplasmy at position 215 confirms earlier reports <xref rid="bib0195" ref-type="bibr">[39]</xref> that explain the evolutionary stability of this position with regulatory functions <xref rid="bib0210" ref-type="bibr">[42]</xref>. A mixture containing mitochondrial populations carrying either a C or a T at position 16093 occurred twice in our dataset. The transversion 16182M was also observed by <xref rid="bib0195" ref-type="bibr">[39]</xref> at a frequency of 0.06%.</p></sec><sec id="sec0060"><label>3.4</label><title>Haplogroup composition and distribution</title><p>The 191 haplotypes from Ghana were assigned to 45 distinct CR haplogroups (<xref rid="tbl0010" ref-type="table">Table 2</xref>) according to the mitochondrial phylogeny <xref rid="bib0050" ref-type="bibr">[10]</xref>, build 11. The overwhelming majority (98.4%) belonged to the three Africa-specific haplogroups L1–L3. The occurrence of L1–L3 branches in West Africa are documented by Salas et al. <xref rid="bib0215" ref-type="bibr">[43]</xref>, Veeramah et al. <xref rid="bib0100" ref-type="bibr">[20]</xref> and González et al. <xref rid="bib0180" ref-type="bibr">[36]</xref> with which our data are in general accordance. However, within L1 (26% of all sequences in our sample set) our results indicate a dominance of L1b lineages (54%) in Ghanaians, whereas the L1c cluster constituted the majority in <xref rid="bib0215" ref-type="bibr">[43]</xref>. Recent findings of Veeramah et al. display generally lower levels of L1 lineages in Ghana, in total 16%, but with similar ratios between L1b (50%) and L1c (32%) as compared to our dataset. A similar observation accounts for L3e and L3f subclusters, which were most frequent (66.2%) among Ghanaian L3 lineages in our study which is also in accordance with observations of Veeramah et al. <xref rid="bib0100" ref-type="bibr">[20]</xref> whereas L3b and L3d were the dominant L3 haplogroups in <xref rid="bib0215" ref-type="bibr">[43]</xref>. Contrary to Veeramah et al. reporting the absence of L3e1 haplotypes in their Ghanaian samples while being present in neighboring regions we detected at least low levels (2%) of L3e1 haplotypes in our data. Haplogroup distribution of West African population of Mauritania <xref rid="bib0180" ref-type="bibr">[36]</xref> showed significantly higher proportions of non L lineages. Approximately 55% of their sequences had Euroasiatic provenance. This dominant Euroasiatic influence which cannot be recognized in regions south of Mauritania is explained by the fact that the Mauritanian samples derived from Berber/Arabic individuals from Northern regions. Mauritania constitutes an important barrier to southwards gene flow as three quarters of the region is desert or semidesert.</p><p>We were able to dissect the L1 haplotypes in three L1b and five L1c lineages whereof L1b1 (67% of L1b lineages) and L1c3a (65% of L1c lineages) were most frequent. Low diversity in haplogroup L1b based on HVS1 and 2 sequences was also observed by <xref rid="bib0185" ref-type="bibr">[37]</xref> as six out of nine known L1b subclades can only be characterized based on coding region mutations. Contrarily to our study, L1c sequences displayed high diversity values in <xref rid="bib0185" ref-type="bibr">[37]</xref>. Only 0.7% remained further undissolved, while 44.6% were assigned to L1c1a1, 28.5% to L1c1a2, 2.1% to L1c1, 6.8% to L1c1b, 4.6% to L1c2 and 6.2% to L1c3.</p><p>Our study confirms the weak signal of haplogroup L0a as well as U6a presence in West Africa <xref rid="bib0100 bib0180 bib0210" ref-type="bibr">[20,36,42]</xref>. Within our sample set we found only one L0a1b1 (0.5%) and two U6a (1%) lineages (<xref rid="tbl0010" ref-type="table">Table 2</xref>). These haplogroups show striking regional differences. Haplogroup L0a reaches a frequency of up to 25% in East Africa and is dispersed at low frequency north of the Sahara <xref rid="bib0115 bib0135 bib0215" ref-type="bibr">[23,27,43]</xref>, while haplogroup U6a arrives at frequencies up to 45% in North Africa as a re-immigration signal from the Near East <xref rid="bib0215" ref-type="bibr">[43]</xref>. Very interesting, in that respect is the finding, that we only found U6a lineages that have been reported to be dispersed from the North Maghrib region including the Atlas Mountains and the coastal plain of Morocco, Algeria, Tunisia, and Libya to the East including Syria and Ethiopia as well as to the Canary Islands in the west <xref rid="bib0220" ref-type="bibr">[44]</xref>. In contrast, within our Ghanaian population sample we did not find U6b or U6d lineages which have been reported to be distributed only sporadically in the North but found more frequently in western regions such as Senegal and Nigeria <xref rid="bib0220" ref-type="bibr">[44]</xref>. It has been proposed that the occurrence of U6b in diverse western African countries reflects either a wider distribution in the past or more recent gene flow from yet unsampled regions <xref rid="bib0220" ref-type="bibr">[44]</xref>. Our U6b and U6d haplogroup screening among 6198 mtDNA sequences from states neighboring Ghana rather indicates potential migration or trade routes from North Africa to the Western coast, as evidenced by the occurrence of U6b and U6d lineages in neighboring countries Mauritania and Senegal. A second intercontinental route reveals the migration from North Africa via Niger, Nigeria to the Cameroon evidenced by U6b and U6d signals within those countries. U6b lineages have also been detected in Saudi Arabia <xref rid="bib0190" ref-type="bibr">[38]</xref>, hence these findings are in agreement with reported trade routes from the North/Near East including the introduction of the camel in that area <xref rid="bib0020" ref-type="bibr">[4]</xref>. The absence of M1 lineages in our Ghanaian population goes along with previous findings that M1 is most frequent in East Africa with two appreciable gradients one diminishing to the South and a second to the West <xref rid="bib0145" ref-type="bibr">[29]</xref>.</p><p>Macrohaplogroups L4–L6 were absent in our Ghanaian dataset. Based on available data haplogroup L4 seems more abundant within East Africa <xref rid="bib0220" ref-type="bibr">[44]</xref> but only scarcely present in West Africa (Nigeria and Ghana <xref rid="bib0100" ref-type="bibr">[20]</xref>). Haplogroup L5 also seems to show higher frequencies in East Africa <xref rid="bib0120 bib0130 bib0225 bib0230" ref-type="bibr">[24,26,45,46]</xref> with traces in the Congo <xref rid="bib0180" ref-type="bibr">[36]</xref> as well as in Cameroon <xref rid="bib0105" ref-type="bibr">[21]</xref> while haplogroup L6 seems to be more frequent north of the equator <xref rid="bib0100 bib0120" ref-type="bibr">[20,24]</xref>.</p></sec><sec id="sec0065"><label>3.5</label><title>Population comparisons</title><p>We compared HVS1 sequences with a common range of 16030–16365 of 20 African populations comprising samples from Ghana (GHA) whereof 191 were from this study, Central African Republic (CAF), Cameroon (CMR), Egypt (EGY), Ethiopia (ETH), Gabon (GAB), Burkina Faso (BFA), Guinea-Bissau (GNB), Kenya (KEN), Libyan Arab Jamahiriya (LBY), Morocco (MAR), Mali (MLI), Mauritania (MRT), Niger (NER), Nigeria (NGA), Senegal (SEN), Sierra Leone (SLE), Chad (TCD) and Tunisia (TUN) (<xref rid="tbl0005" ref-type="table">Table 1</xref>).</p><p>Intrapopulation diversity values (expressed as average number of pairwise differences) ranged from 9.96 ± 4.57 (Ethiopia) to 4.12 ± 2.06 (Libyan Arab Jamahiriya).</p><p>The great majority of the observed populations varied significantly in terms of their genetic structure (<xref rid="sec0085" ref-type="sec">Supplementary Table 1(3)</xref>). AMOVA was used to test for significant variation in the mtDNA structure among the populations (<xref rid="sec0085" ref-type="sec">Supplementary Table 1</xref>). The vast majority of the observed variance (92.7%) within the 20 populations was attributable to differences within populations, only 7.3% represented differences among populations (<xref rid="sec0085" ref-type="sec">Supplementary Table 1 (1)</xref>). An MDS plot was calculated to depict the dissimilarities between the observed populations as distance matrix based on average population pairwise differences (<xref rid="sec0085" ref-type="sec">Supplementary Fig. 1)</xref>. The MDS plot clearly evidenced that our Ghana sequences clustered together with those populations being geographically closest (Sierra Leone, Guinea Bissau, Mali, Niger, Nigeria, Burkina Faso) which could reflect recent maternal gene flow and admixture among those areas. Also, geographically more distant populations clustered together such as Tunisia, Morocco, Libyan Arab Jamahiriya and Egypt as well as Ethiopia and Kenya, but also Senegal and Mauritania.</p></sec><sec id="sec0070"><label>3.6</label><title>Network analysis</title><p>The passage of the 191 Ghanaian CR sequences through the modified filter resulted in simple quasi-median network torsi for both HVS1 (16024-16569) and HVS2 (1-576) sequences (<xref rid="fig0005" ref-type="fig">Fig. 1</xref>). The addition of 99 West African CR sequences only slightly increased the complexity of both network torsi (<xref rid="sec0085" ref-type="sec">Supplementary Fig. 2a and b</xref>). The expected star-like shaped torsi even remained for larger data sets including high-quality literature data (up to a total size of 450, data not shown) which demonstrates the robustness of the etalon and the adapted filter. We filtered both <italic>speedy</italic> (e.g. transitions at 16384, 16399) as well as relatively stable mutations (e.g. transitions at 357, 16320), as those would otherwise introduce reticulations and parallel structures that make the network difficult to read. Similar to earlier experience <xref rid="bib0085" ref-type="bibr">[17]</xref> we expect this etalon to serve as probative means to evaluate new population data from West Africa.</p></sec></sec><sec sec-type="conclusions" id="sec0075"><label>4</label><title>Conclusions</title><p>Here we present the first mtDNA data set providing full control region sequences from Ghana which is of high forensic importance due to the actual underrepresentation of African mtDNA data in general. So far, EMPOP holds only 377 African sequences that meet the quality criterion “forensic data” (see <ext-link ext-link-type="uri" xlink:href="http://www.empop.org/">www.empop.org</ext-link>; “concept”) representing 100 from Kenya in East Africa and 277 from Egypt in North Africa. Other mtDNA databases show comparable lack of African mtDNA data. In addition we present a West African etalon dataset that can be used in conjunction with an adapted filter for graphical representation and quality control of new West African mtDNA sequences by means of quasi-median network analysis.</p></sec></body><back><ref-list><title>References</title><ref id="bib0005"><label>1</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Munson</surname><given-names>P.J.</given-names></name></person-group><article-title>Archaeology and the prehistoric origins of the Ghana empire</article-title><source>J. Afr. 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Genet.</source><volume>65</volume><year>2001</year><fpage>439</fpage><lpage>458</lpage><pub-id pub-id-type="pmid">11806853</pub-id></element-citation></ref></ref-list><sec id="sec0085" sec-type="supplementary-material"><label>Appendix A</label><title>Supplementary data</title><p><supplementary-material content-type="local-data" id="upi0005"><media xlink:href="mmc1.xls"></media></supplementary-material><supplementary-material content-type="local-data" id="upi0010"><media xlink:href="mmc2.doc"></media></supplementary-material></p></sec><ack><title>Acknowledgements</title><p>We would like to thank Christian Timmann, Rolf D. Horstmann (Dept. of Molecular Medicine) and Bernhard Nocht (Institute for Tropical Medicine, Hamburg, Germany) for the collection of samples and Daniela Niederwieser (Institute of Legal Medicine, Innsbruck Medical University) for valuable technical assistance. This study received support by the <funding-source>Austrian Science Fund (FWF): project L397</funding-source>.</p></ack><fn-group><fn id="sec0080" fn-type="supplementary-material"><label>Appendix A</label><p>Supplementary data associated with this article can be found, in the online version, at <ext-link ext-link-type="doi" xlink:href="10.1016/j.fsigen.2011.05.011">doi:10.1016/j.fsigen.2011.05.011</ext-link>.</p></fn></fn-group></back><floats-group><fig id="fig0005"><label>Fig. 1</label><caption><p>Quasi-median network torsi of: (a) HVS1 (16024-16569) and (b) HVS2 (1-576) of 191 Ghanaian sequences after passage through the adapted EMPOP <italic>speedy</italic> filter <xref rid="bib0055" ref-type="bibr">[11]</xref>.</p></caption><graphic xlink:href="gr1"></graphic></fig><table-wrap id="tbl0005" position="float"><label>Table 1</label><caption><p>Diversity indices for 6198 published HVS1 mtDNA sequences including 191 Ghanaian samples from this study. HVS1 motives span from 16030 to 16365, length variation around position 16193 was disregarded. The comparison was performed among 20 populations (abbreviated according to the international three letter code).</p></caption><table frame="hsides" rules="groups"><thead><tr><th align="left">Population</th><th align="left">GHA<xref rid="tblfn0005" ref-type="table-fn">a</xref></th><th align="left">GHA</th><th align="left">CAF</th><th align="left">CMR</th><th align="left">EGY</th><th align="left">ETH</th><th align="left">GAB</th></tr></thead><tbody><tr><td align="left"><italic>N</italic></td><td align="left">191</td><td align="left">191</td><td align="left">56</td><td align="left">1131</td><td align="left">312</td><td align="left">185</td><td align="left">946</td></tr><tr><td align="left">Reference</td><td align="left">This study</td><td align="left">This study</td><td align="left"><xref rid="bib0185" ref-type="bibr">[37]</xref></td><td align="left"><xref rid="bib0090 bib0095 bib0100 bib0105 bib0185 bib0190" ref-type="bibr">[18,19,20,21,37,38]</xref></td><td align="left"><xref rid="bib0110 bib0115" ref-type="bibr">[22,23]</xref></td><td align="left"><xref rid="bib0095 bib0120 bib0165" ref-type="bibr">[19,24,33]</xref></td><td align="left"><xref rid="bib0185" ref-type="bibr">[37]</xref></td></tr><tr><td align="left">Nr. of haplotypes</td><td align="left">127</td><td align="left">99</td><td align="left">11</td><td align="left">393</td><td align="left">204</td><td align="left">105</td><td align="left">264</td></tr><tr><td align="left">Nr. of unique haplotypes</td><td align="left">96</td><td align="left">69</td><td align="left">3</td><td align="left">252</td><td align="left">150</td><td align="left">64</td><td align="left">144</td></tr><tr><td align="left">Haplotype diversity</td><td align="left">0.987</td><td align="left">0.98</td><td align="left">0.81</td><td align="left">0.98</td><td align="left">0.99</td><td align="left">0.99</td><td align="left">0.98</td></tr><tr><td align="left">Mean pairwise differences</td><td align="left">15.55 ± 6.97</td><td align="left">7.79 ± 3.64</td><td align="left">6.01 ± 2.90</td><td align="left">9.85 ± 4.51</td><td align="left">7.03 ± 3.30</td><td align="left">9.96 ± 4.57</td><td align="left">9.68 ± ± 4.44</td></tr></tbody></table><table frame="hsides" rules="groups"><thead><tr><th align="left">Population</th><th align="left">GHA</th><th align="left">BFA</th><th align="left">GNB</th><th align="left">KEN</th><th align="left">LBY</th><th align="left">MAR</th><th align="left">MLI</th></tr></thead><tbody><tr><td align="left"><italic>N</italic></td><td align="left">238</td><td align="left">137</td><td align="left">373</td><td align="left">178</td><td align="left">129</td><td align="left">56</td><td align="left">147</td></tr><tr><td align="left">Reference</td><td align="left"><xref rid="bib0100" ref-type="bibr">[20]</xref></td><td align="left"><xref rid="bib0090 bib0095 bib0170" ref-type="bibr">[18,19,34]</xref></td><td align="left"><xref rid="bib0125 bib0165" ref-type="bibr">[25,33]</xref></td><td align="left"><xref rid="bib0095 bib0130 bib0135 bib0165" ref-type="bibr">[19,26,27,33]</xref></td><td align="left"><xref rid="bib0135" ref-type="bibr">[27]</xref></td><td align="left"><xref rid="bib0140" ref-type="bibr">[28]</xref></td><td align="left"><xref rid="bib0095 bib0170 bib0180" ref-type="bibr">[19,34,36]</xref></td></tr><tr><td align="left">Nr. of haplotypes</td><td align="left">137</td><td align="left">38</td><td align="left">183</td><td align="left">140</td><td align="left">19</td><td align="left">42</td><td align="left">98</td></tr><tr><td align="left">Nr. of unique haplotypes</td><td align="left">101</td><td align="left">17</td><td align="left">120</td><td align="left">116</td><td align="left">5</td><td align="left">37</td><td align="left">76</td></tr><tr><td align="left">Haplotype diversity</td><td align="left">0.98</td><td align="left">0.95</td><td align="left">0.98</td><td align="left">0.99</td><td align="left">0.67</td><td align="left">0.95</td><td align="left">0.98</td></tr><tr><td align="left">Mean pairwise differences</td><td align="left">7.00 ± 3.30</td><td align="left">6.57 ± 3.12</td><td align="left">7.79 ± 3.64</td><td align="left">9.56 ± 4.40</td><td align="left">4.12 ± 2.06</td><td align="left">6.34 ± 3.05</td><td align="left">6.72 ± ± 3.19</td></tr></tbody></table><table frame="hsides" rules="groups"><thead><tr><th align="left">Population</th><th align="left">MRT</th><th align="left">NER</th><th align="left">NGA</th><th align="left">SEN</th><th align="left">SLE</th><th align="left">TCD</th><th align="left">TUN</th></tr></thead><tbody><tr><td align="left"><italic>N</italic></td><td align="left">64</td><td align="left">75</td><td align="left">1302</td><td align="left">268</td><td align="left">277</td><td align="left">69</td><td align="left">64</td></tr><tr><td align="left">Reference</td><td align="left"><xref rid="bib0180" ref-type="bibr">[36]</xref></td><td align="left"><xref rid="bib0095 bib0170" ref-type="bibr">[19,34]</xref></td><td align="left"><xref rid="bib0095 bib0100 bib0175" ref-type="bibr">[19,20,35]</xref></td><td align="left"><xref rid="bib0150" ref-type="bibr">[30]</xref></td><td align="left"><xref rid="bib0155" ref-type="bibr">[31]</xref></td><td align="left"><xref rid="bib0090 bib0165" ref-type="bibr">[18,33]</xref></td><td align="left"><xref rid="bib0140" ref-type="bibr">[28]</xref></td></tr><tr><td align="left">Nr. of haplotypes</td><td align="left">43</td><td align="left">53</td><td align="left">449</td><td align="left">165</td><td align="left">151</td><td align="left">40</td><td align="left">49</td></tr><tr><td align="left">Nr. of unique haplotypes</td><td align="left">33</td><td align="left">42</td><td align="left">278</td><td align="left">125</td><td align="left">98</td><td align="left">30</td><td align="left">41</td></tr><tr><td align="left">Haplotype diversity</td><td align="left">0.96</td><td align="left">0.97</td><td align="left">0.99</td><td align="left">0.99</td><td align="left">0.99</td><td align="left">0.95</td><td align="left">0.97</td></tr><tr><td align="left">Mean pairwise differences</td><td align="left">6.41 ± 3.07</td><td align="left">7.62 ± 3.56</td><td align="left">8.43 ± 3.90</td><td align="left">6.75 ± 3.19</td><td align="left">7.90 ± 3.69</td><td align="left">7.04 ± 3.35</td><td align="left">7.51 ± 3.55</td></tr></tbody></table><table-wrap-foot><fn id="tblfn0005"><label>a</label><p>Diversity indices of 191 mtDNA sequences from Ghana based on complete control region haplotypes spanning positions 16024-576 (length variation around positions 16193, 309 and 573 was disregarded).</p></fn></table-wrap-foot></table-wrap><table-wrap id="tbl0010" position="float"><label>Table 2</label><caption><p>Haplogroup frequencies of 191 samples from Ghana based on full mtDNA control region sequences (16024-576); haplogroup nomenclature according to phylotree <xref rid="bib0050" ref-type="bibr">[10]</xref>, build 11.</p></caption><table frame="hsides" rules="groups"><thead><tr><th align="left">Haplogroup</th><th align="left"><italic>N</italic></th><th align="left">Frequency (%)</th></tr></thead><tbody><tr><td align="left">L0a1b1</td><td align="char">1</td><td align="char">0.52</td></tr><tr><td align="left">L1b*</td><td align="char">1</td><td align="char">0.52</td></tr><tr><td align="left">L1b1*</td><td align="char">18</td><td align="char">9.42</td></tr><tr><td align="left">L1b1a</td><td align="char">8</td><td align="char">4.19</td></tr><tr><td align="left">L1c1*</td><td align="char">1</td><td align="char">0.52</td></tr><tr><td align="left">L1c1d</td><td align="char">1</td><td align="char">0.52</td></tr><tr><td align="left">L1c3*</td><td align="char">2</td><td align="char">1.05</td></tr><tr><td align="left">L1c3a</td><td align="char">15</td><td align="char">7.85</td></tr><tr><td align="left">L1c3b1</td><td align="char">4</td><td align="char">2.09</td></tr><tr><td align="left">L2a1′2*</td><td align="char">1</td><td align="char">0.52</td></tr><tr><td align="left">L2a1*</td><td align="char">32</td><td align="char">16.75</td></tr><tr><td align="left">L2a1a1</td><td align="char">1</td><td align="char">0.52</td></tr><tr><td align="left">L2a1a2</td><td align="char">5</td><td align="char">2.62</td></tr><tr><td align="left">L2a1a3</td><td align="char">6</td><td align="char">3.14</td></tr><tr><td align="left">L2a1c1</td><td align="char">2</td><td align="char">1.05</td></tr><tr><td align="left">L2a1c2</td><td align="char">4</td><td align="char">2.09</td></tr><tr><td align="left">L2a1c5</td><td align="char">1</td><td align="char">0.52</td></tr><tr><td align="left">L2a1h</td><td align="char">3</td><td align="char">1.57</td></tr><tr><td align="left">L2a1i</td><td align="char">3</td><td align="char">1.57</td></tr><tr><td align="left">L2a1l</td><td align="char">1</td><td align="char">0.52</td></tr><tr><td align="left">L2b*</td><td align="char">2</td><td align="char">1.05</td></tr><tr><td align="left">L2b1*</td><td align="char">1</td><td align="char">0.52</td></tr><tr><td align="left">L2b1a</td><td align="char">1</td><td align="char">0.52</td></tr><tr><td align="left">L2b2</td><td align="char">5</td><td align="char">2.62</td></tr><tr><td align="left">L2c3</td><td align="char">1</td><td align="char">0.52</td></tr><tr><td align="left">L2e</td><td align="char">1</td><td align="char">0.52</td></tr><tr><td align="left">L3b*</td><td align="char">10</td><td align="char">5.24</td></tr><tr><td align="left">L3b1b</td><td align="char">3</td><td align="char">1.57</td></tr><tr><td align="left">L3b2</td><td align="char">2</td><td align="char">1.05</td></tr><tr><td align="left">L3d*</td><td align="char">2</td><td align="char">1.05</td></tr><tr><td align="left">L3d1c</td><td align="char">2</td><td align="char">1.05</td></tr><tr><td align="left">L3d1d</td><td align="char">2</td><td align="char">1.05</td></tr><tr><td align="left">L3d4</td><td align="char">1</td><td align="char">0.52</td></tr><tr><td align="left">L3e1</td><td align="char">4</td><td align="char">2.09</td></tr><tr><td align="left">L3e2</td><td align="char">2</td><td align="char">1.05</td></tr><tr><td align="left">L3e2a1</td><td align="char">10</td><td align="char">5.24</td></tr><tr><td align="left">L3e2b*</td><td align="char">14</td><td align="char">7.33</td></tr><tr><td align="left">L3e2b3</td><td align="char">1</td><td align="char">0.52</td></tr><tr><td align="left">L3e3</td><td align="char">3</td><td align="char">1.57</td></tr><tr><td align="left">L3e4</td><td align="char">1</td><td align="char">0.52</td></tr><tr><td align="left">L3f1b*</td><td align="char">9</td><td align="char">4.71</td></tr><tr><td align="left">L3f1b1</td><td align="char">1</td><td align="char">0.52</td></tr><tr><td align="left">L3h1b1a1</td><td align="char">1</td><td align="char">0.52</td></tr><tr><td align="left">U6a*</td><td align="char">1</td><td align="char">0.52</td></tr><tr><td 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