RT Journal Article
T1 The impact of modern migrations on present-day multi-ethnic Argentina as recorded on the mitochondrial DNA genome
A1 Catelli, María Laura
A1 Álvarez Iglesias, Vanesa
A1 Gómez Carballa, Alberto
A1 Mosquera Miguel, Ana
A1 Romanini, Carola
A1 Borosky, Alicia
A1 Amigo Lechuga, Jorge
A1 Carracedo Álvarez, Ángel
A1 Vullo, Carlos
A1 Salas Ellacuriaga, Antonio
K1 Haplotype Sharing
K1 Admix Population
K1 Admixture Analysis
K1 European Immigrant
K1 African Slave
AB BackgroundThe genetic background of Argentineans is a mosaic of different continental ancestries. From colonial to present times, the genetic contribution of Europeans and sub-Saharan Africans has superposed to or replaced the indigenous genetic 'stratum'. A sample of 384 individuals representing different Argentinean provinces was collected and genotyped for the first and the second mitochondrial DNA (mtDNA) hypervariable regions, and selectively genotyped for mtDNA SNPs. This data was analyzed together with additional 440 profiles from rural and urban populations plus 304 from Native American Argentineans, all available from the literature. A worldwide database was used for phylogeographic inferences, inter-population comparisons, and admixture analysis. Samples identified as belonging to hg (hg) H2a5 were sequenced for the entire mtDNA genome.ResultsPhylogenetic and admixture analyses indicate that only half of the Native American component in urban Argentineans might be attributed to the legacy of extinct ancestral Argentineans and that the Spanish genetic contribution is slightly higher than the Italian one. Entire H2a5 genomes linked these Argentinean mtDNAs to the Basque Country and improved the phylogeny of this Basque autochthonous clade. The fingerprint of African slaves in urban Argentinean mtDNAs was low and it can be phylogeographically attributed predominantly to western African. The European component is significantly more prevalent in the Buenos Aires province, the main gate of entrance for Atlantic immigration to Argentina, while the Native American component is larger in North and South Argentina. AMOVA, Principal Component Analysis and hgs/haplotype patterns in Argentina revealed an important level of genetic sub-structure in the country.ConclusionsStudies aimed to compare mtDNA frequency profiles from different Argentinean geographical regions (e.g., forensic and case-control studies) should take into account the important genetic heterogeneity of the country in order to prevent false positive claims of association in disease studies or inadequate evaluation of forensic evidence.
PB BioMed Central
SN 1471-2156
YR 2011
FD 2011
LK http://hdl.handle.net/10347/23003
UL http://hdl.handle.net/10347/23003
LA eng
NO Catelli, M.L., Álvarez-Iglesias, V., Gómez-Carballa, A. et al. The impact of modern migrations on present-day multi-ethnic Argentina as recorded on the mitochondrial DNA genome. BMC Genet 12, 77 (2011). https://doi.org/10.1186/1471-2156-12-77
NO We would like to thank the donors for their participation in the presentproject. This project was supported by grants from “Fundación deInvestigación Médica Mutua Madrileña” (2008/CL444) and “Ministerio deCiencia e Innovación” (SAF2008-02971) given to AS. The project was alsopartially supported by “Argentinean Government, Agencia de CooperaciónEspañola para el desarrollo and European Union”.
DS Minerva
RD 24 abr 2026