title: The impact of modern migrations on present-day multi-ethnic Argentina as recorded on the mitochondrial DNA genome.
abstract: BACKGROUND
  The 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.
  
  
  RESULTS
  Phylogenetic 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.
  
  
  CONCLUSIONS
  Studies 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.
authors: Equipo Argentino de Antropología Forense, Independencia 644 - 5C, Edif.EME1, Córdoba, Argentina.
authors: María Laura
authors: ML
authors: Catelli
authors: Vanesa
authors: V
authors: Alvarez-Iglesias
authors: Alberto
authors: A
authors: Gómez-Carballa
authors: Ana
authors: A
authors: Mosquera-Miguel
authors: Carola
authors: C
authors: Romanini
authors: Alicia
authors: A
authors: Borosky
authors: Jorge
authors: J
authors: Amigo
authors: Angel
authors: A
authors: Carracedo
authors: Carlos
authors: C
authors: Vullo
authors: Antonio
authors: A
authors: Salas
mesh_terms: D017954:Africa South of the Sahara / Q000208:ethnology; D001118:Argentina; D044383:Black People / Q000235:genetics; D004272:DNA, Mitochondrial; D004641:Emigration and Immigration; D005006:Ethnicity / Q000235:genetics; D018740:Genetic Heterogeneity; D006801:Humans; D007198:Indians, North American / Q000235:genetics; D007199:Indians, South American / Q000235:genetics; D007558:Italy / Q000208:ethnology; D008969:Molecular Sequence Data; D010802:Phylogeny; D013030:Spain / Q000208:ethnology; D044465:White People / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial