title: Mitochondrial DNA diversity in a population from Santa Catarina (Brazil): predominance of the European input.
abstract: The state of Santa Catarina (Brazil) is known to have represented a cultural crossroads in South America due to several historic migrations mainly from Europe and Africa. We set out to scrutinize whether the genetic imprint of these migrations could be traced through analysis of the matrilineal gene pool of the Catarinenses. The entire control region of the mitochondrial DNA was studied in 80 healthy and maternally unrelated individuals. The analysis of haplogroup distribution revealed that this population is extremely heterogeneous, showing the coexistence of matrilineal lineages with three different phylogeographic origins. European lineages are the most frequent due mainly to the impact of relatively recent migratory waves from Europe. In spite of this, Native American lineages and African lineages incorporated with the slave trade are also present in noticeable proportions. The strikingly high variability generated by intense gene flow is mirrored in a high sequence diversity (0.9930) and power of discrimination (0.9806). Thus, analysis of the entire mitochondrial DNA control region emerges as a valuable tool for forensic genetic purposes in this highly admixed population, an attribute common to several present-day Latin American populations.
authors.affiliation: BIOMICs Research Group, Centro de Investigación y Estudios Avanzados Lucio Lascaray, Universidad del País Vasco UPV/EHU, Miguel de Unamuno 3, 01006 Vitoria-Gasteiz, Spain.
authors.forename: Leire
authors.initials: L
authors.lastname: Palencia
authors.forename: Laura
authors.initials: L
authors.lastname: Valverde
authors.forename: Alejandra
authors.initials: A
authors.lastname: Alvarez
authors.forename: Laura M
authors.initials: LM
authors.lastname: Cainé
authors.forename: Sergio
authors.initials: S
authors.lastname: Cardoso
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Alfonso-Sánchez
authors.forename: M Fátima
authors.initials: MF
authors.lastname: Pinheiro
authors.forename: Marian M
authors.initials: MM
authors.lastname: de Pancorbo
mesh_terms: D001938:Brazil; D022801:Complementarity Determining Regions / Q000235:genetics; D016172:DNA Fingerprinting; D004272:DNA, Mitochondrial / Q000235:genetics*; D004641:Emigration and Immigration; D005060:Europe; D005787:Gene Frequency; D005828:Genetics, Population; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D044469:Racial Groups / Q000235:genetics; D020080:Tandem Repeat Sequences
chemical_list: D022801:Complementarity Determining Regions; D004272:DNA, Mitochondrial