Genetic Diversity in an Andean Population from Peru and Regional Migration Patterns of Amerindians in South America: Data from Y Chromosome and Mitochondrial DNA

Abstract

The genetic variability of a Quechua-speaking Andean population from Peru was examined on the basis of four Y chromosome markers and restriction sites that define the Amerindian mitochondrial DNA (mtDNA) haplogroups. Forty-nine out of 52 (90.4%) individuals had mtDNA which belonged to one of the four common Amerindian haplogroups, with 54% of the samples belonging to haplogroup B. Among 25 males, 12 had an Amerindian Y chromosome, which exists as four haplotypes defined on the basis of the DYS287, DYS199, DYS392 and DYS19 markers, three of which are shared by Amazonian Amerindians. Thus, there is a clear directionality of marriages, with an estimated genetic admixture with non-Amerindians that is 9 times lower for mtDNA than for Y chromosome DNA. The comparison of mtDNA of Andean Amerindians with that of people from other regions of South America in a total of 1,086 individuals demonstrates a geographical pattern, with a decreasing frequency of A and C haplotypes and increasing frequency of the D haplotype from the north of the Amazon River to the south of the Amazon River, reaching the lowest and the highest frequencies, respectively, in the more southern populations of Chile and Argentina. Conversely, the highest and lowest frequencies of the haplogroup B are found, respectively, in the Andean and the North Amazon regions, and it is absent from some southern populations, suggesting that haplotypes A, C and D, and haplotype B may have been dispersed by two different migratory routes within the continent.

Identification of Whole Mitochondrial Genomes from Venezuela and Implications on Regional Phylogenies in South America

“…Control region mtDNA typing of 114 maternally unrelated individuals showed that haplotypes were assigned to the four Native Americans haplogroups A2, B2, C1, and D1. Preliminary results showed a higher frequency of haplogroup C1 among the Yekuana (61%) that resembles other Northern 6 Amazonian groups and a lower frequency of haplogroup B2 (5%), which is consistent with the broader genetic pattern in Amazonia as well as in South America (Easton et al 1996;Lee 2009;Rodriguez-Delfin et al 2001;Vona et al 2005). All four haplogroups were identified in the village of Sharamaña and in order to further examine the four haplogroups in the broader context of South American phylogenies, all twelve haplotypes from the village were selected for whole mtDNA genome analysis.…”

Is the genetic structure of Gran Chaco populations unique? Interregional perspectives on native South American mitochondrial DNA variation

“…Thus, early characterizations of genetic patterns in South America tended to assume that a pattern of high between-population differentiation essentially described the entire continent. More recent characterizations hypothesize an east-west continental divide in genetic variation, with the west (i.e., Central and Southern Andean populations) being considerably more undifferentiated and homogenous than the east (i.e., Amazonian populations) (Fuselli et al, 2003;Lewis et al, 2005;Luiselli et al, 2000;Rodríguez-Delfin et al, 2001;TarazonaSantos et al, 2001). Fuselli et al (2003), following Tarazona- Santos et al (2001), suggested that this east-west regional divide was due to independent evolutionary dynamics.…”

Mitochondrial DNA analysis of ancient Peruvian highlanders

“…10.0% (7) 50.0% (35) 14.3% (10) 21.4% (15) 4.3% (3) Merriwether et al (1995), Rodriguez-Delfin et al (1999) Contemporary Central Andean (Ancash) 9.1% (3) 51.5% (17) 18.2% (6) 21.2% (7) 0% (0) Lewis et al (2004) Contemporary Central Andean (Aymara) 6.4% (11) 67.4% (116) 12.2% (21) 14.0% (24) 0% (0) Merriwether et al (1995) Contemporary Central Andean (Atacameñ os)…”