HUMTH01, HUMVWA31A, HUMCSF1PO and HUMTPOX polymorphisms in Amerindian populations living in the Beni department of Bolivia.

This report presents allele frequency and absolute genotype data of the short tandem repeat (STR) loci HUMTH01, HUMVWA31A, HUMCSF1PO and HUMTPOX for three autochthonous Amerindian populations living in the Beni Department of Bolivia. These related groups are the Quechua, Aymara and Beni populations all living in specific although sometimes overlapping areas that extend from the Andean habitat to the lowland Llanos de Moxos savannah passing through the Piedmont hills. The usefulness of these loci for paternity and identification testing was also examined. The present work completes previous genetic studies performed by the authors in these populations including mtDNA haplogroups (Bert et al., Hum Biol, 73:1-16, 2001) and HVRI data (Bert et al., Ann Hum Biol 31:9-28, 2004; Corella et al., Ann Hum Biol 34:34-35, 2007).

Corella A ，Bert F ，Pérez-Pérez A ，Gené M ，Turbón D ... -  《-》

Mitochondrial DNA diversity in the Llanos de Moxos: Moxo, Movima and Yuracare Amerindian populations from Bolivia lowlands.

Movima, Yuracare, Ignaciano and Trinitario are Amerindian populations living in the Bolivian lowlands of the Amazonian basin. The cultural and genetic affinity of the peoples living in this area is poorly known, despite many archaeological studies demonstrating its importance in pre-Columbian times. Densely populated Amerindian groups occupied the region, both in the Llanos and along the river streams of the Amazonian basin, practising intense agricultural activities and exchange of goods. The historical and linguistic records indicate that the land was occupied through successive migrations that gave rise to complex socio-economic communities. Genetic information suggests that the colonization of the American continent was fairly simple from a emigrational point of view, but other evolutionary processes, such as genetic drift or natural selection, could have also shaped the genetic background of present day populations in the Beni region. The objective of this study is to characterize the genetic diversity of these populations by analysing the sequence variability of the HVR-I control region in the mitochondrial DNA (mtDNA). The Amerindian origin of these populations suggests that close genetic similarities should be evident between the Beni samples studied here and other Amerindian groups. However, complex processes of population interactions and/or isolation in the Beni region might result in non-expected genetic affinities. DNA was extracted from pulled-out hairs obtained in situ from non-closely related individuals living in the Beni Department in Bolivia. DNA was extracted using a standard Chelex 100 method and a 401 bp DNA fragment of the HVR-I region was amplified using specific primers (L-15978 and H-16412). DNA amplicons were purified by centrifugation using Microspin S-300 HR columns and both SNA strands were sequenced after asymmetric PCR using direct Dye-Terminator 2 sequencing kit (Perkin-Elmer). Two independent 401 and 328 bp DNA fragments were sequenced separately for each sample. The sequence analyses includes mismatch distributions and mean pairwise differences, median network analysis, and neighbour joining, maximum likelihood phylogenetic comparisons. Genetic diversity of DNA sequences was also measured in various ways for the sample studied and UPGMA trees were drawn, including a large number of South Amerindian sequences. The genetic diversity of 401 nucleotide long mtDNA sequences in the hypervariable control region, from positions 16,000-16,400, was characterized in a sample of 54 Amerindians living in the Llanos de Moxos. A total of 34 distinct lineages were observed, defined by 41 variable nucleotide positions, and 70.6% of all lineages were single sequences. All four major Amerindian haplogroups were detected (A 18.5%, n=10; B 24.1%, n=13, C 50.0% n=27; and D 5.6%, n=3). The median network analysis observed suggests that processes of population expansion took place in the Beni region. However, no clear haplotype differentiation by population could be detected. High levels of molecular variability and a bimodal pair-wise mismatch distribution were seen within the sample. The analyses of molecular variance (AMOVA) showed that most of the variance observed was due to intrapopulation variability, and that the highest among-groups variance was obtained when a linguistic classification criteria was used. The phylogenetic comparison revealed unique lineages in the Beni areas, not reported for other Amerindian populations. The genetic diversity observed in the Beni area is higher than that observed in other American populations living in much larger areas and with a long, known evolutionary history, despite the reduced area of Moxos. This could result from processes of reproductive isolation between groups, followed by population expansions and migration, where genetic drift might have be a major evolutionary force in population differentiation.

Bert F ，Corella A ，Gené M ，Pérez-Pérez A ，Turbón D ... -  《ANNALS OF HUMAN BIOLOGY》

Mitochondrial DNA diversity of the Amerindian populations living in the Andean Piedmont of Bolivia: Chimane, Moseten, Aymara and Quechua.

Chimane, Moseten Aymara and Quechua are Amerindian populations living in the Bolivian Piedmont, a characteristic ecoregion between the eastern slope of the Andean mountains and the Amazonian Llanos de Moxos. In both neighbouring areas, dense and complex societies have developed over the centuries. The Piedmont area is especially interesting from a human peopling perspective since there is no clear evidence regarding the genetic influence and peculiarities of these populations. This land has been used extensively as a territory of economic and cultural exchange between the Andes and Amazonia, however Chimane and Moseten populations have been sufficiently isolated from their neighbour groups to be recognized as distinct populations. Genetic information suggests that evolutionary processes, such as genetic drift, natural selection and genetic admixture have formed the history of the Piedmont populations. The objective of this study is to characterize the genetic diversity of the Piedmont populations, analysing the sequence variability of the HVR-I control region in the mitochondrial DNA (mtDNA). Haplogroup mtDNA data available from the whole of Central and South America were utilized to determine the relationship of the Piedmont populations with other Amerindian populations. Hair pulls were obtained in situ, and DNA from non-related individuals was extracted using a standard Chelex 100 method. A 401 bp DNA fragment of HVR-I region was amplified using standard procedures. Two independent 401 and 328 bp DNA fragments were sequenced separately for each sample. The sequence analyses included mismatch distribution and mean pairwise differences, median network analyses, AMOVA and principal component analyses. The genetic diversity of DNA sequences was measured and compared with other South Amerindian populations. The genetic diversity of 401 nucleotide mtDNA sequences, in the hypervariable Control Region, from positions 16 000-16 400, was characterized in a sample of 46 Amerindians living in the Piedmont area in the Beni Department of Bolivia. The results obtained indicate that the genetic diversity in the area is higher than that observed in other American groups living in much larger areas and despite the reduced size of the studied area the human groups analysed show high levels of inter-group variability. In addition, results show that Amerindian populations living in the Piedmont are genetically more related to those in the Andean than in the Amazonian populations.

Corella A ，Bert F ，Pérez-Pérez A ，Gené M ，Turbón D ... -  《ANNALS OF HUMAN BIOLOGY》

Quechua Amerindian population characterized by HLA-DQ alpha, YNZ22, 3'APO B, HUMTH01, and HUMVWA31A polymorphisms.

Allele and genotype frequencies of DNA polymorphisms were determined in a population sample of Quechua (n = 113) using the polymerase chain reaction (PCR). We report data on the frequencies of HLA-DQ alpha, YNZ22, 3'ApoB, HUMTH01 and HUMVWA31A alleles and the distribution of the different genotypes. No significant deviations between observed and expected numbers were found, thus assuming the Hardy-Weinberg equilibrium.

Gené M ，Fuentes M ，Huguet E ，Piqué E ，Bert F ，Corella A ，Pérez-Pérez A ，Corbella J ，Moreno P ... -  《JOURNAL OF FORENSIC SCIENCES》

The Bubi population of Equatorial Guinea characterised by HUMTH01, HUMVWA31A, HUMCSF1PO, HUMTPOX, D3S1358, D8S1179, D18S51 and D19S253 STR polymorphisms.

Allele frequencies for eight STR loci (HUMTH01, HUMVWA31A, HUMCSF1PO, HUMTPOX, D3S1358, D8S1179, D18S51, D19S253) have been analysed in the Bubi population of Bioko Island, Equatorial Guinea. For all loci, no deviation from Hardy-Weinberg equilibrium was found. Data obtained were compared with that of Caucasian and African populations. Significant differences were found for all systems between all the black populations compared and the Caucasoid population. Similarities were observed between the Bubi and Zimbabweans, and also with African American populations. Also, more affinities were observed between Zimbabweans and Ugandans and Ovambos than between these groups and the Bubi population. From these comparisons it is suggested that in Africa, as in other continents, there is a certain genetic heterogeneity.

Gené M ，Moreno P ，Borrego N ，Piqué E ，Brandt C ，Mas J ，Luna M ，Corbella J ，Huguet E ... -  《INTERNATIONAL JOURNAL OF LEGAL MEDICINE》