Publications by authors named "Carlos Vullo"

24 Publications

  • Page 1 of 1

Allele frequency data for 23 aSTR for different ethnic groups from Republic of Zimbabwe.

Int J Legal Med 2021 Feb 8. Epub 2021 Feb 8.

LIDMO, EME1, Independencia 644,4A, Córdoba, Argentina.

In order to determine the population allele frequencies of autosomal STR markers of forensic interest in the Zimbabwean population, we analyzed a sample of 478 individuals from 19 different ethnic groups using the PowerPlex® Fusion 6C Kit (Promega Corp, Madison, Wisconsin). The data obtained were compared among the different Zimbabwean ethnic groups as well as with several African populations to establish whether significant differences exist among them. No significant differences were found among the ethnic groups in Zimbabwe. Statistically significant differences were observed between allele frequencies in Zimbabwe and some other African populations, although F with neighboring Bantu populations from South and Southeast regions were low (below 0.005 in most single locus comparisons).
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http://dx.doi.org/10.1007/s00414-021-02514-1DOI Listing
February 2021

Evaluation of mitogenome sequence concordance, heteroplasmy detection, and haplogrouping in a worldwide lineage study using the Precision ID mtDNA Whole Genome Panel.

Forensic Sci Int Genet 2019 09 23;42:244-251. Epub 2019 Jul 23.

Institute of Legal Medicine, Medical University of Innsbruck, Innsbruck, Austria; Forensic Science Program, The Pennsylvania State University, University Park, PA, USA. Electronic address:

The emergence of Massively Parallel Sequencing technologies enabled the analysis of full mitochondrial (mt)DNA sequences from forensically relevant samples that have, so far, only been typed in the control region or its hypervariable segments. In this study, we evaluated the performance of a commercially available multiplex-PCR-based assay, the Precision ID mtDNA Whole Genome Panel (Thermo Fisher Scientific), for the amplification and sequencing of the entire mitochondrial genome (mitogenome) from even degraded forensic specimens. For this purpose, more than 500 samples from 24 different populations were selected to cover the vast majority of established superhaplogroups. These are known to harbor different signature sequence motifs corresponding to their phylogenetic background that could have an effect on primer binding and, thus, could limit a broad application of this molecular genetic tool. The selected samples derived from various forensically relevant tissue sources and were DNA extracted using different methods. We evaluated sequence concordance and heteroplasmy detection and compared the findings to conventional Sanger sequencing as well as an orthogonal MPS platform. We discuss advantages and limitations of this approach with respect to forensic genetic workflow and analytical requirements.
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http://dx.doi.org/10.1016/j.fsigen.2019.07.013DOI Listing
September 2019

The maternal inheritance of Alto Paraná revealed by full mitogenome sequences.

Forensic Sci Int Genet 2019 03 19;39:66-72. Epub 2018 Dec 19.

Institute of Legal Medicine, Medical University of Innsbruck, Innsbruck, Austria; Forensic Science Program, The Pennsylvania State University, PA, USA. Electronic address:

Most studies on maternal lineages of South America populations are restricted to control region (CR) markers and, for some geographical regions, the number of studied samples does not adequately represent the existing diversity. This is the case of mitochondrial DNA (mtDNA) studies on Paraguay that are limited to two Native ethnic groups. To overcome this deficiency, we analysed the mitogenomes from 105 individuals living in Alto Paraná, the second most populated department of the country. Using the Precision ID mtDNA Whole Genome Panel, the molecule was sequenced on Ion S5. The majority of the haplotypes belong to the Native American lineages A, B, C and D. Analyses of maximum parsimony using mitogenome data retrieved from publications and in The 1000 Genomes Project showed a high number of new native American subclades in Paraguay. Also, none of the haplotypes found in Alto Paraná match the remaining South American samples, which include admixed populations from Colombia, Peru and Ecuador, and natives from Colombia and Ecuador. F genetic distance analysis showed that the native genetic background of Alto Paraná has an intermediate position between the Amazonian groups and the admixed populations from Peru and Ecuador, supporting the theory about the Amazonian origin of the Tupi-Guarani and, at the same time, showing the influence of other linguistic groups.
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http://dx.doi.org/10.1016/j.fsigen.2018.12.007DOI Listing
March 2019

Early human dispersals within the Americas.

Science 2018 12 8;362(6419). Epub 2018 Nov 8.

Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, 1350 Copenhagen, Denmark.

Studies of the peopling of the Americas have focused on the timing and number of initial migrations. Less attention has been paid to the subsequent spread of people within the Americas. We sequenced 15 ancient human genomes spanning from Alaska to Patagonia; six are ≥10,000 years old (up to ~18× coverage). All are most closely related to Native Americans, including those from an Ancient Beringian individual and two morphologically distinct "Paleoamericans." We found evidence of rapid dispersal and early diversification that included previously unknown groups as people moved south. This resulted in multiple independent, geographically uneven migrations, including one that provides clues of a Late Pleistocene Australasian genetic signal, as well as a later Mesoamerican-related expansion. These led to complex and dynamic population histories from North to South America.
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http://dx.doi.org/10.1126/science.aav2621DOI Listing
December 2018

Analysis of 23 Y-STRs in a population sample from eastern Paraguay.

Forensic Sci Int Genet 2018 11 15;37:e20-e22. Epub 2018 Aug 15.

DNA Diagnostic Laboratory (LDD), State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.fsigen.2018.08.007DOI Listing
November 2018

Investigator HDplex (Qiagen) reference population database for forensic use in Argentina.

Forensic Sci Int Genet 2017 01 18;26:91-95. Epub 2016 Oct 18.

PRICAI-Fundación Favaloro, Buenos Aires, Argentina. Electronic address:

Currently, autosomal Short Tandem Repeat (STR) markers represent the method of election in forensic human identification. Commercial kits of most common use nowadays -e.g. PowerPlexFusion, Promega Corp.; AmpFlSTR GlobalFiler, Thermofisher scientific; Investigator 24Plex QS,Qiagen-, allow the co-amplification of 23 highly polymorphic STR loci providing a high discrimination power in human identity testing. However, in complex kinship analysis and familial database searches involving distant relationships, additional DNA typing is often required in order to achieve well-founded conclusions. The recently developed kit Investigator HDplex (Qiagen) co-amplify twelve autosomal STRs markers (D7S1517, D3S1744, D12S391, D2S1360, D6S474, D4S2366, D8S1132, D5S2500, D18S51, D21S2055, D10S2325, SE33), nine of which are not present in the above mentioned kits, providing a set of efficient supplementary markers for human identification purposes. In this study we genotyped a sample of 980 individuals from urban areas of ten Argentinean provinces using the Investigator HDplex kit, aiming to provide forensic estimates for use in forensic casework and parentage testing in Argentina. We report reference allelic frequency databases for each of the provinces studied as well as for the combined samples. No deviation of Hardy-Weinberg equilibrium was observed. A reasonable discrimination capacity and power of exclusion was estimated which allowed predicting an acceptable forensic behavior of this kit, either to be used as the main STR panel for simple cases or as an auxiliary tool in complex cases. Additionally, population comparison tests showed that the studied samples are relatively homogeneous across the country for these STR set.
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http://dx.doi.org/10.1016/j.fsigen.2016.10.009DOI Listing
January 2017

Genetic polymorphism of 22 autosomal STR markers in Paraguay.

Forensic Sci Int Genet 2016 11 8;25:e16-e17. Epub 2016 Aug 8.

Laboratorio de Inmunogenética y Diagnóstico Molecular, Edif EME1, Independencia 644, 4(a), Córdoba, 5000, Argentina.

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http://dx.doi.org/10.1016/j.fsigen.2016.08.002DOI Listing
November 2016

Y Chromosome STR haplotypes in different ethnic groups of Vietnam.

Forensic Sci Int Genet 2016 May 15;22:e18-e20. Epub 2016 Feb 15.

DNA Diagnostic Laboratory (LDD), State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil; IPATIMUP-Institute of Molecular Pathology and Immunology of the University of Porto, Portugal; Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.fsigen.2016.02.007DOI Listing
May 2016

GHEP-ISFG collaborative simulated exercise for DVI/MPI: Lessons learned about large-scale profile database comparisons.

Forensic Sci Int Genet 2016 Mar 8;21:45-53. Epub 2015 Dec 8.

International Commission for Missing Persons (ICMP), USA.

The GHEP-ISFG Working Group has recognized the importance of assisting DNA laboratories to gain expertise in handling DVI or missing persons identification (MPI) projects which involve the need for large-scale genetic profile comparisons. Eleven laboratories participated in a DNA matching exercise to identify victims from a hypothetical conflict with 193 missing persons. The post mortem database was comprised of 87 skeletal remain profiles from a secondary mass grave displaying a minimal number of 58 individuals with evidence of commingling. The reference database was represented by 286 family reference profiles with diverse pedigrees. The goal of the exercise was to correctly discover re-associations and family matches. The results of direct matching for commingled remains re-associations were correct and fully concordant among all laboratories. However, the kinship analysis for missing persons identifications showed variable results among the participants. There was a group of laboratories with correct, concordant results but nearly half of the others showed discrepant results exhibiting likelihood ratio differences of several degrees of magnitude in some cases. Three main errors were detected: (a) some laboratories did not use the complete reference family genetic data to report the match with the remains, (b) the identity and/or non-identity hypotheses were sometimes wrongly expressed in the likelihood ratio calculations, and (c) many laboratories did not properly evaluate the prior odds for the event. The results suggest that large-scale profile comparisons for DVI or MPI is a challenge for forensic genetics laboratories and the statistical treatment of DNA matching and the Bayesian framework should be better standardized among laboratories.
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http://dx.doi.org/10.1016/j.fsigen.2015.11.004DOI Listing
March 2016

The complete mitogenome of a 500-year-old Inca child mummy.

Sci Rep 2015 Nov 12;5:16462. Epub 2015 Nov 12.

Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Ciencias Forenses, Grupo de Medicina Xenómica (GMX), Facultade de Medicina, Universidade de Santiago de Compostela, 15872, Galicia, Spain.

In 1985, a frozen mummy was found in Cerro Aconcagua (Argentina). Archaeological studies identified the mummy as a seven-year-old Inca sacrifice victim who lived >500 years ago, at the time of the expansion of the Inca Empire towards the southern cone. The sequence of its entire mitogenome was obtained. After querying a large worldwide database of mitogenomes (>28,000) we found that the Inca haplotype belonged to a branch of haplogroup C1b (C1bi) that has not yet been identified in modern Native Americans. The expansion of C1b into the Americas, as estimated using 203 C1b mitogenomes, dates to the initial Paleoindian settlements (~18.3 thousand years ago [kya]); however, its internal variation differs between Mesoamerica and South America. By querying large databases of control region haplotypes (>150,000), we found only a few C1bi members in Peru and Bolivia (e.g. Aymaras), including one haplotype retrieved from ancient DNA of an individual belonging to the Wari Empire (Peruvian Andes). Overall, the results suggest that the profile of the mummy represents a very rare sub-clade that arose 14.3 (5-23.6) kya and could have been more frequent in the past. A Peruvian Inca origin for present-day C1bi haplotypes would satisfy both the genetic and paleo-anthropological findings.
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http://dx.doi.org/10.1038/srep16462DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4642457PMC
November 2015

Characterization of 5' promoter and exon 1-3 polymorphism of the RAET1E gene.

Hum Immunol 2016 Jan 28;77(1):96-103. Epub 2015 Oct 28.

Anthony Nolan Research Institute, Royal Free Hospital, Hampstead, London NW3 2QU, UK; UCL Cancer Institute, Royal Free Campus, London NW3 2QG, UK.

NKG2D is an activating receptor utilized by natural killer (NK) cells that recognizes upregulated ligands on infected, tumorigenic and damaged cells, leading to their cytolysis. However, the NKG2D ligand (NKG2DL) system is very complex with eight known gene loci encoding slightly different molecules. Furthermore, most NKG2DL gene loci such as MICA and MICB are highly polymorphic with potential for functional differences. NKG2DL expression on tumors varies depending on the malignancy and tumors can also release soluble NKG2DL that exert anergic effects on NK cells when engagement with NKG2D occurs, allowing escape from NK cell immunosurveillance. We carried out RAET1E typing of IHW cell line DNA, including a 580 bp proximal promoter fragment and exons 1-3 identifying 13 of 15 known RAET1E alleles. We determined 7 polymorphisms within the promoter region, including 2 already known that contributed to 9 promoter types. RAET1E alleles with variability in the extracellular region also differed with respect to promoter type and one allele, RAET1E(∗)003, associated with 5 promoter types. We then identified putative transcription factor binding sites for RAET1E, and found 5 of the 7 promoter polymorphisms may disrupt these sites, abrogating binding of transcription factors and varying the potential level of expression.
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http://dx.doi.org/10.1016/j.humimm.2015.10.017DOI Listing
January 2016

A comprehensive Y-STR portrait of Argentinean populations.

Forensic Sci Int Genet 2016 Jan 8;20:1-5. Epub 2015 Sep 8.

Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Ciencias Forenses, Grupo de Medicina Xenómica (GMX), Facultade de Medicina, Universidade de Santiago de Compostela, 15872 Galicia, Spain. Electronic address:

A study of 23 Y-STRs was conducted in 257 individuals living in urban areas from eight Argentinean provinces. The data were meta-analyzed together with 364 profiles obtained from the literature that represent other five provinces. A total of 255 different haplotypes were observed (253 singletons). Genetic structure estimated from analysis of molecular variance (AMOVA) and exploring different grouping scenarios, yielded high within population variance. Not surprisingly, analyses of genetic distances with respect to main ancestral continental populations indicated Argentinean haplotypes to be closely related to European ones. Overall, these results provide a quite complete picture of the patterns of Y chromosome variation in Argentina, notably contributing to increase the previous national database, and consequently allowing a better estimation of parameters of interest in forensic casework and parentage testing.
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http://dx.doi.org/10.1016/j.fsigen.2015.09.002DOI Listing
January 2016

Ancestry informative markers: inference of ancestry in aged bone samples using an autosomal AIM-Indel multiplex.

Forensic Sci Int Genet 2015 May 5;16:58-63. Epub 2014 Dec 5.

Forensic DNA Laboratory, Argentinean Forensic Anthropology Team (EAAF) Independencia 644,3A, 5000 Cordoba, Argentina. Electronic address:

Ancestry informative markers (AIMs) can be useful to infer ancestry proportions of the donors of forensic evidence. The probability of success typing degraded samples, such as human skeletal remains, is strongly influenced by the DNA fragment lengths that can be amplified and the presence of PCR inhibitors. Several AIM panels are available amongst the many forensic marker sets developed for genotyping degraded DNA. Using a 46 AIM Insertion Deletion (Indel) multiplex, we analyzed human skeletal remains of post mortem time ranging from 35 to 60 years from four different continents (Sub-Saharan Africa, South and Central America, East Asia and Europe) to ascertain the genetic ancestry components. Samples belonging to non-admixed individuals could be assigned to their corresponding continental group. For the remaining samples with admixed ancestry, it was possible to estimate the proportion of co-ancestry components from the four reference population groups. The 46 AIM Indel set was informative enough to efficiently estimate the proportion of ancestry even in samples yielding partial profiles, a frequent occurrence when analyzing inhibited and/or degraded DNA extracts.
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http://dx.doi.org/10.1016/j.fsigen.2014.11.025DOI Listing
May 2015

Forensic population data for 20 STR loci in Argentina.

Forensic Sci Int Genet 2014 Nov 21;13:e20-1. Epub 2014 Jul 21.

LIDMO, Córdoba, Argentina. Electronic address:

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http://dx.doi.org/10.1016/j.fsigen.2014.07.008DOI Listing
November 2014

Association between Y haplogroups and autosomal AIMs reveals intra-population substructure in Bolivian populations.

Int J Legal Med 2015 Jul 31;129(4):673-80. Epub 2014 May 31.

DNA Forensic Laboratory, Argentinean Forensic Anthropology Team (EAAF), Córdoba, Argentina.

For the correct evaluation of the weight of genetic evidence in a forensic context, databases must reflect the structure of the population, with all possible groups being represented. Countries with a recent history of admixture between strongly differentiated populations are usually highly heterogeneous and sub-structured. Bolivia is one of these countries, with a high diversity of ethnic groups and different levels of admixture (among Native Americans, Europeans and Africans) across the territory. For a better characterization of the male lineages in Bolivia, 17 Y-STR and 42 Y-SNP loci were genotyped in samples from La Paz and Chuquisaca. Only European and Native American Y-haplogroups were detected, and no sub-Saharan African chromosomes were found. Significant differences were observed between the two samples, with a higher frequency of European lineages in Chuquisaca than in La Paz. A sample belonging to haplogroup Q1a3a1a1-M19 was detected in La Paz, in a haplotype background different from those previously found in Argentina. This result supports an old M19 North-south dispersion in South America, possibly via two routes. When comparing the ancestry of each individual assessed through his Y chromosome with the one estimated using autosomal AIMs, (a) increased European ancestry in individuals with European Y chromosomes and (b) higher Native American ancestry in the carriers of Native American Y-haplogroups were observed, revealing an association between autosomal and Y-chromosomal markers. The results of this study demonstrate that a sub-structure does exist in Bolivia at both inter- and intrapopulation levels, a fact which must be taken into account in the evaluation of forensic genetic evidence.
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http://dx.doi.org/10.1007/s00414-014-1025-xDOI Listing
July 2015

Ancestry analysis reveals a predominant Native American component with moderate European admixture in Bolivians.

Forensic Sci Int Genet 2013 Sep 11;7(5):537-42. Epub 2013 Jul 11.

Unidade de Xenética, Instituto de Ciencias Forenses and Departamento de Anatomía Patolóxica e Ciencias Forenses, Grupo de Medicina Xenómica, Facultade de Medicina, Universidade de Santiago de Compostela, 15872, Galicia, Spain.

We have genotyped 46 Ancestry Informative Markers (AIMs) in two of the most populated areas in Bolivia, namely, La Paz (Andean region; n=105), and Chuquisaca (Sub-Andean region; n=73). Using different analytical tools, we inferred admixture proportions of these two American communities by comparing the genetic profiles with those publicly available from the CEPH (Centre d'Etude du Polymorphisme Humain) panel representing three main continental groups (Africa, Europe, and America). By way of simulations, we first evaluated the minimum sample size needed in order to obtain accurate estimates of ancestry proportions. The results indicated that sample sizes above 30 individuals could be large enough to estimate main continental ancestry proportions using the 46 AIMs panel. With the exception of a few individuals, the results also indicated that Bolivians showed a predominantly Native American ancestry with variable levels of European admixture. The proportions of ancestry were statistically different in La Paz and Chuquisaca: the Native American component was 86% and 77% (Mann-Whitney U-test: un-adjusted P-value=2.1×10(-5)), while the European ancestry was 13% and 21% (Mann-Whitney U-test: un-adjusted P-value=3.6×10(-5)), respectively. The African ancestry in Bolivians captured by the AIMs analyzed in the present study was below 2%. The inferred ancestry of Bolivians fits well with previous studies undertaken on haplotype data, indicating a major proportion of Native American lineages. The genetic differences observed in these two groups suggest that forensic genetic analysis should be better performed based on local databases built in the main Bolivian areas.
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http://dx.doi.org/10.1016/j.fsigen.2013.05.012DOI Listing
September 2013

The genetic legacy of the pre-colonial period in contemporary Bolivians.

PLoS One 2013 20;8(3):e58980. Epub 2013 Mar 20.

Unidade de Xenética, Instituto de Ciencias Forenses and Departamento de Anatomía Patolóxica e Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain.

Only a few genetic studies have been carried out to date in Bolivia. However, some of the most important (pre)historical enclaves of South America were located in these territories. Thus, the (sub)-Andean region of Bolivia was part of the Inca Empire, the largest state in Pre-Columbian America. We have genotyped the first hypervariable region (HVS-I) of 720 samples representing the main regions in Bolivia, and these data have been analyzed in the context of other pan-American samples (>19,000 HVS-I mtDNAs). Entire mtDNA genome sequencing was also undertaken on selected Native American lineages. Additionally, a panel of 46 Ancestry Informative Markers (AIMs) was genotyped in a sub-set of samples. The vast majority of the Bolivian mtDNAs (98.4%) were found to belong to the main Native American haplogroups (A: 14.3%, B: 52.6%, C: 21.9%, D: 9.6%), with little indication of sub-Saharan and/or European lineages; however, marked patterns of haplogroup frequencies between main regions exist (e.g. haplogroup B: Andean [71%], Sub-Andean [61%], Llanos [32%]). Analysis of entire genomes unraveled the phylogenetic characteristics of three Native haplogroups: the pan-American haplogroup B2b (originated ∼21.4 thousand years ago [kya]), A2ah (∼5.2 kya), and B2o (∼2.6 kya). The data suggest that B2b could have arisen in North California (an origin even in the north most region of the American continent cannot be disregarded), moved southward following the Pacific coastline and crossed Meso-America. Then, it most likely spread into South America following two routes: the Pacific path towards Peru and Bolivia (arriving here at about ∼15.2 kya), and the Amazonian route of Venezuela and Brazil southwards. In contrast to the mtDNA, Ancestry Informative Markers (AIMs) reveal a higher (although geographically variable) European introgression in Bolivians (25%). Bolivia shows a decreasing autosomal molecular diversity pattern along the longitudinal axis, from the Altiplano to the lowlands. Both autosomes and mtDNA revealed a low impact (1-2%) of a sub-Saharan component in Bolivians.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0058980PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3604014PMC
September 2013

RAET1/ULBP alleles and haplotypes among Kolla South American Indians.

Hum Immunol 2013 Jun 13;74(6):775-82. Epub 2013 Feb 13.

The Anthony Nolan Research Institute, The Royal Free Hospital, Hampstead, London, UK.

NK cell cytolysis of infected or transformed cells can be mediated by engagement of the activating immunoreceptor NKG2D with one of eight known ligands (MICA, MICB and RAET1E-N) and is essential for innate immunity. As well as diversity of NKG2D ligands having the same function, allelic polymorphism and ethnic diversity has been reported. We previously determined HLA class I allele and haplotype frequencies in Kolla South American Indians who inhabit the northwest provinces of Argentina, and were found to have a similar restricted allelic profile to other South American Indians and novel alleles not seen in other tribes. In our current study, we characterized retinoic acid early transcription-1 (RAET1) alleles by sequencing 58 unrelated Kolla people. Only three of six RAET1 ligands were polymorphic. RAET1E was most polymorphic with five alleles in the Kolla including an allele we previously described, RAET1E*009 (allele frequency (AF) 5.2%). Four alleles of RAET1L were also found and RAET1E*002 was most frequent (AF=78%). Potential functional diversity only affected RAET1E and RAET1L, which were in linkage disequilibrium indicating a selective advantage. The results suggest that limited RAET1 polymorphism in the Kolla was not detrimental to human survival but still necessary and may affect disease susceptibility or severity.
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http://dx.doi.org/10.1016/j.humimm.2013.01.030DOI Listing
June 2013

The impact of modern migrations on present-day multi-ethnic Argentina as recorded on the mitochondrial DNA genome.

BMC Genet 2011 Aug 30;12:77. Epub 2011 Aug 30.

Equipo Argentino de Antropología Forense, Independencia 644 - 5C, Edif.EME1, Córdoba, Argentina.

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.
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http://dx.doi.org/10.1186/1471-2156-12-77DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3176197PMC
August 2011

Mycetoma of the scalp due to Microsporum canis: hystopathologic, mycologic, and immunogenetic features in a 6-year-old girl.

Diagn Microbiol Infect Dis 2011 May;70(1):145-9

Departamento de Bioquímica Clínica, Facultad de Ciencias Químicas, Centro de Investigaciones en Bioquímica Clínica e Inmunología, CONICET, Universidad Nacional de Córdoba, Córdoba 5000, Argentina.

Dermatophytic mycetoma is an extremely rare subcutaneous mycosis. Here, we report the case of a 6-year-old girl with clinical, histologic, and mycologic findings consistent with a mycetoma of the scalp caused by Microsporum canis. To our knowledge, this is the first report showing the immunologic and immunogenetic features of a patient with a recalcitrant dermatophytic mycetoma.
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http://dx.doi.org/10.1016/j.diagmicrobio.2011.02.003DOI Listing
May 2011

Frequency data for 12 mini STR loci in Argentina.

Forensic Sci Int Genet 2010 Apr 8;4(3):e79-81. Epub 2009 Jul 8.

LIDMO, Independencia 644- 4to A, 5000 Córdoba, Argentina.

Allele frequencies and forensic parameters for twelve miniSTR autosomal loci (D10S1248, D14S1434, D22S1045, D4S2364, D2S441, D1S1677, D20S480, D6S2439, D6S1056, D9S1118, D4S2639 and D17S1290) were calculated from a sample of 506 unrelated individuals from the Central-East Region of Argentina. No significant deviations from Hardy-Weinberg expectations were found. Furthermore, comparisons with other previously studied populations were made. These twelve miniSTR markers may help forensic laboratories in solving parentage testing as well as in typing degraded DNA samples.
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http://dx.doi.org/10.1016/j.fsigen.2009.06.006DOI Listing
April 2010

Analysis of 17 STR loci in different provinces of Argentina.

Forensic Sci Int Genet 2009 Jun 2;3(3):e93-5. Epub 2008 Oct 2.

LIDMO-Independencia 644, 4A-5000 Córdoba, Argentina.

The allelic distribution of seventeen short tandem repeat (STR) loci, together with some parameters of forensic interest were estimated from a sample set of unrelated healthy individuals from six provinces in Argentina (Buenos Aires, Córdoba, Santa Fe, Salta, Entre Ríos and Chaco). All loci of the sample were in agreement with Hardy-Weinberg equilibrium, after Bonferroni correction. The combined discrimination power for these 17 STRs was 0.999999999999999999997, whereas the combined probability of exclusion was 0.99999993. Furthermore, this population was compared to other previously published samples from Argentina, showing significant values in the population differentiation tests.
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http://dx.doi.org/10.1016/j.fsigen.2008.08.004DOI Listing
June 2009

A GEP-ISFG collaborative study on the optimization of an X-STR decaplex: data on 15 Iberian and Latin American populations.

Int J Legal Med 2009 May 12;123(3):227-34. Epub 2008 Dec 12.

IPATIMUP Institute of Pathology and Molecular Immunology, University of Porto, Porto, Portugal.

In a collaborative work carried out by the Spanish and Portuguese ISFG Working Group (GEP-ISFG), a polymerase chain reaction multiplex was optimized in order to type ten X-chromosome short tandem repeats (STRs) in a single reaction, including: DXS8378, DXS9902, DXS7132, DXS9898, DXS6809, DXS6789, DXS7133, GATA172D05, GATA31E08, and DXS7423. Using this X-decaplex, each 17 of the participating laboratories typed a population sample of approximately 200 unrelated individuals (100 males and 100 females). In this work, we report the allele frequencies for the ten X-STRs in 15 samples from Argentina (Buenos Aires, Córdoba, Río Negro, Entre Ríos, and Misiones), Brazil (São Paulo, Rio de Janeiro, Paraná, and Mato Grosso do Sul), Colombia (Antioquia), Costa Rica, Portugal (Northern and Central regions), and Spain (Galicia and Cantabria). Gene diversities were calculated for the ten markers in each population and all values were above 56%. The average diversity per locus varied between 66%, for DXS7133, and 82%, for DXS6809. For this set of STRs, a high discrimination power was obtained in all populations, both in males (> or =1 in 5 x 10(5)) and females (> or =1 in 3 x 10(9)), as well as high mean exclusion chance in father/daughter duos (> or =99.953%) and in father/mother/daughter trios (> or =99.999%). Genetic distance analysis showed no significant differences between northern and central Portugal or between the two Spanish samples from Galicia and Cantabria. Inside Brazil, significant differences were found between Rio de Janeiro and the other three populations, as well as between São Paulo and Paraná. For the five Argentinean samples, significant distances were only observed when comparing Misiones with Entre Ríos and with Río Negro, the only two samples that do not differ significantly from Costa Rica. Antioquia differed from all other samples, except the one from Río Negro.
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http://dx.doi.org/10.1007/s00414-008-0309-4DOI Listing
May 2009

Cytokine polymorphisms in patients with pemphigus.

Arch Dermatol Res 2005 Jan 10;296(7):309-13. Epub 2004 Dec 10.

Immunology, Clinical Biochemistry, School of Chemical Science, National University of Cordoba, Haya de la Torre esquina, Medina Allende Ciudad Universitaria, Cordoba, 5000, Argentina.

The aim of this study was to assess whether tumor necrosis factor alpha (TNF-alpha), transforming growth factor beta1 (TGF-beta1) and interleukin-10 (IL-10) polymorphisms are among the factors influencing the development of pemphigus. Whole blood from 20 patients with pemphigus and 24 control subjects was taken. Genomic DNA was obtained and cytokine genotyping for IL-10 (-1082 G/A; -819 C/T), TGFB1 (codon 10 C/T, codon 25 G/C) and TNFA (-308 G/A) was performed using the ARMS-PCR method. The distribution of IL-10 (-819) alleles was significantly different between the pemphigus and control groups (P=0.009). In particular, allele T was associated with the disease (OR 3.291, 95% CI 1.350-8.020). Similar results were observed when only pemphigus vulgaris (PV) patients were analyzed (P=0.012, OR 3.410, 95% CI 1.346-8.639). An increased frequency of the low producer IL-10 haplotype (-1082/-819 A/T) in patients with pemphigus compared with controls was observed (OR 2.714, 95% CI 1.102-6.685) and this association was also significant when only PV patients were considered (OR 2.667, 95% CI 1.043-6.816). There were no differences between patients and controls in the frequency of any other gene polymorphism analyzed. The increased frequency of the low producer IL-10 haplotype (-1082 /-819 A/T) suggest that the carriage of this haplotype might predispose to pemphigus or the high and intermediate producer haplotypes may be protective factors. The prevalence of the allele IL-10 (-819 T) in pemphigus patients cannot be explained by the current hypothesis, according to which a particular allele of the gene is associated with a different level of cytokine production and therefore affects the predisposition to a particular disease. However, this cytokine polymorphism might be linked to an unknown susceptibility factor.
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http://dx.doi.org/10.1007/s00403-004-0528-6DOI Listing
January 2005