Forensic population data for 20 STR loci in Argentina

In order to provide useful information of forensic interest for the new markers included in the PowerPlex1 21 System (Promega Corp, USA), namely D1S1656, D6S1043 and D12S391, a population study was conducted in a sample of 907 unrelated healthy individuals from Argentina. Samples were randomly chosen from routine paternity testing. Blood samples or buccal swabs were collected after informed consent, taken from individuals of different urban populations from 7 provinces of Argentina: 464 individuals from a Region 1, including the provinces of Catamarca (N = 27), Córdoba (N = 67), Entre Ríos (N = 24) and Buenos Aires (N = 346), and 443 individuals form a Region 2 including the provinces of Neuquén (N = 134), Chubut (N = 223) and Santa Cruz (N = 86).Fil: Borosky, Alicia. Laboratorio de Inmunogenética y Diagnóstico Molecular; ArgentinaFil: Toscanini, Ulises. Fundación Favaloro. Primer Centro Argentino de Inmunogenética; ArgentinaFil: Gómez, Andrea. Fundación Favaloro. Primer Centro Argentino de Inmunogenética; ArgentinaFil: Parolin, María Laura. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; ArgentinaFil: Basso, Nestor Guillermo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; ArgentinaFil: Vullo, Carlos. Laboratorio de Inmunogenética y Diagnóstico Molecular; Argentin

Genomic continuity of Argentinean Mennonites

Mennonites are Anabaptist communities that originated in Central Europe about 500 years ago. They initially migrated to different European countries, and in the early 18th century they established their first communities in North America, from where they moved to other American regions. We aimed to analyze an Argentinean Mennonite congregation from a genome-wide perspective by way of investigating >580.000 autosomal SNPs. Several analyses show that Argentinean Mennonites have European ancestry without signatures of admixture with other non-European American populations. Among the worldwide datasets used for population comparison, the CEU, which is the best-subrogated Central European population existing in The 1000 Genome Project, is the dataset showing the closest genome affinity to the Mennonites. When compared to other European population samples, the Mennonites show higher inbreeding coefficient values. Argentinean Mennonites show signatures of genetic continuity with no evidence of admixture with Americans of Native American or sub-Saharan African ancestry. Their genome indicates the existence of an increased endogamy compared to other Europeans most likely mirroring their lifestyle that involve small communities and historical consanguineous marriagesThe research leading to these results has received funding from the People Program (Marie Curie Actions) of the European Union’s Seventh Framework Program FP7/2007–2013/ under REA grant agreement no. 290344; from the “Ministerio de Ciencia e Innovación” (SAF2011-26983), the “Plan Galego IDT” (EM 2012/045) and a grant from the “Sistema Universitario Gallego - Modalidad REDES” (2012-PG226) from the Xunta de Galicia (A.S.)S

Genetic admixture patterns in Argentinian Patagonia

As in other Latin American populations, Argentinians are the result of the admixtureamongst different continental groups, mainly from America and Europe, and to a lesserextent from Sub-Saharan Africa. However, it is known that the admixture processes did notoccur homogeneously throughout the country. Therefore, considering the importance foranthropological, medical and forensic researches, this study aimed to investigate the populationgenetic structure of the Argentinian Patagonia, through the analysis of 46 ancestryinformative markers, in 433 individuals from five different localities. Overall, in the Patagoniansample, the average individual ancestry was estimated as 35.8% Native American(95% CI: 32.2?39.4%), 62.1% European (58.5?65.7%) and 2.1% African (1.7?2.4%). Comparingthe five localities studied, statistically significant differences were observed for theNative American and European contributions, but not for the African ancestry. The admixtureresults combined with the genealogical information revealed intra-regional variationsthat are consistent with the different geographic origin of the participants and their ancestors.As expected, a high European ancestry was observed for donors with four grandparentsborn in Europe (96.8%) or in the Central region of Argentina (85%). In contrast, theNative American ancestry increased when the four grandparents were born in the North(71%) or in the South (61.9%) regions of the country, or even in Chile (60.5%). In summary,our results showed that differences on continental ancestry contribution have different originsin each region in Patagonia, and even in each locality, highlighting the importance ofknowing the origin of the participants and their ancestors for the correct interpretation andcontextualization of the genetic information.Fil: Parolin, María Laura. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto de Diversidad y Evolución Austral; ArgentinaFil: Toscanini, Ulises Faustino. Fundación Favaloro; ArgentinaFil: Velázquez, Irina Florencia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto de Diversidad y Evolución Austral; ArgentinaFil: Llull, Cintia. Fundación Favaloro; ArgentinaFil: Berardi, Marisa Gabriela. Fundación Favaloro; ArgentinaFil: Holley Reguiló, Juan Alfredo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto de Diversidad y Evolución Austral; ArgentinaFil: Tamburrini, Camila. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto de Diversidad y Evolución Austral; ArgentinaFil: Avena, Sergio Alejandro. Universidad Maimónides. Área de Investigaciones Biomédicas y Biotecnológicas. Centro de Estudios Biomédicos, Biotecnológicos, Ambientales y de Diagnóstico; Argentina. Universidad de Buenos Aires. Facultad de Filosofía y Letras. Instituto de Ciencias Antropológicas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Carnese, Francisco Raul. Universidad de Buenos Aires. Facultad de Filosofía y Letras. Instituto de Ciencias Antropológicas; ArgentinaFil: Lanata, Jose Luis. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Patagonia Norte. Instituto de Investigaciones en Diversidad Cultural y Procesos de Cambio. Universidad Nacional de Río Negro. Instituto de Investigaciones en Diversidad Cultural y Procesos de Cambio; ArgentinaFil: Carnero, Noela Sánchez. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Centro para el Estudio de Sistemas Marinos; ArgentinaFil: Arce, Lucas Federico. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto de Diversidad y Evolución Austral; ArgentinaFil: Basso, Nestor Guillermo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto de Diversidad y Evolución Austral; ArgentinaFil: Pereira, Rui. Universidad de Porto; PortugalFil: Gusmão, Leonor. Universidade do Estado de Rio do Janeiro; Brasil. Universidad de Porto; Portuga

Continent-wide decoupling of Y-chromosomal genetic variation from language and geography in native South Americans

Numerous studies of human populations in Europe and Asia have revealed a concordance between their extant genetic structure and the prevailing regional pattern of geography and language. For native South Americans, however, such evidence has been lacking so far. Therefore, we examined the relationship between Y-chromosomal genotype on the one hand, and male geographic origin and linguistic affiliation on the other, in the largest study of South American natives to date in terms of sampled individuals and populations. A total of 1,011 individuals, representing 50 tribal populations from 81 settlements, were genotyped for up to 17 short tandem repeat (STR) markers and 16 single nucleotide polymorphisms (Y-SNPs), the latter resolving phylogenetic lineages Q and C. Virtually no structure became apparent for the extant Y-chromosomal genetic variation of South American males that could sensibly be related to their inter-tribal geographic and linguistic relationships. This continent-wide decoupling is consistent with a rapid peopling of the continent followed by long periods of isolation in small groups. Furthermore, for the first time, we identified a distinct geographical cluster of Y-SNP lineages C-M217 (C3*) in South America. Such haplotypes are virtually absent from North and Central America, but occur at high frequency in Asia. Together with the locally confined Y-STR autocorrelation observed in our study as a whole, the available data therefore suggest a late introduction of C3* into South America no more than 6,000 years ago, perhaps via coastal or trans-Pacific routes. Extensive simulations revealed that the observed lack of haplogroup C3* among extant North and Central American natives is only compatible with low levels of migration between the ancestor populations of C3* carriers and non-carriers. In summary, our data highlight the fact that a pronounced correlation between genetic and geographic/cultural structure can only be expected under very specific conditions, most of which are likely not to have been met by the ancestors of native South Americans

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

Abstract In a collaborative work carried out by the Spanish and Portuguese ISFG Working Group (GEPISFG), 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 XSTRs 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 (≥1 in 5×105) and females (≥1 in 3×109), as well as high mean exclusion chance in father/daughter duos (≥99.953%) and in father/mother/daughter trios (≥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.Fil: Gusmão, Leonor. Universidad de Porto; PortugalFil: Sánchez Diz, Paula. Universidad de Santiago de Compostela; EspañaFil: Alves, Cíntia. Universidad de Porto; PortugalFil: Gomes, Iva. Universidad de Porto; PortugalFil: Zarrabeitia, María Teresa. Universidad de Cantabria; EspañaFil: Abovich, Mariel. Ministerio de Ciencia, Tecnología e Innovación Productiva. Banco Nacional de Datos Genéticos; ArgentinaFil: Atmetlla, Ivannia. Laboratorio de Análisis Clínicos y Moleculares; Costa RicaFil: Bobillo, Maria Cecilia. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay; ArgentinaFil: Bravo, Luisa. Laboratorio Genes; ColombiaFil: Builes, Juan. Laboratorio Genes; ColombiaFil: Cainé, Laura. Instituto Nacional de Medicina Legal; PortugalFil: Calvo, Raquel. Universidad de Santiago de Compostela; EspañaFil: Carvalho, Elizeu. Universidade do Estado do Rio de Janeiro; BrasilFil: Carvalho, Mónica. Instituto Nacional de Medicina Legal; PortugalFil: Cicarelli, Regina. Universidade Estadual Paulista; BrasilFil: Catelli, Laura. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Corach, Daniel. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay; ArgentinaFil: Espinoza, Marta. Unidad de Genética Forense; Costa RicaFil: García Monasterio, Óscar. Area de Laboratorio Ertzaintza; EspañaFil: Malaghini, Marcelo. Laboratorio Frischmann Aisengart ; BrasilFil: Martins, Joyce. Universidade Estadual Paulista; BrasilFil: Pinheiro, Fátima. Instituto Nacional de Medicina Legal; PortugalFil: Porto, Maria João. Instituto Nacional de Medicina Legal; PortugalFil: Raimondi, Eduardo Humberto. Fundación Favaloro; ArgentinaFil: Riancho, Jose Antonio. Universidad de Cantabria; EspañaFil: Rodríguez, Amelia. Universidad de Santiago de Compostela; EspañaFil: Rodríguez, Anayanci. Universidad de Santiago de Compostela; EspañaFil: Rodríguez Cardozo, Belén. Ministerio de Ciencia, Tecnología e Innovación Productiva. Banco Nacional de Datos Genéticos; ArgentinaFil: Schneider, Vicente. Laboratorio Frischmann Aisengart; BrasilFil: Silva, Sandra. Laboratorio de Análisis Clínicos y Moleculares; Costa RicaFil: Tavares, Celso. Universidade do Estado do Rio de Janeiro; BrasilFil: Toscanini, Ulises Faustino. Fundación Favaloro; ArgentinaFil: Vullo, Carlos. No especifíca;Fil: Whittle, Martin. Genomic Engenharia Molecular; BrasilFil: Yurrebaso, Iñaki. Laboratorio Ertzaintza; EspañaFil: Carracedo, Ángel. Universidad de Santiago de Compostela; EspañaFil: Amorim, António. Universidad de Porto; Portuga

Natural History of MYH7-Related Dilated Cardiomyopathy

BACKGROUND Variants in myosin heavy chain 7 (MYH7) are responsible for disease in 1% to 5% of patients with dilated cardiomyopathy (DCM); however, the clinical characteristics and natural history of MYH7-related DCM are poorly described. OBJECTIVES We sought to determine the phenotype and prognosis of MYH7-related DCM. We also evaluated the influence of variant location on phenotypic expression. METHODS We studied clinical data from 147 individuals with DCM-causing MYH7 variants (47.6% female; 35.6 +/- 19.2 years) recruited from 29 international centers. RESULTS At initial evaluation, 106 (72.1%) patients had DCM (left ventricular ejection fraction: 34.5% +/- 11.7%). Median follow-up was 4.5 years (IQR: 1.7-8.0 years), and 23.7% of carriers who were initially phenotype-negative developed DCM. Phenotypic expression by 40 and 60 years was 46% and 88%, respectively, with 18 patients (16%) first diagnosed at <18 years of age. Thirty-six percent of patients with DCM met imaging criteria for LV noncompaction. During follow-up, 28% showed left ventricular reverse remodeling. Incidence of adverse cardiac events among patients with DCM at 5 years was 11.6%, with 5 (4.6%) deaths caused by end-stage heart failure (ESHF) and 5 patients (4.6%) requiring heart transplantation. The major ventricular arrhythmia rate was low (1.0% and 2.1% at 5 years in patients with DCM and in those with LVEF of <= 35%, respectively). ESHF and major ventricular arrhythmia were significantly lower compared with LMNA-related DCM and similar to DCM caused by TTN truncating variants. CONCLUSIONS MYH7-related DCM is characterized by early age of onset, high phenotypic expression, low left ventricular reverse remodeling, and frequent progression to ESHF. Heart failure complications predominate over ventricular arrhythmias, which are rare. (C) 2022 The Authors. Published by Elsevier on behalf of the American College of Cardiology Foundation

Second GHEP-ISFG exercise for DVI: “DNA-led” victims’ identification in a simulated air crash

The Spanish and Portuguese-Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) has organized a second collaborative exercise on a simulated case of Disaster Victim Identification (DVI), with the participation of eighteen laboratories. The exercise focused on the analysis of a simulated plane crash case of medium-size resulting in 66 victims with varying degrees of fragmentation of the bodies (with commingled remains). As an additional difficulty, this second exercise included 21 related victims belonging to 6 families among the 66 missings to be identified. A total number of 228 post-mortem samples were represented with aSTR and mtDNA profiles, with a proportion of partial aSTR profiles simulating charred remains. To perform the exercise, participants were provided with aSTR and mtDNA data of 51 reference pedigrees —some of which deficient—including 128 donors for identification purposes. The exercise consisted firstly in the comparison of the post-mortem genetic profiles in order to re-associate fragmented remains to the same individual and secondly in the identification of the re-associated remains by comparing aSTR and mtDNA profiles with reference pedigrees using pre-established thresholds to report a positive identification. Regarding the results of the post-mortem samples re-associations, only a small number of discrepancies among participants were detected, all of which were from just a few labs. However, in the identification process by kinship analysis with family references, there were more discrepancies in comparison to the correct results. The identification results of single victims yielded fewer problems than the identification of multiple related victims within the same family groups. Several reasons for the discrepant results were detected: a) the identity/non-identity hypotheses were sometimes wrongly expressed in the likelihood ratio calculations, b) some laboratories failed to use all family references to report the DNA match, c) In families with several related victims, some laboratories firstly identified some victims and then unnecessarily used their genetic information to identify the remaining victims within the family, d) some laboratories did not correctly use “prior odds” values for the Bayesian treatment of the episode for both post-mortem/post-mortem re-associations as well as the ante-mortem/post-mortem comparisons to evaluate the probability of identity. For some of the above reasons, certain laboratories failed to identify some victims. This simulated “DNA-led” identification exercise may help forensic genetic laboratories to gain experience and expertize for DVI or MPI in using genetic data and comparing their own results with the ones in this collaborative exercise.This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.Peer reviewe

A global analysis of Y-chromosomal haplotype diversity for 23 STR loci

In a worldwide collaborative effort, 19,630 Y-chromosomes were sampled from 129 different populations in 51 countries. These chromosomes were typed for 23 short-tandem repeat (STR) loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385ab, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, GATAH4, DYS481, DYS533, DYS549, DYS570, DYS576, and DYS643) and using the PowerPlex Y23 System (PPY23, Promega Corporation, Madison, WI). Locus-specific allelic spectra of these markers were determined and a consistently high level of allelic diversity was observed. A considerable number of null, duplicate and off-ladder alleles were revealed. Standard single-locus and haplotype-based parameters were calculated and compared between subsets of Y-STR markers established for forensic casework. The PPY23 marker set provides substantially stronger discriminatory power than other available kits but at the same time reveals the same general patterns of population structure as other marker sets. A strong correlation was observed between the number of Y-STRs included in a marker set and some of the forensic parameters under study. Interestingly a weak but consistent trend toward smaller genetic distances resulting from larger numbers of markers became apparent.Peer reviewe