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Xenarthra is a superorder of placental mammals constituted by extant armadillos, sloths, anteaters and their fossil relatives. Considering the biogeographic abundance, the two species included in the Tamandua genus are the most expressive among the anteaters, being found of the north of Central America to the south of South America. Tamandua tetradactyla stand out as the most expressive species of anteater, with often records in Brazilian biological collections. However, the absence of sexual dimorphism in the external morphology of T. tetradactyla and other anteaters contributes to that sexing mistakes are frequently observed in museum specimens. Thus, evolutionary, anatomical, ecological and pathological issues related to the sex of T. tetradactyla remain mostly unknown. Here, we investigate the use of PCR amplification of the SRY gene obtained from muscular tissues of T. tetradactyla in the sexual identification of museum specimens. In addition, we used the molecular data to reveal possible intraspecific sexual variations in the skeleton of the analyzed samples. The results indicate that the anatomical data are concordant with the molecular analysis in this study, with the appendicular bones of the specimens of T. tetradactyla presented marked patterns of sexual distinctions. The molecular-morphological integration is probably a useful tool in the recognition of intraspecific variation still unknown in museum specimens of Xenarthra.

The Blue Shark (Prionace glauca, Linnaeus, 1758) is one of the most abundant sharks in the epipelagic zone (0–200 m) and its population is distributed in oceans of tropical and temperate climate. Currently, these animals have been considered predatory fishing target and are classified as low-risk or near-endangered, according to the Red List of International Union for the Conservation Nature (IUCN). Aiming study conservation aspects of the specie, the purpose of this study is verifying the occurrence of population under-structuring in Prionace glauca. This study was started by analysis of control region of mitochondrial DNA sequences of 254 Prionace glauca individuals, obtained from the Genbank database, as well as new sequences obtained from laboratory. The second step, sequencing of another 16 individuals of the same specie was made and added to the database for a new comparison. From the current results, we can verify that there are haplotypic difference in individuals of the same species, indicating that they belong to distinct lineages. The difference observed between haplotypes indicates that there is a great migratory potential of this specie. This study will be extended with a larger number of samples and the inclusion of nuclear markers, aiming at a better understanding of the processes that act at the population level.

The current population of Colombia has a genetic heterogeneity resulting from different migrations from other continents and within the country. In addition, there are small groups in their territory that have remained isolated and therefore have a different genetic pool in relation to that of the neighbouring urban populations. This population stratification must be considered in forensic analysis, being more complex for markers with marked intercontinental differentiation. In this study, population differentiation in Colombian admixed, native, and Afro-descendant populations was evaluated for a group of 38 indels described for forensic use. Allelic frequencies and parameters of forensic relevance were determined in each of the groups defined based on population differentiation analyses. In addition to the differences found between population groups, the results show that the set of 38 indels analysed could be useful in studies of individual identification in Colombia. The exclusion power presented by this set of markers suggests the need for joint use with other markers, being able to complement the STRs in paternity cases. High levels of both power of discrimination and exclusion were found when complementing the 38 HID-indels with a second multiplex, for a total of 83 indels.

Made available in DSpace on 2020-12-12T01:14:43Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-05-01 The GHEP-ISFG organized a collaborative study to estimate mutation rates for the markers included in the Investigator Argus X-12 QS kit Qiagen. A total of 16 laboratories gathered data from 1,612 father/mother/daughter trios, which were used to estimate both maternal and paternal mutation rates, when pooled together with other already published data. Data on fathers and mothers’ age at the time of birth of the daughter were also available for ∼93 % of the cases. Population analyses were computed considering the genetic information of a subset of 1,327 unrelated daughters, corresponding to 2,654 haplotypes from residents in several regions of five countries: Argentina, Brazil, Ecuador, Portugal and Spain. Genetic differentiation analyses between the population samples from the same country did not reveal signs of significant stratification, although results from Hardy-Weinberg and linkage disequilibrium tests indicated the need of larger studies for Ecuador and Brazilian populations. The high genetic diversity of the markers resulted in a large number of haplotype combinations, showing the need of huge databases for reliable estimates of their frequencies. It should also be noted the high number of new alleles found, many of them not included in the allelic ladders provided with the kit, as very diverse populations were analyzed. The overall estimates for locus specific average mutation rates varied between 7.5E-04 (for DXS7423) and 1.1E-02 (for DXS10135), the latter being a troublesome figure for kinship analyses. Most of the found mutations (∼92 %) are compatible with the gain or loss of a single repeat. Paternal mutation rates showed to be 5.2 times higher than maternal ones. We also found that older fathers were more prone to transmit mutated alleles, having this trend not been observed in the case of the mothers. Institute of Pathology and Molecular Immunology from University of Porto (IPATIMUP) Instituto de Investigação e Inovação em Saúde I3S Universidade do Porto CMUP Centro de Matemática da Universidade do Porto Section of Forensic Genetics Department of Forensic Medicine Faculty of Health and Medical Sciences University of Copenhagen Laboratório de Diagnóstico por DNA (LDD) Universidade do Estado do Rio de Janeiro Centro de Genética Forense Poder Judicial de Córdoba Laboratorio Regional de Investigación Forense Tribunal Superior de Justicia de Santa Cruz UNESP-Universidade Estadual Paulista Faculdade de Ciências Farmacêuticas Laboratório de Investigação de Paternidade-NAC Instituto Nacional de Medicina Legal e Ciências Forenses I.P. Serviço de Genética e Biologia Forenses Delegação do Centro Escuela de Medicina Facultad de Ciencias de la Salud Universidad de Las Américas (UDLA) Laboratorio de ADN de la Fiscalía General del Estado Departamento de Biología Servicio de Criminalística de la Guardia Civil Laboratorio Regional de Genética Forense Poder Judicial de Río Negro Instituto Nacional de Medicina Legal e Ciências Forenses I.P. Serviço de Genética e Biologia Forenses Delegação do Norte PRICAI-Fundación Favaloro Laboratorio de Análisis de ADN Facultad de Ciencias Médicas Universidad Nacional de Cuyo LabGenetics: Laboratorio de Genética Clínica S.L. Genomic Engenharia Molecular Molecular Laboratorio de Genética Forense Poder Judicial de la Provincia de La Pampa Laboratorio MANLAB Área de Filiaciones UNESP-Universidade Estadual Paulista Faculdade de Ciências Farmacêuticas Laboratório de Investigação de Paternidade-NAC

Made available in DSpace on 2020-12-12T00:58:33Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-01-01 Anaesthetics Research Society The use of Y-chromosomal genetic markers in forensic investigations demands the establishment of reliable and representative DNA databases of different reference populations. The genetic characterization of the Y chromosome variation in human populations requires the analyses of haplotype frequencies allied to haplogroup determination. The present study aimed to contribute to the Brazilian database by providing 1,382 Yfiler Plus individual profiles, from 11 Brazilian states. The Yfiler Plus markers showed high haplotype diversities in all Brazilian populations (>0.9970), allowing high intra-population discrimination in forensic investigations. Pairwise genetic distances showed a homogeneity between Brazilian populations (FST ≤ 0.0043; non-differentiation p-values ≥ 0.0212), indicating that admixed populations from Brazil can be represented in a single Yfiler Plus haplotype database, for forensic purposes. The performance of Haplogroup Predictor and NevGen software in haplogroup prediction based on Yfiler Plus and Yfiler haplotypes was evaluated in a subset of 416 Brazilian samples that were also genotyped for 51 Y-SNPs. In 25% of the samples, no classification or errors were found for at least one of the prediction tools or marker sets. NevGen presented lower error rates (5.52% and 8.65% with Yfiler Plus and Yfiler, respectively) than Haplogroup Predictor (16.11% with Yfiler Plus and 13.70% with Yfiler). In conclusion, both haplogroup prediction tools can be useful to direct the SNP typing, but present large error rates to be used in forensic analysis, especially in predicting African haplogroups in admixed South American populations. DNA Diagnostic Laboratory (LDD) State University of Rio de Janeiro (UERJ) Laboratory of Human and Molecular Genetics Pontifícia Universidade Católica do Rio Grande do Sul Laboratório de Biologia e DNA Forense Superintendência de Polícia Técnico-Científica do Estado de Goiás UNESP-Universidade Estadual Paulista Faculdade de Ciências Farmacêuticas Laboratório de Investigação de Paternidade-NAC Coordenadoria de Perícias em Biologia Molecular POLITEC – Perícia Oficial e Identificação Técnica Faculdade Pitágoras Departamento de Medicina Legal Ética Médica e Medicina Social e do Trabalho da Faculdade de Medicina da USP Universidade de São Paulo (USP) IPATIMUP-Institute of Pathology and Molecular Immunology from the University of Porto I3S-Instituto de Investigação e Inovação em Saúde Universidade do Porto Postgraduate Program in Genetics and Molecular Biology Laboratory of Human and Medical Genetics Federal University of Pará Secretaria de Defesa Social Pernambuco Serviço de Endocrinologia e Metabologia do Hospital Universitário da Universidade Federal do Maranhão UNESP-Universidade Estadual Paulista Faculdade de Ciências Farmacêuticas Laboratório de Investigação de Paternidade-NAC Anaesthetics Research Society: 304413/2015-1

The New World marmosets of the sub-family Callitrichinae includes genera of marmosets, tamarins, and lion tamarins. They are small, arboreal, diurnal, insectivore/frugivores inhabiting forested, rural, and urban areas of tropical Central and South America. About 23 species are currently recognized. The marmosets are currently divided into four genera. With several threatened species, marmosets conservation is constantly under debate. Several management plans and actions are now in course although a precise delimitation of the operational management units is still open. Here we analyzed and discussed the molecular identification of some callithrichin marmosets based on previously published sequences under a DNA barcoding perspective.

The Tetraodontidae is the most speciose family within the order Tetraodontiformes, being characterized by beak-like jaws and the presence of powerful neurotoxins Tetrodotoxin/Saxitoxin associated with soft tissues, inflation behavior under stress, a condition shared with its accepted sister-family Diodontidae. Although several studies, including both morphological and molecular analyses have been conducted in the last decade the phylogeny and biogeography of Tetraodontidae and its species remain under debate. Several fatal intoxication cases had been observed in the last years related with the ingestion of Tetraodontidae species all around the world. Although recent technological advances have facilitated the sequencing of an entire mitogenome (∼16Kb), increasing the use of mtDNA as a phylogenetic marker, several studies primarily focusing on small mtDNA regions are continuously conducted. Therefore, the aim of the present study was to investigate the molecular identification and the cross-atlantic genetic divergence patterns observed from the mitochondrial COI gene of the poisonous genus Sphoeroides based on newly determined and previously published sequences from both North and South Atlantic Oceans.

The rough-toothed dolphin (Steno bredanensis) is found in deep waters in tropical, subtropical and warm temperate regions of the Atlantic, Pacific and Indian Oceans. In Brazil, however, they can be observed in coastal waters from north to south Brazil, a habit that makes them susceptible to several anthropogenic impacts. This species is one of the small cetaceans with the most recorded cases of accidental catches in fishing nets (bycatch). Although Steno bredanensis is classified as ‘least concern' by the IUCN RedList, little is known about its population size and population structure. The present study evaluates the genetic structure of rough-toothed dolphins based on 15 stranded individuals from Rio de Janeiro, Brazil, using the mitochondrial D-Loop region. We were not able to obtain new data on the population structure of the species in southeastern Brazil. Therefore, the structure detected by Silva et al, 2015 should continue to be accepted.

The Elasmobranchii comprises the diverse and important group of sharks and rays. The Selachii or sharks clade includes some of the ocean's largest predatory fishes, being commercially overexploited due to unsustainable fishing activities for their meat and fins. Overfishing has resulted in significant population declines and several Selachii species are now considered under high threat and facing extinction, with about 93% of its nominal species included in the IUCN Red List. Molecular data has provided important information about these species, allowing the management of natural stocks and their decline. Population genetics, connectivity data, and their population genetics knowledge are now available and play an important role on establishing conservation policies. However, despite the ecological, commercial and conservation importance, no molecular method is available to identify sharks in a forensic analytic context. As a first step in the construction of a reliable method for shark identification, we carried out a molecular systematic analysis using 85 previously published mitochondrial 16S rRNA gene sequences obtained from the NCBI database. We found that indels in the 16S rRNA gene can be used to distinguish almost all the analyzed shark species, including some of the most threatened according to IUCN Red List. The regions selected in this study can be used for the construction of molecular assays for shark identification in a forensic context.

The identification of species and the assignment of unidentified samples to a voucher reference database are among the most requested forensic analyses involving crimes against wildlife. Genomic DNA from forensic or museum samples, however, are frequently degraded, hampering the analysis of DNA fragments longer than 500bp. Among studies targeting non-human species identification, one of the most frequently used fragments is the mitochondrial Cytochrome C Oxidase subunit I (COI), in particular a ‘barcode' region containing approximately 650 base pairs (bp). The main objective of this work was to develop a set of primers to amplify five shorter overlapping COI fragments for the neotropical marmosets ( Callithrix spp.) to be used in samples from museum specimens. Taxidermized skins, bones, and hair tissues were sampled out of 9 museum specimens with a range archival from 81 to 2 years; PCR were performed with five mini-amplicons primers pairs and with the primer pair for the whole barcode COI fragment, followed by Sanger sequencing. As results, no amplification was observed using the primer pair for the longer COI sequence; however, using the new set of mini-amplicon primers, all types of samples were amplified. We established optimal PCR conditions for the employed primers and conclude that the mini-amplicon strategy for COI region typing is best suited for hardly degraded samples in forensic research, and in particular for museum samples.

The South American country of Peru is composed by a highly admixed population, with Native American, European and African genetic contributions. Some Native American groups in Peru underwent low admixture with Europeans or Africans and they have kept much of their culture and their original language. In this work we have studied one of these groups called Ashaninka, for the 27 Y chromosome specific STR loci that were included in the recently released YFiler Plus kit. The samples have been collected from 58 unrelated males belonging to 41 different communities located in the margins of the Amazonian rivers Pichis and Palcazu, in the district of Puerto Bermudez, Pasco region, Peru. A high Y-STR haplotype diversity was found (1.0000±0.0022) with all haplotypes being unique in the studied sample. Two markers that usually present a high diversity in European populations showed very low values of diversity in the Ashaninka Native Americans, namely the DYS635 (Het=0.2263) and DYS437 (Het=0.1325). On the other hand, the DYS438 showed a much higher diversity in Ashaninka (Het=0.6582) group than that usually found in European populations. Apart from the multi-loci markers DYS385 and DYF387S1, more than one allele was also observed in one sample for DYS518 locus. This study represents the first report of haplotype frequencies for the YFiler Plus markers' set in a Native American population, showing a high diversity of haplotypes and, therefore, demonstrating their usefulness in forensic identification cases.

For years, illegal pet trade resulted in the introduction of marmosets from the species Callithrix jacchus and C. penicillata in the Atlantic Forest of southeastern Brazil. Among other problems these primates are able to produce fertile hybrids in crosses between themselves and also with its counterpart, the endangered Buffy-tufted-ear marmoset ( C. aurita ) natural of this region. Molecular genetic data has increasingly been used as support for issues related to biodiversity with great contribution to conservation programs, because of its power to elucidate gene flow, introgression, levels of kinship and hybridization. In forensics, this information has the potential to be used for the control of exotic species and curb trafficking of native species. By sequencing using mitochondrial markers Cyt b and CO II, this work shows the molecular characterization of a mixed group of marmosets found between the forest and a urbanized area close to the Serra dos Orgaos National Park in Rio de Janeiro state. The results showed that the group of marmosets here studied is formed by a male individual with phenotype and genotype matching that of the endangered species C. aurita , among others which belong to the invasive species C. penicillata and C. jacchus . This reinforces the importance of studies aimed at elucidating the dynamics of gene flow and the viability of possible hybrids facing the conservation of native species. From the forensics standpoint, the characterization based on molecular markers, ensures a more comprehensive tool for identifying those species fighting illegal trade and preserving the endangered C. aurita .

Ordinary paternity cases are successfully conclusive by applying a commercial multiplex system, as the Identifiler or Powerplex PP18, for instance, in the laboratory routine. However, the LR becomes smaller by a factor of 10 2 –10 4 when the occurrence of one/two STR loci paternity putative mutation(s) and a larger number of loci should be genotyped. Moreover, one commercial kit is not enough to solve the majority of cases in which relatives of an absent alleged father take his place in the genetic investigation. As a supplemental tool for those kind of cases, a human DNA multiplex typing system (AX9) comprising seven autosomal (D1S1656, D12S391, D16S539, Penta D, Penta E, D3S18773 and GH15) and two X chromosomal (DXS7133 and DXS10074) STRs markers has been developed in our laboratory. The D3S18773 and GH15 loci have not been already described and statistical parameters are presented for them. The X-chromosome markers are particularly important for comparisons among an alleged father, or his mother, and a female child as well as for cases of maternity investigation. The usefulness of the AX9 multiplex as an additional genotyping system for complex kinship cases was tested. The results have shown a very important increase on the likelihood ratios.