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In this population study 1541 samples in total were collected and analyzed. The samples were collected from five jurisdictions: North macro region (n = 272), Central macro region (n = 404), South macro region (n = 272), East macro region (n = 197), and the Lima macro region (n = 396). The samples were analyzed using the Investigator 24 plex GO and Investigator 24 plex QS kits which enable typing of 21 autosomal STR loci and an amelogenin marker for sex determination. The combined power of discrimination and the combined probability of exclusion for the total population were 0.9999999999 and 0.99999978, respectively. These population geographic subgroupings are similar, supporting that the combined Peruvian data or individual subgroupings could be used for generating statistics in forensic casework. Revisión por pares

A variação genética humana tem um alto poder discriminativo; portanto, a previsão de fenótipos através do genótipo tem sido um tópico de crescente interesse para estudo, existindo expectativa do seu uso na medicina personalizada e na área da genética forense, sendo esta última de maior interesse na previsão de características visíveis externamente. Uma das áreas de variação genética humana com mais variantes é a pigmentação, e pela sua natureza multifatorial é de grande interesse estudar o efeito de medicamentos sobre essa característica, ainda mais considerando que medicamentos já identificados como relacionados com a pigmentação induzida, estão presentes no ambiente e, por esse motivo, somos expostos a eles, mesmo sem conhecimento. A influência de drogas na pigmentação é uma área com quase nenhum estudo, sendo apenas mencionada mas não explorada muito além, principalmente porque aqueles estudos que se concentram nos efeitos das drogas nos organismos normalmente estão mais relacionados a patologias, sendo a pigmentação uma característica descartada facilmente Human genetic variation has a high discriminatory power, so the prediction of phenotypes through genotype has been a topic of growing interest for study, and there is anticipation for its use in personalized medicine and in the area of forensic genetics, the latter having a greater interest in predicting externally visible traits. One of the areas of human genetic variation with more variants is the pigmentation, and for its multifactorial nature is of great interest to study the effect of pharmaceutical drugs on this characteristic, even more considering that drugs that have already been identified as related to induced pigmentation, are present in the environment and for that reason we are exposed to them even without knowledge. Drug influence in pigmentation is an area with almost no studies, having only a few that mention pigmentation but do not explore this any further mainly because the ones who focus on drugs effects on organisms normally are more related to pathologies being the pigmentation a characteristic that is easily discarded Mestrado em Biologia Aplicada

Submitted by Cristina Santos (cmaria@ua.pt) on 2020-04-02T12:41:39Z No. of bitstreams: 1 Documento.pdf: 708441 bytes, checksum: e25fa719969d353a26bf056e1e79d61f (MD5) Made available in DSpace on 2020-04-02T12:41:39Z (GMT). No. of bitstreams: 1 Documento.pdf: 708441 bytes, checksum: e25fa719969d353a26bf056e1e79d61f (MD5) Previous issue date: 2019-12-16 Mestrado em Biologia Aplicada

Mitochondrial DNA (mtDNA) presents several characteristics useful for forensic studies, especially related to the lack of recombination, to a high copy number, and to matrilineal inheritance. mtDNA typing based on sequences of the control region or full genomic sequences analysis is used to analyze a variety of forensicsamples such as old bones, teeth and hair, as well as other biological samples where the DNA content is low. Evaluation and reporting of the results requires careful consideration of biological issues as well as other issues such as nomenclature and reference population databases. In this work we review mitochondrial DNA profiling methods used for human identification and present their use in the main cases of human identification focusing on the most relevant issues for the forensic and medico-legal areas.

To control illegal wildlife-product trade and protect endangered species of animals, unambiguous identification of the captured specimens is essential. Forensic genetic tools have contributed to identify animal species for conservation purposes promoting accurate results for informing public policies and management of the biodiversity. The southern muriqui (Brachyteles arachnoides) is the largest non-human primate of the Neotropical region and is critically endangered (IUCN Red List of Threatened Species), mainly due to the illegal hunting for bushmeat. In this study, we describe a molecular method using PCR/RFLP to differentiate between bushmeat of southern muriqui and the meat of the domestic animals most commonly consumed in Brazil (Bos taurus, Ovis aries, Capra hircus, and Sus scrofa). The method is based on the amplification and digestion with BanI restriction enzyme of the 16S mtDNA region. We also examine 16S mtDNA sequences of the southern muriqui and other 13 sympatric and parapatric wild species of mammals also hunted for bushmeat to examine whether homologies of the BanI restriction sites could lead to species misidentification. The results indicate the utility of this tool as it represents a simple and cost-effective method to differentiate southern muriqui samples from those of the examined domestic and wild sympatric and parapatric species. We hope this molecular tool will help public authorities in crime prevention, and enhance law reinforcement of illegal hunting of threatened animal species. Para controlar o comércio ilegal de vida selvagem e proteger espécies animais ameaçadas, é essencial a identificação inequívoca dos espécimes capturados. Ferramentas de genética forense têm contribuído na identificação de animais para fins conservacionistas, fornecendo resultados precisos utilizados em políticas de gestão da biodiversidade. O muriqui-do-sul (Brachyteles arachnoides) é o maior primata não humano da região neotropical e está criticamente em perigo (Lista Vermelha da IUCN) devido, principalmente, à caça ilegal para consumo de sua carne. Nesse estudo, descrevemos um método molecular baseado em PCR/RFLP para diferenciar a carne do muriqui-do-sul da carne dos animais domésticos mais consumidos no Brasil (Bos taurus, Ovis aries, Capra hircus, and Sus scrofa). Este método é baseado na amplificação e digestão da região 16S mtDNA com a enzima de restrição BanI. Além disso, sequências da região do 16S mtDNA do muriqui-do-sul e de 13 espécies de mamíferos simpátricos e parapátricos também caçados por sua carne foram examinadas para avaliar a presença de sítios de restrição homólogos que pudessem comprometer a identificação do muriqui-do-sul. Os resultados indicam a utilidade desta ferramenta por representar um método simples e de baixo custo que permite diferenciar amostras de muriqui-do-sul das amostras das espécies domésticas e selvagens que foram examinadas. Esperamos que esta ferramenta molecular ajude as autoridades na prevenção de crimes contra a biodiversidade e cumprimento da legislação contra a caça ilegal de animais ameaçados.

This investigation intends to study materials and techniques used for biological evidence collection in sexual assault cases and is divided into two stages: in stage one, methods for biological evidence collection (the single swab (including three variants) and the "double swab technique") were compared; in stage two, swabs' component material was compared. The sampling was composed of 42 heterosexual couples who provided mock samples. The collection methods in which the whole swab is covered by evidence presented significantly better outcomes (p

The scientific and technological advances in forensic research has resulted in recent years in the use of various scientific applications such as Forensic Genetic; the possibility that this area is critical to the identification of persons and the establishment of biological relationship. Since in Mexico, expert evidence on Molecular and Forensic Genetics used in in family and civil trial´s matters, in order to recognize the relationship between individuals has a little over 10 years to be used actively, it is necessary that forensic experts involved in these judgments have a sampling protocol to ensure technical and legally correct way sample collection; and ensure safekeeping and processing them in the laboratory, the aim of which is meet the new requirements of orality.

Introduction Human identification is considered one of the major steps concerning missing people. The Forensic Anthropology Sector of Legal Medical Institutes identifies corpses. Forensic dentistry and DNA tests stand out among the existing standard tests. Objective This article aimed to evaluate human identification effectiveness through forensic dental examination performed in the forensic anthropology sector in a Forensic Medical Institute, comparing them with DNA analyses. Methodology This is a cross-sectional study using secondary data available in the department´s database, from 2008 to 2014, concerning identification procedures using forensic dentistry and DNA techniques. Result The analysis of the examinations eligible to this study (241) showed that DNA analysis was the method used for identification in 79.3% of the cases and forensic dental examinations were used in 20.7% of the cases. As for the type of biological material used during these examinations, unidentified corpses corresponded to 131 cases (53.9%), skeleton structures corresponded to 109 cases (44.9%) and there were 3 cases of body segments (1.2%). When analyzing the time spent to complete the tests, dental examinations were faster than DNA tests. The time spent for forensic dental examination does not depend on the type of dental documentation evaluated. Conclusion The analysis of the results in this study showed that human identification through forensic dentistry is effective, rapid and less costly, contributing to greater agility in solving issues related to locating missing people. Resumo Introdução A identificação humana é uma das principais etapas referentes às questões relacionadas à pessoa desaparecida. Objetivo O presente estudo visou avaliar a efetividade da identificação humana pelas perícias odontolegais realizadas no Serviço de Antropologia Forense de Belo Horizonte-Minas Gerais, comparando-as com as realizadas por DNA. Metodologia Estudo transversal, utilizando dados secundários registrados no arquivo do Setor de Antropologia Forense, considerando o período de 2008 a 2014, referente às perícias de identificação odontolegais e DNA. Resultado Analisando-se apenas as perícias de interesse deste estudo (241), a análise de DNA foi o método utilizado para identificação em 79,3% dos casos e exame odontolegal, 20,7%. Quanto ao tipo de material biológico encaminhado para análise, os cadáveres desconhecidos totalizaram 131 (53,9%), as ossadas 109 (44,9%) e segmentos corporais 3 (1,2%). A análise do tempo efetivamente despendido para a conclusão dos exames mostrou que os realizados pela Odontologia foram mais rápidos que os de DNA. No exame odontolegal, o tempo gasto independe do tipo de documentação odontológica avaliada. Conclusão A análise dos resultados do presente estudo mostrou que a identificação humana pela técnica odontolegal é eficaz, mais ágil e menos onerosa, contribuindo para uma maior celeridade na resolução de questões envolvidas na localização de pessoas desaparecidas.

Trabalho apresentado sob a forma de poster na reunião cientifica - "Haploid Markers 2016 Update on DNA variation" Maio 20-21, Berlin, Germany Due to their paternal inheritance, Y-STRs offers particular perspectives for identification and kinship analysis and are also a precious tool in sexual assault cases with relatively high amount of female DNA and also in mixtures from multiple male donors. Nonetheless their value, there are some limitations to their use in forensic investigations since their ability to discriminate between individuals is considerably lower than that of the autosomal STRs set, mainly in cases with close or distant patrilineal relatives.One of the most recently developed Y-STR kit, Y-Filer Plus® (Life Technologies, Foster city, USA), allows forensic geneticists to study 27 Y-chromosomal loci. All the 16 markers included in the Y-Filer® kit (Life Technologies, Foster city, USA), plus 9 additional markers: DYS576, DYS627, DYS460, DYS518, DYS570, DYS449, DYS481, DYF387S1 and DYS533, six of which (DYS576, DYS627, DYS518, DYS570, DYS449 and DYF387S1) are characterized as “rapidly mutating”, and can differentiate between unrelated individuals and possibly between male relatives.Allelic frequencies were estimated with Arlequin v. 3.5. Gene and Haplotype diversities were estimated according to Nei formula. The discrimination capacity was also calculated by dividing the number of different haplotypes by the total number of individuals in the sample. The fraction of unique haplotypes was determined as the percent proportion of unique haplotypes. In conclusion, the recently introduced Y-Filer Plus® system provides innovative discriminatory power for forensic application N/A

La reciente utilización de la tecnología del ADN para la identificación individual a traído consigo una revolución en las ciencias forenses, que ha alcanzado también a la America Latina. El análisis histórico muestra que en Costa Rica se han logrado importantes avances y en la actualidad se encuentra consolidado el trabajo con los STRs, y se están en proceso de implementación los marcadores de ADNmt y del cromosoma Y. Sin embargo, la incorporación de las innovaciones de la genética forense se ha venido realizando, en forma cíclica, de 5 a 10 años tarde respecto a los paises desarrollados en este campo. Se espera un cambio de actitud en el futuro, al estar disponible una nueva generación de marcadores de ADN, que permita así utilizar en forma pronta, todo el potencial de esta útil técnología.Forensic implementation of DNA technology in Costa Rica: a retrospective analysis. La reciente utilización de la tecnología del ADN para la identificación individual a traído consigo una revolución en las ciencias forenses, que ha alcanzado también a la America Latina. El análisis histórico muestra que en Costa Rica se han logrado importantes avances y en la actualidad se encuentra consolidado el trabajo con los STRs, y se están en proceso de implementación los marcadores de ADNmt y del cromosoma Y. Sin embargo, la incorporación de las innovaciones de la genética forense se ha venido realizando, cíclicamente, de 5 a 10 años tarde respecto a los paises desarrollados en este campo. Se espera un cambio de actitud en el futuro, al estar disponibles nuevas generaciones de marcadores de ADN, que permitan explotar a corto plazo todo el potencial de esta útil herramienta al servicio de la justicia. Rev. Biol. Trop. 52(3): 695-712. Epub 2004 Dic 15.

The genetic impact associated to the Neolithic spread in Europe has been widely debated over the last 20 years. Within this context, ancient DNA studies have provided a more reliable picture by directly analyzing the protagonist populations at different regions in Europe. However, the lack of available data from the original Near Eastern farmers has limited the achieved conclusions, preventing the formulation of continental models of Neolithic expansion. Here we address this issue by presenting mitochondrial DNA data of the original Near-Eastern Neolithic communities with the aim of providing the adequate background for the interpretation of Neolithic genetic data from European samples. Sixty-three skeletons from the Pre Pottery Neolithic B (PPNB) sites of Tell Halula, Tell Ramad and Dja'de El Mughara dating between 8,700–6,600 cal. B.C. were analyzed, and 15 validated mitochondrial DNA profiles were recovered. In order to estimate the demographic contribution of the first farmers to both Central European and Western Mediterranean Neolithic cultures, haplotype and haplogroup diversities in the PPNB sample were compared using phylogeographic and population genetic analyses to available ancient DNA data from human remains belonging to the Linearbandkeramik-Alföldi Vonaldiszes Kerámia and Cardial/Epicardial cultures. We also searched for possible signatures of the original Neolithic expansion over the modern Near Eastern and South European genetic pools, and tried to infer possible routes of expansion by comparing the obtained results to a database of 60 modern populations from both regions. Comparisons performed among the 3 ancient datasets allowed us to identify K and N-derived mitochondrial DNA haplogroups as potential markers of the Neolithic expansion, whose genetic signature would have reached both the Iberian coasts and the Central European plain. Moreover, the observed genetic affinities between the PPNB samples and the modern populations of Cyprus and Crete seem to suggest that the Neolithic was first introduced into Europe through pioneer seafaring colonization., Author Summary Since the original human expansions out of Africa 200,000 years ago, different prehistoric and historic migration events have taken place in Europe. Considering that the movement of the people implies a consequent movement of their genes, it is possible to estimate the impact of these migrations through the genetic analysis of human populations. Agricultural and husbandry practices originated 10,000 years ago in a region of the Near East known as the Fertile Crescent. According to the archaeological record this phenomenon, known as “Neolithic”, rapidly expanded from these territories into Europe. However, whether this diffusion was accompanied or not by human migrations is greatly debated. In the present work, mitochondrial DNA –a type of maternally inherited DNA located in the cell cytoplasm- from the first Near Eastern Neolithic populations was recovered and compared to available data from other Neolithic populations in Europe and also to modern populations from South Eastern Europe and the Near East. The obtained results show that substantial human migrations were involved in the Neolithic spread and suggest that the first Neolithic farmers entered Europe following a maritime route through Cyprus and the Aegean Islands.

Tese de mestrado. Biologia (Biologia Humana e Ambiente). Universidade de Lisboa, Faculdade de Ciências, 2014 Submitted by Lurdes Saramago (lurdes.saramago@fc.ul.pt) on 2014-12-29T17:48:43Z No. of bitstreams: 1 ulfc107405_tm_carina_almeida.pdf: 3292734 bytes, checksum: 471739d256293068db73f2f75ba0cb21 (MD5) Made available in DSpace on 2014-12-29T17:49:34Z (GMT). No. of bitstreams: 1 ulfc107405_tm_carina_almeida.pdf: 3292734 bytes, checksum: 471739d256293068db73f2f75ba0cb21 (MD5) Previous issue date: 2014

A Genética Forense hoje é uma das principais ferramentas utilizadas em casos de identificação humana. Esta emprega as técnicas da biologia molecular para auxiliar na elucidação de crimes, principalmente na determinação da autoria deste. Contudo é sabido que a análise do DNA ainda é um exame de alto custo e que muitas vezes, em centros que não possuem um laboratório para esse fim, os mesmos têm que enviar as suas amostras para serem analisadas em outros locais, o que pode demorar meses até a obtenção do resultado. Como uma técnica aliada para a identificação humana, podemos incluir a Antropologia Forense, que vem a ser uma área de conhecimento que aplica os métodos da antropologia física e arqueologia para coleta e análise de evidências legais, buscando estabelecer a identidade de um ser humano. O exame antropológico forense consiste em traçar um perfil bioantropológico da vítima, incluindo: sexo, ancestralidade, idade, estatura, mão dominante (lateralidade), características dentárias, anomalias ósseas, patologias ósseas e características individuais. Com isso espera-se reduzir o número de análises de DNA forense, uma vez que a análise antropológica forense fornece dados que permite o direcionamento e a aplicação do exame de DNA para um indivíduo ou um grupo específico de pessoas. Com isto, também é possível a redução dos gastos de um laboratório de Genética Forense, pois também há a otimização dos resultados. A aplicação do protocolo para análise de ossadas do Laboratório de Antropologia Forense (LAF) serve como triagem para o exame de DNA forense. Este protocolo já é utilizado na Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo (FMRP/USP) e foi criado em 2005, em um projeto entre a University of Sheffield (UK) e o Centro de Medicina Legal (CEMEL) da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo (FMRP/USP). Com os resultados bioantropológicos de um exame de antropologia forense é possível reduzir o número de amostras para que seja feito um exame de DNA, sendo possível reduzir o tempo e o custo de um exame dessa natureza. Isso é demonstrado na análise de caso apresentada aqui.

The allelic and haplotype frequencies of 17 Y-STR loci most commonly used in forensic testing were estimated in a sample of 138 unrelated healthy males from Macapá, in the northern Amazon region of Brazil. The average gene diversity was 0.6554 ± 0.3315. 134 haplotypes of the 17 loci were observed, 130 of them unique and four present in two individuals each. The haplotype diversity index was 0.9996 + 0.0009, with the most frequent haplogroups being R1b (52.2%), E1b1b (11.6%), J2 (10.1%) and Q (7.2%). Most haplogroups of this population belonged to European male lineages (89.2%), followed by Amerindian (7.2%) and African (3.6%) lineages.

Poster apresentado no 19th IAFS World Meeting, 9th WPMO Triennial Meeting, 5th MAFS Meeting, Funchal (Portugal), 14-16 de Setembro de 2011 Allele frequencies and other relevant forensic parameters of 15 loci studied with Applied Biosystems AmpFlSTRs NGM Kit were calculated in a population of individuals residing in the South of Portugal. Blood stain samples were obtained from a total of 350 unrelated individuals involved in paternity testing casework. This new kit has five loci not present in any other kit used in our laboratory (Promega Powerplex 16 System and Applied Biosystems Identifiler Plus): D10S1248, D22S1045, D2S441, D1S1656 and D12S391. The NGM multiplex kit is used in our forensic casework as an auxiliary screening tool to solve deficient casework such as fatherless paternity testing, and to help in paternity investigations with one genetic incompatibility after the routine seventeen loci typing. Furthermore, this five loci included in the European Standard Set are also recommended by the European Network of Forensic Science Institutes (ENFSI) and the European DNA Profiling group (EDNAP). These studies are necessary to calculate statistical forensic parameters such as power of discrimination, power of exclusion or minimum allele frequencies. Statistical parameters such as heterozigoty, homozigoty or allele frequencies were determined with Arlequim V3.5 and results compared with the ones reported in previous similar studies. As final remark, is important to remember that this kind of study is highly important for the Forensic Laboratories accreditation achievement N/A