Performance of a 74-Microhaplotype Assay in Kinship Analyses.

Microhaplotypes (MHs) consisting of multiple SNPs and indels on short stretches of DNA are new and interesting loci for forensic genetic investigations. In this study, we analysed 74 previously defined MHs in two of the populations that our laboratory provides with forensic genetic services, Danes and Greenlanders. In addition to the 229 SNPs that originally made up the 74 MHs, 66 SNPs and 3 indels were identified in the two populations, and 45 of these variants were included in new definitions of the MHs, whereas 24 SNPs were considered rare and of little value for case work. The average effective number of alleles (Ae) was 3.2, 3.0, and 2.6 in Danes, West Greenlanders, and East Greenlanders, respectively. High levels of linkage disequilibrium were observed in East Greenlanders, which reflects the characteristics of this population that has a small size, and signs of admixture and substructure. Pairwise kinship simulations of full siblings, half-siblings, first cousins, and unrelated individuals were performed using allele frequencies from MHs, STRs and SNPs from Danish and Greenlandic populations. The MH panel outperformed the currently used STR and SNP marker sets and was able to differentiate siblings from unrelated individuals with a 0% false positive rate and a 1.1% false negative rate using an LR threshold of 10,000 in the Danish population. However, the panel was not able to differentiate half-siblings or first cousins from unrelated individuals. The results generated in this study will be used to implement MHs as investigative markers for relationship testing in our laboratory.

Microsatellites' mutation modeling through the analysis of the Y-chromosomal transmission: Results of a GHEP-ISFG collaborative study.

The Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) organized a collaborative study on mutations of Y-chromosomal short tandem repeats (Y-STRs). New data from 2225 father-son duos and data from 44 previously published reports, corresponding to 25,729 duos, were collected and analyzed. Marker-specific mutation rates were estimated for 33 Y-STRs. Although highly dependent on the analyzed marker, mutations compatible with the gain or loss of a single repeat were 23.2 times more likely than those involving a greater number of repeats. Longer alleles (relatively to the modal one) showed to be nearly twice more mutable than the shorter ones. Within the subset of longer alleles, the loss of repeats showed to be nearly twice more likely than the gain. Conversely, shorter alleles showed a symmetrical trend, with repeat gains being twofold more frequent than reductions. A positive correlation between the paternal age and the mutation rate was observed, strengthening previous findings. The results of a machine learning approach, via logistic regression analyses, allowed the establishment of algebraic formulas for estimating the probability of mutation depending on paternal age and allele length for DYS389I, DYS393 and DYS627. Algebraic formulas could also be established considering only the allele length as predictor for DYS19, DYS389I, DYS389II-I, DYS390, DYS391, DYS393, DYS437, DYS439, DYS449, DYS456, DYS458, DYS460, DYS481, DYS518, DYS533, DYS576, DYS626 and DYS627 loci. For the remaining Y-STRs, a lack of statistical significance was observed, probably as a consequence of the small effective size of the subsets available, a common difficulty in the modeling of rare events as is the case of mutations. The amount of data used in the different analyses varied widely, depending on how the data were reported in the publications analyzed. This shows a regrettable waste of produced data, due to inadequate communication of the results, supporting an urgent need of publication guidelines for mutation studies.

Longitudinal changes and variation in human DNA methylation analysed with the Illumina MethylationEPIC BeadChip assay and their implications on forensic age prediction.

DNA methylation, a pivotal epigenetic modification, plays a crucial role in regulating gene expression and is known to undergo dynamic changes with age. The present study investigated epigenome-wide methylation profiles in 64 individuals over two time points, 15 years apart, using the Illumina EPIC850k arrays. A mixed-effects model identified 2821 age-associated differentially methylated CpG positions (aDMPs) with a median rate of change of 0.18% per year, consistent with a 10-15% change during a human lifespan. Significant variation in the baseline DNA methylation levels between individuals of similar ages as well as inconsistent direction of change with time across individuals were observed for all the aDMPs. Twenty-three of the 2821 aDMPs were previously incorporated into forensic age prediction models. These markers displayed larger changes in DNA methylation with age compared to all the aDMPs and less variation among individuals. Nevertheless, the forensic aDMPs also showed inter-individual variations in the direction of DNA methylation changes. Only cg16867657 in ELOVL2 exhibited a uniform direction of the age-related change among the investigated individuals, which supports the current knowledge that CpG sites in ELOVL2 are the best markers for age prediction.

Development of an Okinawa panel for biogeographic inference of Okinawans.

BACKGROUND: The Precision ID Ancestry Panel with 165 SNP markers was unable to differentiate between mainland Japanese and Okinawa Japanese or to distinguish either of them from other East Asian populations. AIM: An Okinawa panel was developed with the aim of further separating Okinawa Japanese individuals from mainland Japanese and other Asian groups. Seventy-five SNPs were selected using the most informative markers from the literature. Further, 22 SNPs were selected to separate Okinawa Japanese at minimum SNPs. SUBJECTS AND METHODS: Samples were collected from 48 unrelated individuals from mainland Japan and 46 unrelated residents of the Okinawa prefecture. Data were evaluated by STRUCTURE, principal component, and GenoGeographer analyses. RESULTS: The 22 SNP set had similar levels of differentiation in STRUCTURE and PCA analyses as the 75 SNP set. GenoGeographer analysis showed that, out of the 46 Okinawa Japanese individuals, the 75 SNP and 22 SNP sets correctly assigned the Okinawan population as the most likely population of origin for 32 and 31 individuals, respectively. CONCLUSION: Neither SNP set could completely differentiate between Okinawa Japanese and other Asian groups, however, these sets should be useful for crime investigation, when the sample, cost and time are limited.

SNPtotree-Resolving the Phylogeny of SNPs on Non-Recombining DNA.

Genetic variants on non-recombining DNA and the hierarchical order in which they accumulate are commonly of interest. This variant hierarchy can be established and combined with information on the population and geographic origin of the individuals carrying the variants to find population structures and infer migration patterns. Further, individuals can be assigned to the characterized populations, which is relevant in forensic genetics, genetic genealogy, and epidemiologic studies. However, there is currently no straightforward method to obtain such a variant hierarchy. Here, we introduce the software SNPtotree v1.0, which uniquely determines the hierarchical order of variants on non-recombining DNA without error-prone manual sorting. The algorithm uses pairwise variant comparisons to infer their relationships and integrates the combined information into a phylogenetic tree. Variants that have contradictory pairwise relationships or ambiguous positions in the tree are removed by the software. When benchmarked using two human Y-chromosomal massively parallel sequencing datasets, SNPtotree outperforms traditional methods in the accuracy of phylogenetic trees for sequencing data with high amounts of missing information. The phylogenetic trees of variants created using SNPtotree can be used to establish and maintain publicly available phylogeny databases to further explore genetic epidemiology and genealogy, as well as population and forensic genetics.

Pitfalls and challenges with population assignments of individuals from admixed populations: Applying Genogeographer on Brazilian individuals.

The assignment of individuals to a population can be of importance for the identification of mass disaster victims or criminal offenders in the field of forensic genetics. This assignment is based on biostatistical methods that process data of ancestry informative markers (AIMs), which are selected based on large allele frequency differences between the populations of interest. However, population assignments of individuals with an admixed genetic background are challenging. Admixed individuals are genetic mosaics of chromosomal segments from the parental populations, which may lead to ambiguous or no population assignment. This is problematic since admixture events are a substantial part of human history. In this study, we present challenges of interpreting the evidential weight of population assignments. We used Genogeographer for likelihood ratio (LR) calculations and Brazilians as examples of admixed individuals. Brazilians are a very heterogenous population representing a three-way admixture between Native Americans, Europeans, and Africans. Ancestry informative markers were typed in a total of 589 individuals from Brazil using the Precision ID Ancestry Panel. The Brazilians were assigned to six metapopulations (East Asia, Europe, Middle East, North Africa, South-Central Asia, Sub-Saharan Africa) defined in the Genogeographer software and LRs were calculated if the AIM profile was not an outlier in all metapopulations and simulated two-way (1:1) admixtures of the six metapopulations. Population assignments failed for 55% of the samples. These samples had significantly higher genetic contributions from East Asia, South-Central Asia and Sub-Saharan Africa, and significantly lower genetic contributions from Europe. Most of the individuals with population assignments were assigned to the metapopulations of Middle East (58%) or North Africa (36%), followed by Europe (4%), South-Central Asia (1%), and Sub-Saharan Africa (1%). For 8% of the samples, population assignments were only possible when assignments to simulated two-way (1:1) admixtures of the six metapopulations were considered. Most of these individuals were assigned to two-way admixtures of North Africa, South-Central Asia, or Sub-Saharan Africa. Relatively low median likelihood ratios (LRs<1000) were observed when comparing population likelihoods for Europe, Middle East, North Africa, South-Central Asia, or simulated 1:1 admixtures of these metapopulations. Comparisons including East Asian or Sub-Saharan African populations resulted in larger median LRs (LR>1010). The results suggested that the Precision ID Ancestry Panel provided too little information and that additional markers specifically selected for sub-continental differentiation may be required for accurate population assignment of admixed individuals. Furthermore, a Genogeographer database with additional populations including admixed populations would be advantageous for interpretation of admixed AIM profiles. It would likely increase the number of population assignments and illustrate alternatives to the most likely population, which would be valuable information for the case officer when writing the case report.

Montreal Cognitive Assessment (MoCA): A validation study among prisoners.

BACKGROUND: There are numerous scales for screening cognitive performance and thus identification of any potential deficits, but in spite of the vulnerability of the prison population to such problems, there has been no adequate validation of screening tools specifically for use with prisoners or others in the criminal justice system. AIM: To validate the Montreal Cognitive Assessment (MoCA) for use with prisoners. METHODS: 100 adult prisoners in one Portuguese prison were randomly invited by clinicians to take part in this study. A same size sample of community-living adult non-offenders of similar age was selected from the MoCA's normative study database in Portugal. For both groups, the key inclusion criterion was fluency in the Portuguese language. All participants completed the Mini Mental State Examination (MMSE) and the MoCA, both in Portuguese translation. Cronbach's alpha coefficient was calculated as an index of internal consistency and Pearson's r correlations calculated. Group performances were compared using independent samples t-test. Covariance analysis (ANCOVA) was computed with level of education as covariate. To measure the magnitude of the effect, η p 2 ${\eta }_{p}^{2}$ was used. A receiver operating characteristics curve analysis was computed to evaluate the discriminatory accuracy of MoCA and MMSE. RESULTS: The MoCA showed a 'reasonable' internal consistency index (α = 0.75) as well as positive and significant correlations with the MMSE. As a cognitive measure, however, the MoCA showed consistently superior psychometric properties and higher discriminatory accuracy (MoCA = 89%) than the MMSE (65%). According to the Youden index, the optimal cut-off point for the MoCA is below 24 points, whereas for the MMSE, it is below 27. CONCLUSIONS: The MoCA is a valid cognitive screening tool for use with prisoners. Further validations against detailed cognitive evaluation would be a useful next step.

Prediction of chronological age and its applications in forensic casework: methods, current practices, and future perspectives.

Estimating an individual's age can be relevant in several areas primarily related to the clinical and forensic fields. In the latter, estimation of an individual's chronological age from biological material left by the perpetrator at a crime scene may provide helpful information for police investigation. Estimation of age is also beneficial in immigration cases, where age can affect the person's protection status under the law, or in disaster victim identification to narrow the list of potential missing persons. In the last decade, research has focused on establishing new approaches for age prediction in the forensic field. From the first forensic age estimations based on morphological inspections of macroscopic changes in bone and teeth, the focus has shifted to molecular methods for age estimation. These methods allow the use of samples from human biological material that does not contain morphological age features and can, in theory, be investigated in traces containing only small amounts of biological material. Molecular methods involving DNA analyses are the primary choice and estimation of DNA methylation levels at specific sites in the genome is the most promising tool. This review aims to provide an overview of the status of forensic age prediction using molecular methods, with particular focus in DNA methylation. The frequent challenges that impact forensic age prediction model development will be addressed, together with the importance of validation efforts within the forensic community.

Orchid Micropropagation Using Conventional Semi-Solid and Temporary Immersion Systems: A Review.

Orchids, with their astonishingly stunning flowers, dominate the international floricultural market. They are considered prized assets for commercial applications in pharmaceutical and floricultural industries as they possess high therapeutic properties and superior ornamental values. The alarming depletion of orchid resources due to excessive unregulated commercial collection and mass habitat destruction makes orchid conservation measures an extreme priority. Conventional propagation methods cannot produce adequate number of orchids, which would meet the requirement of these ornamental plants for commercial and conservational purposes. In vitro orchid propagation using semi-solid media offers an outstanding prospect of rapidly producing quality plants on a large scale. However, the semi-solid (SS) system has shortcomings with low multiplication rates and high production costs. Orchid micropropagation using a temporary immersion system (TIS) overcomes the limitations of the SS system by reducing production costs and making scaleup and full automation possible for mass plant production. The current review highlights different aspects of in vitro orchid propagation using SS and TIS and their benefits and drawbacks on rapid plant generation.

Safety and Quality of Canned Sardines after Opening: A Shelf-Stability Study.

This study aimed to define the shelf life of canned sardines after opening to increase consumer awareness of their quality and safety and reduce food waste. For this purpose, canned sardines (Sardina pilchardus) packed with different sauces were opened and stored at 4 °C for 7 days. Microbiological, sensorial, physical and chemical stability was monitored daily by standard methodologies. Results show that the overall quality and safety are highly dependent on the sauce type. To preserve their full quality, sardines in brine and in vegetable oil should be consumed up to 1 day after opening, while sardines in tomato sauce were stable for up to 3 days, although none were considered nonedible up to the 7th day. Many parameters demonstrated statistical differences and correlations with storage, although they were not as decisive as sensory evaluation. This integrated approach should be adopted by the food industry and regulating authorities to provide information to consumers regarding the quality and safety of handled goods.

Testing the Ion AmpliSeq™ HID Y-SNP Research Panel v1 for performance and resolution in admixed South Americans of haplogroup Q.

Y haplogroups, defined by Y-SNPs, allow the reconstruction of the human Y chromosome genealogy, which is important for population, evolutionary and forensic genetics. In this study, Y-SNPs were typed and haplogroups inferred with the MPS Ion AmpliSeq™ HID Y-SNP Research Panel v1, as a high-throughput approach. Firstly, the performance of the panel was evaluated with different DNA input amounts, reagent volumes and cycle numbers. DNA-inputs from 0.5 to 1 ng generated the most balanced read depth. Combined with full reagent and 19 cycles, this offered the highest number of amplicons with a sequencing read depth of at least 20 reads. Secondly, the sub-haplogroups of 182 admixed South Americans and Greenlanders belonging to haplogroup Q were inferred and tested for potential improvement in resolution. Most samples were assigned to lineage Q-M3 with some samples assigned to lineages upstream (Q-M346, L56, L57; Q-L331, L53; Q-L54; Q-CTS11969, CTS11970) or parallel (Q-L330, L334; Q-Z780/M971) to Q-M3. Only one sample was assigned to a downstream lineage (Q-Z35615, Z35616). Most individuals of haplogroup Q with NAM ancestry could neither be distinguished from each other, nor from half of the Greenlandic samples. Typing additional, known SNPs within lineage Q-M3, Z19483 and SA05, increased the resolution of predicted haplogroups. The search for novel variants in the sequenced regions allowed the detection of 42 variants and the subdivision of lineage Q-M3 into new subclades. The variants found in six of these subclades were exclusive to certain South American countries. In light of the limited differentiation of haplogroup Q samples, the additional information on known or novel SNPs disclosed in this study when using MPS Ion AmpliSeq™ HID Y-SNP Research Panel v1 should be included in the Yleaf software, to increase the differentiation of lineage Q-M3.

Genetic analysis of sixteen autosomal STR loci in three Tunisian populations from Makthar, Nabeul and Sousse.

BACKGROUND: Due to its strategic location, Tunisia witnessed the succession and influence of many civilisations throughout history. However, the majority of studies carried out on Tunisia are focussed on Barbarian ethnicity. AIM: To estimate genetic diversity and genetic structure of three Tunisian populations using autosomal STRs. SUBJECTS AND METHODS: 278 individuals were analysed for sixteen STRs. Allele frequencies and statistical parameters were determined. RESULTS: The studied populations showed genetic affinity with geographically close populations. AMOVA showed no genetic difference between the Tunisian populations. Nevertheless, the variance between the populations of the same group was significant, reflecting their heterogeneity even though they came from the same geographical area, and had the same ethnicity and complex demographic history. CONCLUSION: Our results strongly supported the application of autosomal genetic markers in anthropological and forensic studies. The analyses conducted at the 15-loci level provide the resolution to assess the phylogenetic relationships among the populations examined and other geographically targeted worldwide populations, while the results resulting from the 10-loci studies provide an understanding of the relationships and origins of the North African populations. Furthermore, the current report demonstrates that the battery of autosomal STRs reported are useful, providing the power of discrimination for forensic and paternity analyses.

Evaluation of a custom GeneRead™ massively parallel sequencing assay with 210 ancestry informative SNPs using the Ion S5™ and MiSeq platforms.

A custom GeneRead DNAseq SNP panel with 210 markers was evaluated using the Ion S5 and MiSeq sequencing platforms. Sensitivity, PCR cycle number, and the use of half volume of reagents for target enrichment and library preparation were tested. Furthermore, genotype concordance between results obtained with the different sequencing platforms and with known profiles generated using other sequencing assays was analysed. The GeneRead DNASeq SNP assay gave reproducible results with an input of 200 pg DNA on both platforms. A total of 204 loci were successfully sequenced. Three loci failed completely in the PCR amplification, and three additional loci displayed frequent locus drop-outs due to low read depth or high heterozygote imbalance. Overall, the read depth across the loci was more well-balanced with the MiSeq, while the heterozygote balance was less variable with the Ion S5. Noise levels were low on both platforms (median< 0.2 %). Two simple criteria for genotyping were applied: A minimum threshold of 45 reads and an acceptable heterozygote balance range of 0.3-3.0. Complete concordance between platforms was observed except for three genotypes in one of the poorly performing loci, rs1470637. This locus had relatively low read depths on both platforms, skewed heterozygote balance, and frequent locus drop-outs. There was also full genotype concordance between the results from the GeneRead assay and known profiles generated with the QIAseq and Ion AmpliSeq assays. The few discordant results were either due to locus drop-outs in the poorly performing loci or allele drop-outs in the QIAseq assay. Profiles with a minimum of 179 SNPs were obtained from four challenging case work samples (blood swabs, bone, or blood from a corpse). Overall, the GeneRead DNASeq assay showed considerable potential and could provide a reliable method for SNP genotyping in cases involving identification of individuals, prediction of phenotypic traits, and ancestry inference.

Evaluation of the Precision of Ancestry Inferences in South American Admixed Populations.

Ancestry informative markers (AIMs) are used in forensic genetics to infer biogeographical ancestry (BGA) of individuals and may also have a prominent role in future police and identification investigations. In the last few years, many studies have been published reporting new AIM sets. These sets include markers (usually around 100 or less) selected with different purposes and different population resolutions. Regardless of the ability of these sets to separate populations from different continents or regions, the uncertainty associated with the estimates provided by these panels and their capacity to accurately report the different ancestral contributions in individuals of admixed populations has rarely been investigated. This issue is addressed in this study by evaluating different AIM sets. Ancestry inference was carried out in admixed South American populations, both at population and individual levels. The results of ancestry inferences using AIM sets with different numbers of markers among admixed reference populations were compared. To evaluate the performance of the different ancestry panels at the individual level, expected and observed estimates among families and their offspring were compared, considering that (1) the apportionment of ancestry in the offspring should be closer to the average ancestry of the parents, and (2) full siblings should present similar ancestry values. The results obtained illustrate the importance of having a good balance/compromise between not only the number of markers and their ability to differentiate ancestral populations, but also a balanced differentiation among reference groups, to obtain more precise values of genetic ancestry. This work also highlights the importance of estimating errors associated with the use of a limited number of markers. We demonstrate that although these errors have a moderate effect at the population level, they may have an important impact at the individual level. Considering that many AIM-sets are being described for inferences at the individual level and not at the population level, e.g., in association studies or the determination of a suspect's BGA, the results of this work point to the need of a more careful evaluation of the uncertainty associated with the ancestry estimates in admixed populations, when small AIM-sets are used.

Skin pigmentation and genetic variants in an admixed Brazilian population of primarily European ancestry.

Although many genes have been shown to be associated with human pigmentary traits and forensic prediction assays exist (e.g. HIrisPlex-S), the genetic knowledge about skin colour remains incomplete. The highly admixed Brazilian population is an interesting study population for investigation of the complex genotype-phenotype architecture of human skin colour because of its large variation. Here, we compared variants in 22 pigmentary genes with quantitative skin pigmentation levels on the buttock, arm, and forehead areas of 266 genetically admixed Brazilian individuals. The genetic ancestry of each individual was estimated by typing 46 AIM-InDels. The mean proportion of genetic ancestry was 68.8% European, 20.8% Sub-Saharan African, and 10.4% Native American. A high correlation (adjusted R2 = 0.65, p < 0.05) was observed between nine SNPs and quantitative skin pigmentation using multiple linear regression analysis. The correlations were notably smaller between skin pigmentation and biogeographic ancestry (adjusted R2 = 0.45, p < 0.05), or markers in the leading forensic skin colour prediction system, the HIrisPlex-S (adjusted R2 = 0.54, p < 0.05). Four of the nine SNPs, OCA2 rs1448484 (rank 2), APBA2 rs4424881 (rank 4), MFSD12 rs10424065 (rank 8), and TYRP1 1408799 (rank 9) were not investigated as part of the HIrisPlex-S selection process, and therefore not included in the HIrisPlex-S model. Our results indicate that these SNPs account for a substantial part of the skin colour variation in individuals of admixed ancestry. Hence, we suggest that these SNPs are considered when developing future skin colour prediction models.

Paternal and maternal mutations in X-STRs: A GHEP-ISFG collaborative study.

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.

Ancestry prediction efficiency of the software GenoGeographer using a z-score method and the ancestry informative markers in the Precision ID Ancestry Panel.

We compared the efficiency of the freely available software GenoGeographer that includes a z-score based analysis with that of a naïve method based on the maximal likelihoods of 164 of the 165 ancestral informative markers (AIM) that are included in the commercially available kit Precision ID Ancestry Panel from Thermo Fisher Scientific. The AIM profiles were obtained by investigations with the Precision ID Ancestry Panel in our laboratory and from SNP data in the literature and publically available databases. We established eight well-defined AIM reference population data sets from 3603 AIM profiles. Six reference populations with profiles from multiple populations (Sub-Saharan Africa, North Africa, Middle East, Europe, South/Central Asia, East Asia), and two populations with individuals with admixed ancestry (Somalia and Greenland). By means of GenoGeographer and naïve calculations of the maximal likelihoods, 566 AIM profiles from individuals that were not included in the reference populations and expected to belong to one of the eight reference populations were tested. An initial standard z-score based test with GenoGeographer demonstrated that 22.4% of the individuals could not be assigned to any of the reference populations. Among the remaining 77.6% of the individuals, 83.6% were assigned to the reference population that was concordant with the specified populations of origin of the individuals, 8.2% had ambiguous assignments because they could belong to both the specified population of origin and one or more of the other populations, and 8.2% were assigned to a reference population that was discordant from the specified population of origin. A naïve assignment based on the maximal likelihood resulted in 78.1% concordant and 21.9% discordant assignments. The results demonstrate that the z-score analysis with GenoGeographer can reduce the error rate with a factor of almost three compared with that of the naïve estimation based on the maximal likelihoods of the AIM profiles. The Precision ID Ancestry Panel is a useful kit for the assignment of ancestry of the eight investigated populations that included two admixed populations. More AIMs with better discrimination and more data on the distribution of AIMs in relevant populations are needed to improve the efficiency of genogeographic prediction with AIMs on a worldwide basis.

Genetic relationships of European, Mediterranean, and SW Asian populations using a panel of 55 AISNPs.

The set of 55 ancestry informative SNPs (AISNPs) originally developed by the Kidd Lab has been studied on a large number of populations and continues to be applied to new population samples. The existing reference database of population samples allows the relationships of new population samples to be inferred on a global level. Analyses show that these autosomal markers constitute one of the better panels of AISNPs. Continuing to build this reference database enhances its value. Because more than half of the 25 ethnic groups recently studied with these AISNPs are from Southwest Asia and the Mediterranean region, we present here various analyses focused on populations from these regions along with selected reference populations from nearby regions where genotype data are available. Many of these ethnic groups have not been previously studied for forensic markers. Data on populations from other world regions have also been added to the database but are not included in these focused analyses. The new population samples added to ALFRED and FROG-kb increase the total to 164 population samples that have been studied for all 55 AISNPs.

Necropsia médico - legal em idosos: causas jurídicas e médicas de mortalidade / Medical and legal necropsy in the elderly: causes legal and medical mortality

Objetivo: verificar as principais causas jurídicas e médicas de mortalidade em idosos em uma unidade médico-legal do estado de São Paulo, além dos principais locais de ocorrência, do óbito e características da população. Método: Estudo quantitativo, retrospectivo e de análise documental. Os dados foram colhidos de laudos necroscópicos de indivíduos com sessenta anos e mais nos anos de 2010 a 2015. Resultados: As principais causas jurídicas de óbito foram acidentes e mortes naturais, e as causas médicas mais comuns, quedas e acidentes de trânsito. A lesão fatal mais frequente foi traumatismo cranioencefálico, ocupando as causas naturais o terceiro lugar. A residência do idoso foi cenário importante das ocorrências. As características predominantes foram sexo masculino, idade entre 60 e 69 anos, cor branca e estado civil casado. Conclusão: As informações obtidas são de grande valor ao planejamento de ações em segurança pública e saúde dirigidas especialmente aos idosos, contribuindo para o ensino em saúde.

Objective: to verify the main judicial and medical causes of mortality in the elderly in a medical-legal unit in the state of São Paulo, the main places of occurrence, death and characteristics of the population. Method: Quantitative study, retrospective, and analysis of documents. The data was collected from necroscopic reports of individuals aged sixty years old and/or older from 2010 to 2015. Results: The main legal causes of death were accidents and natural deaths, and the most common medical causes, falls and traffic accidents. The most frequent fatal injury was cranioencephalic trauma, being in the third place among the natural causes. The house of the elderly was an important scenario of occurrences. The predominant characteristics were male, age between 60 and 69 years old, white and married. Conclusion: The information obtained is of great value in the planning of actions in safety and health public areas directed especially to the elderly, contributing to health education.

Objetivo: verificar las principales causas jurídicas y médicas de mortalidad en ancianos en una unidad médico-legal del estado de São Paulo, además de los principales lugares de acontecimiento, del óbito y características de la población. Método: Estudio cuantitativo, retrospectivo, de análisis documental. Los datos fueron recolectados de laudos necroscópicos de individuos con sesenta años y más en los años de 2010 a 2015. Resultados: Las principales causas jurídicas de defunción fueron accidentes y muertes naturales, y las causas médicas más comunes, caídas y accidentes de tránsito. La lesión fatal más frecuente fue traumatismo craneoencefálico, ocupando en las causas naturales el tercer lugar. La residencia del anciano fue escenario importante de las ocurrencias. Las características predominantes fueron sexo masculino, edad entre 60 y 69 años, color blanco y estado civil casado. Conclusión: Las informaciones obtenidas son de gran valor al planeamiento de acciones en seguridad pública y salud dirigidas especialmente a los ancianos, contribuyendo a la enseñanza en salud.

Os jogos das crianças nos recreios das escolas do 1º ciclo do ensino básico do norte de Portugal / Children's games during school recess in the first cycle of basic education in northern Portugal / Los juegos de los niños en los recreos de las escuelas del primer ciclo de la enseñanza básica del norte de Portugal

Este estudo teve como objetivo identificar os jogos realizados e preferidos nos recreios das escolas do 1º ciclo, fazendo a diferenciação entre género e ano de escolaridade. Foi aplicado um questionário em duas escolas do 1º ciclo do ensino básico do norte de Portugal. A amostra foi constituída por 317 alunos dos 4 anos de escolaridade, dos quais 167 são rapazes e 150 raparigas. Verificamos que os jogos de "correr" e "caçadinhas" são os que se realizam com mais frequência, mas os rapazes também gostam muito de "futebol" e as raparigas de "conversar". O estudo confirma a pouca diversificação nos jogos realizados pelos alunos e, de acordo com os resultados, é necessário o enriquecimento das atividades lúdicas desenvolvidas pelas crianças utilizando novas intervenções lúdico-pedagógicas ou novos materiais no espaço de recreio

This study sought to identify the games played and preferred by children during school recess in the so-called first cycle, breaking that information down by gender and school year. A questionnaire was applied in two basic education schools in northern Portugal. The sample included 317 students from the four years in that stage ­ 167 boys and 150 girls. It found that "running" and "chasing" are the most frequent, even though boys prefer football while girls prefer talking. The study confirms low diversification in the games played by children and, according to its findings, children's playful activities must be enriched by using new playful-pedagogic interventions or new materials during recess

Este estudio tuvo como objetivo identificar los juegos realizados y preferidos por los niños en los recreos de las escuelas de primer ciclo, estableciendo una diferenciación entre el género y el año de escolaridad. Se aplicó un cuestionario en dos escuelas de enseñanza básica en Braga, norte de Portugal. La muestra estuvo formada por 317 alumnos de los cuatro años de escolaridad que dura la etapa, de los cuales 167 son niños y 150 son niñas. Se pudo comprobar que los juegos de "correr" y de "pillar" son los que se realizan con más frecuencia, aunque a los niños les gusta también mucho el fútbol y, a las niñas, conversar unas con otras. El estudio confirma la poca diversificación de los juegos realizados por el alumnado, haciéndose necesario un enriquecimiento de las actividades lúdicas desarrolladas por los niños, utilizando nuevas intervenciones lúdicopedagógicas o nuevos materiales para emplear en el espacio de recreo