Search

Engaging students actively in assessment, using a range of formative activities, consistently over sustained periods is a common recommendation in the assessment for learning literature. Despite this, practice still lags behind. Our case study aims to bridge the widening gap between theory and practice by illustrating the application of recent theoretical concepts in practice. The literature contains many examples and research on isolated events to engage students in assessment. Cases that explore engagement in different formative practices, over extended periods of time, are scarce and challenging for practitioners to implement in the absence of examples and evidence. Consequently, whilst adoption of theory informed practices remains limited, research also remains limited. Our case study aims to bridge the widening gap between practice and theory by elaborating a case example for practitioners. The redesign of a third year laboratory module, in which students undertake research projects, is presented. Our case illustrates how practitioners can incorporate assessment for learning principles, outlined in contemporary frameworks (evaluative judgement) considering process and a learning sequence over an entire year. The learning design of a module, before and after, is fully described to exemplify how practitioners can implement theoretical principles in practice. Students’ perception of the value of the new tasks were gathered to inform reflections for practitioners in the implementation of evaluative judgement.

At the University of Nottingham peer-assessment was piloted with the objective of assisting students to gain greater understanding of marking criteria so that students may improve their comprehension of, and solutions to, future mathematical tasks. The study resulted in improvement in all four factors of observation, emulation, self-control and self-regulation thus providing evidence of a positive impact on student learning.The pilot involved a large first-year mathematics class who completed a formative piece of coursework prior to a problem class. At the problem class students were trained in the use of marking criteria before anonymously marking peer work. The pilot was evaluated using questionnaires (97 responses) at the beginning and end of the problem class. The questionnaires elicited students’ understanding of criteria before and after the task and students’ self-efficacy in relation to assessment self-control and self-regulation.The analysis of students’ descriptions of the criteria of assessment show that their understanding of the requirements for the task were expanded. After the class, explanation of the method and notation (consistent and correct) were much more present in students’ descriptions. Furthermore, 67 per cent of students stated they had specific ideas on how to improve their solutions to problems in the future. Students’ self-perceived abilities to self-assess and improve were positively impacted. The pilot gives strong evidence for the use of peer-assessment to develop students’ competencies as assessors, both in terms of their understanding of marking criteria and more broadly their ability to self-assess and regulate their learning.

In spite of the rising tide of metrics in UK higher education, there has been scant attention paid to assessment loads, when evidence demonstrates that heavy demands lead to surface learning. Our study seeks to redress the situation by defining assessment loads and comparing them across research and teaching intensive universities. We clarify the concept of ‘assessment load’ in response to findings about high volumes of summative assessment on modular degrees. We define assessment load across whole undergraduate degrees, according to four measures: the volume of summative assessment; volume of formative assessment; proportion of examinations to coursework; number of different varieties of assessment. All four factors contribute to the weight of an assessment load, and influence students’ approaches to learning. Our research compares programme assessment data from 73 programmes in 14 UK universities, across two institutional categories. Research-intensives have higher summative assessment loads and...

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

Thirty autosomal insertion-deletion (InDel) polymorphisms were analyzed in four populations from Iraq, Lithuania, Slovenia, and Turkey using the commercial kit Investigator® DIPplex. Genotyping issues were encountered for five of the 30 InDels. They were most probably caused by polymorphisms located in the primer binding sites. Population and forensic parameters were calculated. No significant deviations from Hardy-Weinberg equilibrium or significant linkage disequilibrium were detected. The observed heterozygosities ranged from 33% to 61% depending on the marker and the population. The combined probability of exclusion for the 30 markers was 99.7% in all four populations and the matching probabilities were 1 in 3-4×1012 individuals. The multidimensional scaling plot drawn from FST distances showed a good concordance between the relative position of the 15 populations included in the plot and their geographic locations.

A total of 255 individuals (Persians, Lurs, Kurds and Azeris) from Iran were typed for three sets of forensic genetic markers with the NGM SElect™, DIPplex(®) and Argus X-12 kits. Statistically significant deviations (P≤0.002) from Hardy-Weinberg expectations were observed for the insertion-deletion markers HLD97 and HLD93 after Holm-Sidak correction. Statistically significant (P

A population sample of 223 Greek individuals was typed for five sets of forensic genetic markers with the kits NGM SElect™, SNPforID 49plex, DIPplex®, Argus X-12 and PowerPlex® Y23. No significant deviation from Hardy-Weinberg expectations was observed for any of the studied markers after Holm-Sidak correction. Statistically significant (P

Evidence from 73 programmes in 14 U.K universities sheds light on the typical student experience of assessment over a three-year undergraduate degree. A previous small-scale study in three universities characterised programme assessment environments using a similar method. The current study analyses data about assessment patterns using descriptive statistical methods, drawing on a large sample in a wider range of universities than the original study. Findings demonstrate a wide range of practice across programmes: from 12 summative assessments on one programme to 227 on another; from 87% by examination to none on others. While variations cast doubt on the comparability of U.K degrees, programme assessment patterns are complex. Further analysis distinguishes common assessment patterns across the sample. Typically, students encounter eight times as much summative as formative assessment, a dozen different types of assessment, more than three quarters by coursework. The presence of high summative and low formative assessment diets is likely to compound students’ grade-orientation, reinforcing narrow and instrumental approaches to learning. High varieties of assessment are probable contributors to student confusion about goals and standards. Making systematic headway to improve student learning from assessment requires a programmatic and evidence-led approach to design, characterised by dialogue and social practice.

BACKGROUND: The analysis of X-chromosome markers can be valuable in particular situations, for example, deficiency kinship cases, where the putative father cannot be typed. X-chromosome short-tandem repeats (X-STRs) are widely used in forensic genetics, while the use of X-chromosome single-nucleotide polymorphisms (X-SNPs) is still limited. STUDY DESIGN AND METHODS: The forensic usefulness of a set of 25 SNPs located across the X-chromosome was analyzed in 13 populations. The applicability of the 25 X-SNPs in kinship testing was illustrated in two immigration cases where the conclusions based on the analysis of 15 autosomal STRs were ambiguous and, in one of the cases, misleading. The samples in the two cases were also typed for eight X-STRs, 52 autosomal SNPs, and seven autosomal variable number of tandem repeats. RESULTS: The combined power of discrimination of the 25 X-chromosome markers varied from one in 1.7 × 106 males to one in 7.8 × 109 females and the combined mean chance of exclusion varied between 99.78% in duos to 99.998% in trios. In the two immigration cases, the use of X-linked markers increased the number of genetic inconsistencies and the cases could be solved. The usefulness of X-chromosome markers was particularly illustrative in Case 1, where the typing of 25 X-SNPs would have been sufficient to exclude paternity. CONCLUSION: The high level of polymorphism, low degree of linkage disequilibrium, and very low probability of mutation of the 25 X-SNPs makes this set of markers suitable as a supplementary set of markers in relationship testing.

This paper starts with a short introduction to the project, before discussing and illustrating new teaching resources which will be available for use across a wide range of disciplines. We are offering these for participants to use with their own students. The paper concludes with a summary of our three part evaluation process. This project aims to bridge the gap between the experience of students on courses in higher education and the expectations of employers. Our starting point was to interview employers about the problems that newly qualified graduates experience and rather than merely present this as a list of skills, we then captured these as critical incidents. In doing so the project team, working with our employers, have produced resources which illustrate a range of critical incidents which provide triggers towards deeper learning and the development of transferable employability skills, using a range of high and low technological solutions. The result is a suite of resources which address eight themes including issues as diverse as networking, managing ethical dilemmas and dealing with extreme emotions. These are available for use and adaptation in the full range of academic disciplines. The project has been evaluated in a three way process, including evaluation by and of the project team, evaluation of the project as a whole and finally evaluation of the individual products. The accompanying paper explores each of the processes for investigating, developing and evaluating the project in greater depth and analysis. © Common Ground, Anne Hill, Celia Popovic, Ruth Lawton, Jenny Eland, Nick Morton, Rachel Curzon, Diana Eastcott, Carmen Tomas, All Rights Reserved.

Single nucleotide polymorphism genotyping provides a supplement for conventional short tandem repeats-based kits currently used for human identification. GenPlex (Applied Biosystems (AB), Foster City, CA) is an SNP-genotyping kit based on a multiplex of 48 informative, autosomal SNPs from the SNP forID Consortium. Our objective was to setup, implement, and validate a small and affordable automated liquid-handling robot for forensic casework samples (buccal swaps on FTA-paper and Qiagen purified blood). The reaction scheme consisted of numerous steps and was cumbersome to perform consistently manually. Automation was accomplished with a Biomek-3000 (Beckmann Coulter) laboratory-automated workstation using five in-house-developed methods. All methods allowed the user to select the number of subsequent injections to the capillary electrophoresis instrument (ABI 3130 xl, AB) enabling processing of both partial and full plates. A total of 286 samples were analyzed in duplicates with the GenPlex reaction using the Biomek-3000. The results were compared with those obtained from the same samples using the SNaPshot(AB) single-base extension system. Full concordance of the results was obtained in all but one sample. The results demonstrate that the Biomek-3000 can perform a series of complex reactions leading to highly consistent forensic genetic SNP-typing results.

The Balearic archipelago (Majorca, Minorca, and Ibiza islands and the Chuetas, a small and inbred community of descendants of Sephardic Jews) and Valencia were studied by means of the sequencing of a 404-bp segment of hypervariable region I (HVRI) mtDNA in 231 individuals. In total, 127 different haplotypes defined by 92 variable positions were identified. The incidence of unique haplotypes was very low, especially in Ibiza and the Chuetas. A remarkable observation in the Chueta community was the high frequency (23%) of preHV-1, a Middle Eastern lineage that is closely related, though not identical, to many others found at high frequencies in different Jewish populations. The presence of this haplogroup convincingly supported the Jewish origin of the Chueta community. The studied populations showed a reduced African contribution, and no individuals were detected with North African haplogroup U6, indicating a lack of maternal contribution from the Moslem settlement to these populations. Only Ibiza showed a lower diversity, indicating a possible genetic drift effect, also supported by the historical information known about this island. The variability in the sequence of mtDNA hypervariable region I correlated well with the existing information from the populations, with the exception of that of the Y-chromosome, which could indicate a differential contribution of the maternal and paternal lineages to the genetic pool of the Balearic Islands. The phylogenetic trees showed the intermediate position of the Chueta population between the Middle Eastern and Majorcan samples, confirming the Jewish origin of this population and their Spanish admixture.

A total of 124 Jewish individuals, categorized into four groups, have been analyzed for 13 STR loci. No significant differences between the groups were found, except for the FGA system. A high level of genetic variability was found in the overall population.

A total of 119 unrelated individuals from two of the major ethnic groups in Ecuador were typed for 49 of the autosomal single nucleotide polymorphisms (SNPs) in the SNPforID 52plex using the SNapShot(®) assay. Of the above, 42 samples originated from Mestizos (an admixed population) and the remaining 77 were from Native Amerindian Kichwas. We obtained full SNP profiles in all individuals and concordance of duplicated analyses. No deviation from Hardy-Weinberg equilibrium (HWE) was observed for any SNP in the Mestizo and Kichwa populations and only one and four pairs of loci, respectively showed significant linkage disequilibrium. A relatively low genetic diversity and global positive F(IS) value was observed in Kichwas. A statistically significant global F(ST) value was obtained when the two Ecuadorian populations were compared with populations in Spain, Portugal, Argentina, Denmark, Greenland, China, Somalia and Mozambique. All pairwise F(ST) values were statistically significant. A multi-dimensional scaling based on pairwise F(ST) values showed that the Kichwa population differed from all other populations investigated and that the Mestizos had an intermediate position between Kichwas and Europeans. An admixture analysis indicated that the greater contributor to the Mestizo population was the Kichwas (71.2%) compared to the European contribution. The combined mean match probability and mean paternity exclusion probability were 3.3 × 10(-17) and 0.998, respectively, for the Mestizo population and 3.3 × 10(-14) and 0.993, respectively, for the Kichwa population.

A concordance study of the results of PowerPlex ® ESI 17 and AmpFlSTR ® NGM SElect™ kits obtained from 591 individuals from Somalia ( N =198), Denmark ( N =199) and Greenland ( N =194) was performed. Among 9456 STR types, seven discordant results were found with the two kits: one observed in the D19S433 system in an individual from Denmark and six in the SE33 system in six individuals from Somalia. Sequencing of SE33 in the six samples with discordant results showed G>A transition 15bp downstream of the repeat unit in three of the individuals, and G>A transition 68bp downstream of the repeat unit in the other three individuals. Population data for 16 autosomal STR systems analyzed in 989 individuals from Somalia, Denmark and Greenland are also presented. The highest mean heterozygosity was observed in Danes (82.5%). With the exception of D8S1179 in Danes, no significant deviations from Hardy–Weinberg expectations were observed. Only one pair of systems (D12S391 and D18S51) showed significant allelic association in Greenlanders (after Holm-Sidak correction). A MDS plot drawn from pairwise F ST values calculated between 21 populations showed a clear displacement of the Greenlandic population versus the other ones included in the analyses. The highest combined chance of exclusion and power of discrimination was observed for Danes reaching values of 99.9999987% and 1 in 1.8×10 21 , respectively.

This paper addresses the problem of non-significant intention–behavior effects in educational technology adoption, based on a reanalysis of data from the Impact09 project, a UK-government funded evaluation of technology use in high schools in England that had been selected as representing outstanding Information and Communications Technologies (ICT) innovation. The reanalysis focuses on intentionality and teleology, and attempts to combine an ecological perspective with a critical analysis of the intention–behavior correlations among participants, particularly teachers and head teachers. The concept of self-regulation is also considered as a determinant of behavior. The study reports a qualitative analysis of extensive interview data from four schools, and makes use of Underwood’s concept of ‘linkage e-maturity’. Traditional models of technology acceptance often assumed a steady trajectory of innovation, but such studies failed to explain uneven patterns of adoption. In this reanalysis, an emphasis on learning practices and e-maturity, interpreted within local and system-wide ecological contexts, better explained uneven adoption patterns.

Frequency data of the six STRs: (1) DYS19; (2) DYS389I; (3) DYS389II; (4) DYS390; (5) DYS391 and (6) DYS393, and the DYS287 polymorphism (YAP) were determined in a sample of 117 unrelated males from three eastern Spanish populations: 53 from Majorca, 40 from Minorca and 24 from Valencia.

A total of 157 unrelated individuals residing in Slovenia were typed for 49 of the autosomal single nucleotide polymorphisms (SNPs) in the SNP for ID 52plex with the SNaPshot ® assay. We obtained full SNP profiles in all but one individual and perfect concordance was obtained in duplicated analyses. Allele frequencies are presented for the 49 SNPs. No deviation from HWE was observed for any SNP. F IS and F ST were estimated. A principal coordinate analysis performed on six populations (Slovenian, Danish, Somali, Greenland, Turkish and Chinese) showed that the Slovenian population grouped with the Danish population. The mean power of discrimination for the Slovenian population was 1.1×10 −19 , and the mean exclusion probability for trios was 99.96%.

The C282Y mutation of the HFE gene has been reported to be present in most of the patients with hereditary haemochromatosis (HH) of Northern European ancestry. HH affects approximately 1/300 individuals, but it is not evenly distributed in the different European countries. In the present study, polymerase chain reaction (PCR) and restriction-enzyme digestion were used to analyse the frequency of the most important mutation in haemochromatosis (C282Y) in subjects from Majorca (Balearic Islands, Spain) and patients with haemochromatosis. The results were compared with other studies from Spain and Europe. A total of 420 Majorcan chromosomes were analysed and the C282Y mutation was observed at a frequency of 2.62%+/-0.8 (11 heterozygotes: eight men and three women). In the group of hereditary haemochromatosis probands, 13 out of 14 were homozygous for the C282Y mutation. In the distribution of the C282Y mutation, a north-west to south-east cline was detected, supporting the Celtic origin of this mutation.

The X-chromosome has valuable characteristics for population genetic studies. In order to investigate the genetics of the human Mediterranean populations further, we developed a 25 X-chromosome SNP-multiplex typing system. The system was based on PCR multiplex amplification and subsequent multiplex single base extension with the SNaPshot reaction, capillary electrophoresis and multicolor fluorescence detection. We investigated 11 Mediterranean populations with the 25 X-chromosome SNPs. A high overall homogeneity was found among the Mediterranean populations except for Moroccans, who differed genetically from the rest of the populations in the Mediterranean area. This result supports the hypothesis of a low incidence of the south–north genetic interchange at the western shores of the Mediterranean basin. A low genetic distance was found between populations in the Middle East and the western part of the Mediterranean area most likely reflecting the strong effect of the Neolithic wave. A certain level of background linkage disequilibrium among the 25 SNPs on the X-chromosome in Ibiza and Cosenza was observed, possibly as a consequence of their demographic history.

The data presented constitute the longest historical series of results obtained in Seville with a Hirst-type sampler, and are a further contribution to earlier aerobiological studies carried out in the city with a Cour trap. This work supplies an updated pollen calendar of the city, together with pollen counts and other aerobiological parameters for the 14 most important types in the 4-year period of sampling. These werePlatanus hispanica, Olea europaea, Quercus, Cupressaceae, Poaceae, Urticaceae, Moraceae, Chenopodiaceae/ Amaranthaceae,Plantago, Pinaceae,Rumex, Myrtaceae, Compositae, andCasuarina.

Forecasting harvests of olives destined for the production of olive oil can be based on counts of airborne olive pollen, and meteorological and agronomic observations. This study was carried out during six consecutive years (1990–1995) in the Campina Alta (an olive-producing region in the province of Cordoba, south-west Spain). Olive pollen totals are the annual sum of the concentrations recorded for the periods that the filters of a Cour trap were exposed. The meteorological data are the values of accumulated rainfall between 1 September and the following 15 April (a date prior to the beginning of olive flowering). The agronomic data are the forecast and actual productions for the province of Cordoba, supplied by the Board of Agriculture of the Andalusian government, and the actual production of the Campina Alta, supplied at the end of harvest by private olive-growing co-operatives. The data were combined, and four mathematical equations were obtained to forecast the crop 6 months in advance, with varying degrees of reliability. The reliability was very high for an appropriate agricultural area. The most accurate equation isY=−1.90×104+2.35X+53.94 (which forecasts the production of the Campina Alta), whereY is the olive production (MT),X the olive pollen count,Z the rainfall prior to flowering, anda, b andc are constants. The least accurate equation is that relating olive pollen concentrations with olive production in the province of Cordoba.

This work describes a predictive model for the harvest of olives destined for olive oil, using olive groves in the province of Seville (southern Spain). The study was carried out between 1987 and 1996, monitoring airborne olive pollen with a Cour trap, and using agronomic data (size of harvest expressed in kg/ha) and meteorological observations (rainfall before and after olive pollination, days of rainfall during harvesting, and maximum temperatures during pollination). The data were subjected to simple and multiple regression analysis. Eight equations were obtained, enabling the olive harvest to be forecast with a high degree of reliability: five equations for use at the beginning of July (the end of flowering, and six months before fruit picking), another two at the end of November (immediately before picking), and the remaining one at the end of January, once picking was over.

A Cour trap was used to sample the air of Seville of continuously from 1987 to 1996. The most important climatological feature recorded during that period was the drought that began in 1990 and which was at its most severe in the first half of 1995. The behaviour of a total of 20 pollen types was studied: those exceeding 0.01% of the total pollen collected during the ten‐year period. These were Quercus, Olea Cupressaceae, Platanus Myrtaceae, Pinaceae, Palmae, Moraceae, Fraxinus Ericaceae, Citrus, Pistacia, Acer, Casuarina Salicaceae, Ulmus, Alnus, Castanea Cistaceae, and Viburnum. The following aspects are described and analysed: the spectrum of tree and shrub types identified in the air, and their possible significance for allergies; the relationship between the woody vegetation of the region and the composition of the pollen spectrum in quantitative terms; and the possible effect of the drought on annual variations total pollen concentrations. A detailed study of olive pollen, aimed at finding applicati...

The peopling of Greenland has a complex history shaped by population migrations, isolation and genetic drift. The Greenlanders present a genetic heritage with components of European and Inuit groups; previous studies using uniparentally inherited markers in Greenlanders have reported evidence of a sex-biased, admixed genetic background. This work further explores the genetics of the Greenlanders by analysing autosomal and X-chromosomal data to obtain deeper insights into the factors that shaped the genetic diversity in Greenlanders. Fourteen Greenlandic subsamples from multiple geographical settlements were compared to assess the level of genetic substructure in the Greenlandic population. The results showed low levels of genetic diversity in all sets of the genetic markers studied, together with an increased number of X-chromosomal loci in linkage disequilibrium in relation to the Danish population. In the broader context of worldwide populations, Greenlanders are remarkably different from most populations, but they are genetically closer to some Inuit groups from Alaska. Admixture analyses identified an Inuit component in the Greenlandic population of approximately 80%. The sub-populations of Ammassalik and Nanortalik are the least diverse, presenting the lowest levels of European admixture. Isolation-by-distance analyses showed that only 16% of the genetic substructure of Greenlanders is most likely to be explained by geographic barriers. We suggest that genetic drift and a differentiated settlement history around the island explain most of the genetic substructure of the population in Greenland.

A total number of 149 individuals from Iran (Persians, Lurs and Kurds) were analyzed for 49 autosomal SNPs using PCR, SBE and capillary electrophoresis. No deviation from Hardy–Weinberg expectations was observed. One SNP pair (rs1015250–rs251934) showed significant linkage disequilibrium in Kurds. However, this was most likely due to chance. High intrapopulation variability and no significant population structure were observed among the three ethnic groups from Iran. Pairwise F ST values obtained from the mean numbers of pairwise differences between SNP profiles were calculated for Persians, Lurs, Kurds and eighteen other worldwide populations. For each of the three Iranian ethnic groups, the lowest F ST values calculated between an Iranian and non-Iranian populations were observed between Iranians and populations in Iraq and Turkey. The three Iranian ethnic groups grouped together with other West Asian populations in the MDS plot drawn from the F ST values. Statistical parameters of forensic interest calculated for the Iranian ethnic groups showed values of the same order of magnitudes as those obtained for Asians. The mean match probability calculated for the 49 SNPs ranged from 1.7x10 −18 for Kurds to 1.3x10 −19 for Persians. Despite the low level of genetic structure observed among Persians, Lurs and Kurds, a single autosomal SNP database should be used with care when extending its forensic application to other Iranian ethnic groups.

Forty-nine of the 52 autosomal single nucleotide polymorphisms (SNPs) in the SNP for ID 52plex were typed in 101 unrelated Iraqis living in Denmark. No significant deviation from HWE was found in all but one of the 49 SNP systems and no significant pairwise linkage disequilibrium was observed for any SNP pair. When 18 worldwide populations were compared (including populations in Iraq, Turkey, Israel, Pakistan, India, China, Taiwan, Japan, Siberia, Algeria, Somalia, Uganda, Mozambique, Angola, Nigeria, Denmark, Portugal, Spain), a significant global F ST value was obtained. All but six F ST values were statistically significant when pairwise comparisons were performed between the 18 populations. The Iraqi population did not show significant difference from the population in Turkey and it grouped together with other Middle-Eastern populations when a multidimensional scaling plot was drawn based on the pairwise F ST values. The combined mean match probability and the typical paternity index for trios were 8.3×10 −20 and 259,000, respectively, for the Iraqi population.

We describe a method for simultaneous amplification of 49 autosomal single nucleotide polymorphisms (SNPs) by multiplex PCR and detection of the SNP alleles by single base extension (SBE) and capillary electrophoresis. All the SNPs may be amplified from only 100 pg of genomic DNA and the length of the amplicons range from 65 to 115 bp. The high sensitivity and the short amplicon sizes make the assay very suitable for typing of degraded DNA samples, and the low mutation rate of SNPs makes the assay very useful for relationship testing. Combined, these advantages make the assay well suited for disaster victim identifications, where the DNA from the victims may be highly degraded and the victims are identified via investigation of their relatives. The assay was validated according to the ISO 17025 standard and used for routine case work in our laboratory.

SNPs are being increasingly used by forensic laboratories. Different platforms have been developed for SNP typing. We describe the GenPlex™ HID system protocol, a new SNP-typing platform developed by Applied Biosystems where 48 of the 52 SNPforID SNPs and amelogenin are included. The GenPlex™ HID system protocol has been successfully tested by a number of forensic laboratories using both ordinary and forensic samples.

We describe a method for simultaneous amplification of 49 autosomal single nucleotide polymorphisms (SNPs) by multiplex PCR and detection of the SNP alleles by single base extension (SBE) and capillary electrophoresis. All the SNPs may be amplified from only 100 pg of genomic DNA and the length of the amplicons range from 65 to 115 bp. The high sensitivity and the short amplicon sizes make the assay very suitable for typing of degraded DNA samples, and the low mutation rate of SNPs makes the assay very useful for relationship testing. Combined, these advantages make the assay well suited for disaster victim identifications, where the DNA from the victims may be highly degraded and the victims are identified via investigation of their relatives. The assay was validated according to the ISO 17025 standard and used for routine case work in our laboratory.

SNPs are being increasingly used by forensic laboratories. Different platforms have been developed for SNP typing. We describe the GenPlex™ HID system protocol, a new SNP-typing platform developed by Applied Biosystems where 48 of the 52 SNPforID SNPs and amelogenin are included. The GenPlex™ HID system protocol has been successfully tested by a number of forensic laboratories using both ordinary and forensic samples.

In this study, we tested the first commercial kit with insertion/deletion (indel) polymorphisms, the Mentype ® DIPplex PCR Amplification Kit (DIPplex kit). A total of 30 biallelic autosomal indels and Amelogenin were amplified with the DIPplex kit. All loci were amplified in one PCR multiplex and all amplicon lengths were shorter than 160bp. Full indel profiles were generated from as little as 100pg of DNA. A total of 117 individuals from Danish paternity cases were successfully typed. No deviation from Hardy–Weinberg equilibrium was observed for any of the indels. The combined mean match probability was 3.3×10 −13 , the mean paternity exclusion probability was 99.7% and the typical paternity indices for trios and duos were 2350 and 165, respectively. Furthermore, we typed five highly degraded DNA samples with the DIPplex kit, the AmpF l STR ® SGM Plus kit and the AmpF l STR ® SEfiler Plus kit. Full indel profiles were obtained with the DIPplex kit, whereas only partial profiles were obtained with the STR kits. In general, the DIPplex kit performed well and it would be a valuable assay for forensic genetic testing, especially in crime cases with partially degraded DNA or low amounts of template DNA. However, some difficulties with pull-ups were observed at DNA concentrations of 1000pg. Rearrangement of the allele windows by changing the lengths of some of the PCR primers would greatly improve the assay, and more robustness towards higher amounts of DNA would allow the use of the DIPplex kit without prior quantification of the samples.

X-chromosome markers have become a useful set of markers of choice when certain complex kinship cases need to be unravelled. The Argus X-12 kit allows the co-amplification in a single PCR reaction of 12 X-chromosome short tandem repeats located in four linkage groups. A number of 507 unrelated individuals from Greenland, Denmark and Somalia together with two generation families were typed using the Argus X-12 kit. Silent alleles for the DXS10148 and DXS10146 systems were observed in males, mostly from Somalia. High levels of intrapopulation variability and therefore high forensic parameter values were calculated for the three studied populations. The population in Greenland showed a significantly lower intrapopulation variability and a high genetic differentiation compared with 13 other populations. Significant levels of linkage disequilibrium were observed between markers belonging to the same linkage group, mainly in the populations in Greenland and Somalia. Family studies allowed the calculation of mutation and recombination frequencies. A higher male versus female mutation rate was obtained, with an average value of 3.3 × 10(-3). Recombination fraction calculations performed on two generation families showed, as previously described, a not complete independence between X-chromosome linkage groups 3 and 4.

Studies of human genetic variation predominantly use short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) but Insertion deletion polymorphisms (Indels) are being increasingly explored. They combine desirable characteristics of other genetic markers, especially the possibility of being analysed using short amplicon strategies, which increases the ease of analysis, contributing to justify their interest in population and forensic genetics. After the advent of autosomal and uniparental genomes (mtDNA and Y chromosome), these fields of research are also focusing on the X chromosome, given its special transmission pattern. The X chromosome markers brought new insights into the history of modern human populations and also proved useful in forensic kinship investigations, namely in deficient relationship cases and in cases where autosomes are uninformative. This work describes an X-Indel multiplex system amplifying 32 biallelic markers in one single PCR. The multiplex includes X-Indels shown to be polymorphic in the major human population groups and follows a short amplicon strategy. The set was applied in the genetic characterization of sub-Saharan African, European and East Asian population samples and revealed high forensic efficiency, as measured by the accumulated power of discrimination (0.9999990 was the lowest value in males and 0.999999999998 was the highest in females) and mean exclusion chance varied between 0.998 and 0.9996 in duos and between 0.99997 and 0.999998 in trios. Finally, a segregation analysis was performed using trio constellations of father-mother-daughters in order to address the transmission pattern and assess mutation rates of this type of markers.

The importance of X-chromosome markers in individual identifications, population genetics, forensics and kinship testing is getting wide recognition. In this work, we studied the distributions of 25 X-chromosome single nucleotide polymorphisms (X-SNPs) in population samples from Northern, Central and Southern Portugal ( n = 305). The data were also compared with previous data from the Mediterranean area confirming a general genetic homogeneity among populations in the region. The X-SNP distribution in the three Portuguese regional samples did not show any significant substructure and the X-SNP distributions did not differ significantly from those of the majority of Mediterranean populations.

The analysis of X-chromosome markers can be valuable in particular situations, for example, deficiency kinship cases, where the putative father cannot be typed. X-chromosome short-tandem repeats (X-STRs) are widely used in forensic genetics, while the use of X-chromosome single-nucleotide polymorphisms (X-SNPs) is still limited.The forensic usefulness of a set of 25 SNPs located across the X-chromosome was analyzed in 13 populations. The applicability of the 25 X-SNPs in kinship testing was illustrated in two immigration cases where the conclusions based on the analysis of 15 autosomal STRs were ambiguous and, in one of the cases, misleading. The samples in the two cases were also typed for eight X-STRs, 52 autosomal SNPs, and seven autosomal variable number of tandem repeats.The combined power of discrimination of the 25 X-chromosome markers varied from one in 1.7×10(6) males to one in 7.8×10(9) females and the combined mean chance of exclusion varied between 99.78% in duos to 99.998% in trios. In the two immigration cases, the use of X-linked markers increased the number of genetic inconsistencies and the cases could be solved. The usefulness of X-chromosome markers was particularly illustrative in Case 1, where the typing of 25 X-SNPs would have been sufficient to exclude paternity.The high level of polymorphism, low degree of linkage disequilibrium, and very low probability of mutation of the 25 X-SNPs makes this set of markers suitable as a supplementary set of markers in relationship testing.