Forensic Science International: Genetics RSS feed: Current Issue. Forensic Science International: Genetics is specifically devoted to Forensic Genetics. This branch of Forensic Science can be defined as the application of genetics to human and non-human material (in the sense of a science with the purpose of studying inherited characteristics for the analysis of inter- and intra-specific variations in populations) for the resolution of legal conflicts. The scope of the journal includes: Forensic applications of human polymorphism. Testing of paternity and other family relationships, immigration cases, typing of biological stains and tissues from criminal casework, identification of human remains by DNA testing methodologies. Description of human polymorphisms of forensic interest, with special interest in DNA polymorphisms. Autosomal DNA polymorphisms, mini- and microsatellites (or short tandem repeats, STRs), single nucleotide polymorphisms (SNPs), X and Y chromosome polymorphisms, mtDNA polymorphisms, and any other type of DNA variation with potential forensic applications. Non-human DNA polymorphisms. For crime scene investigation, illegal trade in endangered species evidences, and bioterrorism Population genetics of human polymorphisms of forensic interest. Population data, especially from DNA polymorphisms of interest for the solution of forensic problems. DNA typing methodologies and strategies. Biostatistical methods in forensic genetics. Evaluation of DNA evidence in forensic problems (such as paternity or immigration cases, criminal casework, identification), classical and new statistical approaches. Standards in forensic genetics. Recommendations of regulatory bodies concerning methods, markers, interpretation or strategies or proposals for procedural or technical standards. Quality control. Quality control and quality assurance strategies, proficiency testing for DNA typing methodologies. Criminal DNA databases. Technical, legal and statistical issues. General ethical and legal issues related to forensic genetics http://www.fsigenetics.com/?rss=yesElsevier Inc.en © 2010 Published by Elsevier Inc. All rights reserved. Forensic Science International: Genetics1872-497343April 2010 © 2010 Published by Elsevier Inc. All rights reserved. healthpermissions@elsevier.comhttp://www.fsigenetics.com/article/PIIS1872497310000384/abstract?rss=yesEditorial Board10.1016/S1872-4973(10)00038-4Forensic Science International: Genetics 4, 3 (2010)2010-04-01Forensic Science International: Genetics2010-04-0143S1872-4973(10)X0002-3CO2CO2http://www.fsigenetics.com/article/PIIS1872497310000189/abstract?rss=yesAt the general assembly of the 23rd International Congress of the International Society for Forensic Genetics held in Buenos Aires, Argentina on 18 September 2009, a status update on Forensic Science International: Genetics was presented by John Butler on behalf of the journal editors. In the first three volumes – spanning the time period of March 2007 to September 2009 – there have been 11 published issues of Forensic Science International: Genetics. contains a brief review of the contents for the 213 articles published (152 in print and 61 online only) in these 11 issues. summarizes the number of articles submitted and accepted during this same time period.Journal updateJohn M. Butler, Peter M. Schneider, Angel Carracedo10.1016/j.fsigen.2010.01.010Forensic Science International: Genetics 4, 3 (2010)2010-02-19Forensic Science International: Genetics2010-02-1943S1872-4973(10)X0002-3Editorials143144http://www.fsigenetics.com/article/PIIS1872497310000293/abstract?rss=yesIn 2000 a new policy concerning the publication of population genetic data was set up in Forensic Science International with the introduction of a new section entitled “Announcement of population data”. The idea was to facilitate the publication of this type of data since the use of reliable allele or haplotype frequency estimates of the polymorphisms is a requirement in most countries, both in forensic and in paternity cases.Publication of population data for forensic purposesÁngel Carracedo, John M. Butler, Leonor Gusmão, Walther Parson, Lutz Roewer, Peter M. Schneider10.1016/j.fsigen.2010.02.001Forensic Science International: Genetics 4, 3 (2010)2010-02-22Forensic Science International: Genetics2010-02-2243S1872-4973(10)X0002-3Editorials145147http://www.fsigenetics.com/article/PIIS1872497309001483/abstract?rss=yesAbstract: Forensic DNA identification techniques are principally based on determination of the size or sequence of desired PCR products. The fragmentation of DNA templates or the structural modifications that can occur during the decomposition process can impact the outcomes of the analytical procedures. This study reviews the pathways involved in cell death and DNA decomposition and the subsequent difficulties these present in DNA analysis of degraded samples.Forensic implications of genetic analyses from degraded DNA—A reviewReza Alaeddini, Simon J. Walsh, Ali Abbas10.1016/j.fsigen.2009.09.007Forensic Science International: Genetics 4, 3 (2010)2009-10-05Forensic Science International: Genetics2009-10-0543S1872-4973(10)X0002-3Review Article148157http://www.fsigenetics.com/article/PIIS1872497309001306/abstract?rss=yesAbstract: Proper identification of racehorses competing in an official race and maintenance of defensible chain of custody are important in doping control regulations. The purpose of this study was to develop a reliable multiplex PCR method for providing genetic evidence for matching donors to test samples by using short tandem repeat (STR) loci. Amplification of 21 STR loci from blood, urine or hair root was achieved in a single tube and STR length polymorphism was analyzed using fluorescent labeled capillary electrophoresis. This novel approach showed an allele confidence interval of 0.19–0.43bp and size estimation error of 0–0.48bp. In 90 thoroughbred (TB) and 171 standardbred (STB) horses, the method was highly discriminating and reproducible with probability of false identification of 1 in 1011 (TB) and 1 in 1013 (STB). All loci were highly polymorphic with an average probability of identity of 0.18 (TB) and 0.13 (STB), heterozygosity of 0.65 (TB) and 0.68 (STB), and polymorphism information content (PIC) of 0.62 (TB) and 0.69 (STB). The highest allele frequency also reflected the degree of polymorphism due to high correlation with PIC. To obtain evidence of sample tampering with human material, three human specific STR markers were included in the panel. This method is the first in the horseracing industry, specifically designed for racehorse identification and detection of equine sample contamination by human DNA.Identification of racehorse and sample contamination by novel 24-plex STR systemJin-Wen Chen, Cornelius E. Uboh, Lawrence R. Soma, Xiaoqing Li, Fuyu Guan, Youwen You, Ying Liu10.1016/j.fsigen.2009.08.001Forensic Science International: Genetics 4, 3 (2010)2009-09-03Forensic Science International: Genetics2009-09-0343S1872-4973(10)X0002-3Research Articles158167http://www.fsigenetics.com/article/PIIS1872497309001367/abstract?rss=yesAbstract: The biochemistry of dry state DNA is of interest to the field of forensic biology. The precise chemical nature of the hydrolytic degradation products of the DNA molecule in the dry state has not been previously investigated in detail. In this study we found that the mechanistic chemistry of DNA hydrolysis appears to be the same for the hydrated and dry states. The thermodynamic parameters are also similar in both states and the activation energies for base hydrolysis are indistinguishable. The principal difference between the two states is the rate at which hydrolytic degradation occurs. The duplex configuration of dry state DNA offers much more protection for the molecule than is offered in single strand and nucleotide species. Single strand breaks of dry state duplex DNA occur with a half life of 24±2 days at 65°C and appear to occur in a mechanistic manner.Hydrolysis of DNA and its molecular components in the dry stateApril Marrone, Jack Ballantyne10.1016/j.fsigen.2009.08.007Forensic Science International: Genetics 4, 3 (2010)2009-09-11Forensic Science International: Genetics2009-09-1143S1872-4973(10)X0002-3Research Articles168177http://www.fsigenetics.com/article/PIIS1872497309001379/abstract?rss=yesAbstract: This work presents the integration of DNA extraction from complex samples and PCR amplification of STR fragments in a valveless, glass microdevice, using commercially available kits and instrumentation. DNA extraction was performed using a microchannel packed with a silica solid phase and a standard syringe pump as a single pressure source driving the extraction process, followed by integrated, online microchip amplification of STR fragments in a total volume of 1.2μL. Reported characteristics important to this work include the capacity of the device for purification of DNA from a complex biological sample (whole blood) and the timing of DNA elution from the silica solid phase for successful downstream PCR amplification by placement the microdevice into a conventional thermocycler. Potential application of this microdevice to forensic genetic analysis was demonstrated through the preliminary extraction of DNA from semen, followed by an integrated, multiplexed, on-chip amplification that yielded detectable STR amplicons. By utilizing conventional laboratory equipment, the device presented exploits the benefits of microfluidic systems without complex control systems.An integrated microfluidic device for DNA purification and PCR amplification of STR fragmentsJoan M. Bienvenue, Lindsay A. Legendre, Jerome P. Ferrance, James P. Landers10.1016/j.fsigen.2009.02.010Forensic Science International: Genetics 4, 3 (2010)2009-10-08Forensic Science International: Genetics2009-10-0843S1872-4973(10)X0002-3Research Articles178186http://www.fsigenetics.com/article/PIIS1872497309001380/abstract?rss=yesAbstract: The present work tries to investigate the population structure and variation of the Amerindian indigenous populations living in Argentina. A total of 134 individuals from three ethnic groups (Kolla, Mapuche and Diaguitas) living in four different regions were collected and analysed for 26 Y-SNPs and 11 Y-STRs.Intra-population variability was analysed, looking for population substructure and neighbour populations were considered for genetic comparative analysis, in order to estimate the contribution of the Amerindian and the European pool, to the current population.We observe a high frequency of R1b1 and Q1a3a* Y-chromosome haplogroups, in the ethnic groups Mapuche, Diaguita and Kolla, characteristic of European and Native American populations, respectively. When we compare our native Argentinean population with other from the South America we also observe that frequency values for Amerindian lineages are relatively lower in our population.These results show a clear Amerindian genetic component but we observe a predominant European influence too, suggesting that typically European male lineages have given rise to the displacement of genuinely Amerindian male lineages in our South American population.Y-chromosome lineages in native South American populationA. Blanco-Verea, J.C. Jaime, M. Brión, A. Carracedo10.1016/j.fsigen.2009.08.008Forensic Science International: Genetics 4, 3 (2010)2009-09-22Forensic Science International: Genetics2009-09-2243S1872-4973(10)X0002-3Research Articles187193http://www.fsigenetics.com/article/PIIS1872497309001409/abstract?rss=yesAbstract: In this study a set of 29 X-chromosomal short tandem repeats (STRs) located within the Xq26 region was evaluated. These STRs were found within the 133.14–133.45Mb region around the HPRTB locus. Evaluation of the microsatellites was performed with regard to polymorphism, reliable amplification, and low stutter artefacts. DXS10101, DXS10102, and DXS10103 were identified as those X-STRs with highest diversity; i.e. PIC values of 0.7174–0.8933. The locus DXS10101 was the optimal candidate for the integration in the commercial available test system Mentype Argus X-8 PCR amplification kit.Evaluation of seven X-chromosomal short tandem repeat loci located within the Xq26 regionHeike Rodig, Frank Kloep, Lydia Weißbach, Christa Augustin, Jeannett Edelmann, Sandra Hering, Reinhard Szibor, Frank Götz, Werner Brabetz10.1016/j.fsigen.2009.08.010Forensic Science International: Genetics 4, 3 (2010)2009-09-22Forensic Science International: Genetics2009-09-2243S1872-4973(10)X0002-3Research Articles194199http://www.fsigenetics.com/article/PIIS1872497309001458/abstract?rss=yesAbstract: The short tandem repeat (STR) kits SEfiler Plus™ (D3S1358, FGA, D8S1179, D18S51, D21S11, TH01, VWA, SE33, D2S1338, D16S539, D19S433 and Amelogenin), PowerPlex® S5 System (D18S51, D8S1179, TH01, FGA and Amelogenin) and MiniFiler™ (D13S317, D7S820, Amelogenin, D2S1338, D21S11, D16S539, D18S51, CSF1PO and FGA) were comparatively tested for their robustness and sensitivity. About 50 stains with highly degraded DNA and little DNA quantity served as examination material (e.g., hair with a telogen root, bones, degraded saliva stains on drinking vessels and skin cell mixtures).The PowerPlex® S5 with five German DNA database (DAD) systems and the MiniFiler kit with four topical DAD systems and further STR markers show reduced amplicon lengths. The SEfiler Plus™ kit represents no MiniSTR multiplex, but contains the nine current DAD systems and further three systems D2S1338, D16S539 and D19S433, which are the potential expansion markers for the German DNA database.We have found on the basis of our comparative stain investigations, that the SEfiler Plus kit was less sensitive than the PowerPlex® S5 and the MiniFiler kits. The MiniFiler™ and the PowerPlex® S5 kit showed comparatively high sensitivity.Especially in analysing skin cell mixtures, the MiniFiler kit showed larger differences with regard to the performance of the fluorescent dyes/primer concentration co-ordination than the PowerPlex® S5. The SEfiler Plus kit generated – just as both MiniSTR kits – relative robust typing results, but there appeared an increased sensitivity for ‘allelic drop-outs’ and ‘imbalances’. Since the SEfiler Plus kit was not planned as MiniSTR concept, ‘allelic drop-outs’ were observed, as expected, more frequent in typing stains with degraded DNA and little DNA quantity, especially in the long polymerase chain reaction (PCR) products (e.g., D18S51).Casework testing of the multiplex kits AmpFℓSTR® SEfiler Plus™ PCR amplification kit (AB), PowerPlex® S5 System (Promega) and AmpFℓSTR® MiniFiler™ PCR amplification kit (AB)Kathrin Müller, Thomas Sommerer, Erich Miltner, Harald Schneider, Peter Wiegand10.1016/j.fsigen.2009.09.004Forensic Science International: Genetics 4, 3 (2010)2009-10-23Forensic Science International: Genetics2009-10-2343S1872-4973(10)X0002-3Research Articles200205http://www.fsigenetics.com/article/PIIS187249730900146X/abstract?rss=yesAbstract: Microdevices are often designed to process sample volumes on the order of tens of microliters and cannot typically accommodate larger volume samples without adversely affecting efficiency and greatly increasing analysis time. However, dilute, large-volume biological samples are frequently encountered, especially in forensic or clinical laboratories. A microdevice, capable of efficiently processing 0.5–1mL samples has been developed for solid phase extraction (SPE) of DNA. SPE was carried out on a microdevice utilizing magnetic silica particles and an optimized volumetric flow rate and elution buffer, resulting in a 50-fold decrease in volume and a 15-fold increase in DNA concentration. Device characterization studies showed DNA extraction efficiencies comparable with previously reported silica-based purification methods, with robust performance demonstrated by the successful amplification of a fragment from the gelsolin gene extracted from dilute whole blood. In addition, the microchip-based method for SPE of large volume, dilute samples was also used to demonstrate the first successful on-chip purification of mitochondrial DNA (mtDNA) from both dilute whole blood and a degraded blood stain.Volume reduction solid phase extraction of DNA from dilute, large-volume biological samplesCarmen R. Reedy, Joan M. Bienvenue, Lisa Coletta, Briony C. Strachan, Naila Bhatri, Susan Greenspoon, James P. Landers10.1016/j.fsigen.2009.09.005Forensic Science International: Genetics 4, 3 (2010)2009-10-12Forensic Science International: Genetics2009-10-1243S1872-4973(10)X0002-3Research Articles206212http://www.fsigenetics.com/article/PIIS1872497309000945/abstract?rss=yesAbstract: 12 Y-STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385a/b, DYS438, DYS439 and DYS437) were typed with PowerPlex® Y System (Promega, USA) in a total sample of 501 unrelated males from the central part of Thailand. Allele frequencies and gene diversity for each Y-STR locus were determined. Haplotype diversity from the combined 12 Y-STR loci was 0.9996. The present results can be used as Thai ethnic genetic information resources in routine forensic analysis.Y-chromosomal STR haplotypes in Central Thai populationT. Siriboonpiputtana, U. Jomsawat, T. Rinthachai, J. Thanakitgosate, J. Shotivaranon, N. Limsuwanachot, P. Polyorat, B. Rerkamnuaychoke10.1016/j.fsigen.2009.06.007Forensic Science International: Genetics 4, 3 (2010)2009-07-21Forensic Science International: Genetics2009-07-2143S1872-4973(10)X0002-3Announcement of Population Datae71e72http://www.fsigenetics.com/article/PIIS1872497309000957/abstract?rss=yesAbstract: A sample of 267 unrelated Moroccan males from different ethnic groups (Arabs, Berbers and Sahrawi), was typed for 17 Y-STR loci (DYS19, DYS385, DYS389 I, DYS389 II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, Y GATA H4). Discrimination capacity (96.3%) and haplotype diversity (99.91%) were calculated. A total of 257 haplotypes were identified, of which 237 were unique and 10 were found in two individuals each. DYS385 showed the highest diversity (0.887) followed by DYS458 (0.820) as a single locus marker.Haplotype frequencies for 17 Y-STR loci (AmpFlSTR®Y-filer™) in a Moroccan population sampleRachid Aboukhalid, Mehdi Bouabdellah, Meriame Abbassi, Kaoutar Bentayebi, Mohammed Elmzibri, Driss Squalli, Saaïd Amzazi10.1016/j.fsigen.2009.06.004Forensic Science International: Genetics 4, 3 (2010)2009-07-15Forensic Science International: Genetics2009-07-1543S1872-4973(10)X0002-3Announcement of Population Datae73e74http://www.fsigenetics.com/article/PIIS1872497309000969/abstract?rss=yesAbstract: Twelve Y-chromosomal short tandem repeats (Y-STR) (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385a, DYS385b, DYS437, DYS438, and DYS439) included in the PowerPlex Y™ Kit (Promega Corporation, Madison, USA) were studied for 1750 unrelated males living in 14 regions of the Czech Republic. A total of 1148 different haplotypes were found. The overall haplotype diversity (HD) was determined as 0.998. Analysis of Molecular Variance (AMOVA) reveals non-significant distances between regions concerning their haplotype distribution, thus allowing to use the whole sample as a representative reference database of the Czech Republic. Median network analysis shows a remarkable bipartite composition of the Czech haplotypes, falling in distinct clusters with Eastern and Western European roots.Assembly of a large Y-STR haplotype database for the Czech population and investigation of its substructureJan Zastera, Lutz Roewer, Sascha Willuweit, Patrik Sekerka, Lucie Benesova, Marek Minarik10.1016/j.fsigen.2009.06.005Forensic Science International: Genetics 4, 3 (2010)2009-07-13Forensic Science International: Genetics2009-07-1343S1872-4973(10)X0002-3Announcement of Population Datae75e78http://www.fsigenetics.com/article/PIIS1872497309000970/abstract?rss=yesAbstract: Allele frequencies and forensic parameters for twelve miniSTR autosomal loci (D10S1248, D14S1434, D22S1045, D4S2364, D2S441, D1S1677, D20S480, D6S2439, D6S1056, D9S1118, D4S2639 and D17S1290) were calculated from a sample of 506 unrelated individuals from the Central-East Region of Argentina. No significant deviations from Hardy–Weinberg expectations were found. Furthermore, comparisons with other previously studied populations were made. These twelve miniSTR markers may help forensic laboratories in solving parentage testing as well as in typing degraded DNA samples.Frequency data for 12 mini STR loci in ArgentinaCarlos Vullo, Alicia Borosky, Carola Romanini, Laura Catelli, Toshimichi Yamamoto10.1016/j.fsigen.2009.06.006Forensic Science International: Genetics 4, 3 (2010)2009-07-09Forensic Science International: Genetics2009-07-0943S1872-4973(10)X0002-3Announcement of Population Datae79e81http://www.fsigenetics.com/article/PIIS1872497309000891/abstract?rss=yesJames Curran et al. presented in Appendix A of a series of formulae for calculating the expected probability for sharing 0, 1, or 2 alleles at a STR locus between two siblings, a parent and a child, and two first cousins. These formulae are useful in calculating the probabilities using various population allele frequencies. Unfortunately, two of the formulae contain a sign error. The sign in the first curly bracket of the formula for P0 for both siblings and cousins should be a minus sign instead of a plus sign. The original and the corrected formulae, containing the appropriate signs, are stated below for the sibling and cousin case. In addition, for the sake of completeness, we also include the formulae, derived by us, for sharing 0, 1, or 2 alleles for the half-sibling case, with θ equal to 0.Sign mistake in allele sharing probability formulae of Curran et al.Kyle L. Gilliam, Tse-Wei Wang10.1016/j.fsigen.2009.05.009Forensic Science International: Genetics 4, 3 (2010)2009-07-13Forensic Science International: Genetics2009-07-1343S1872-4973(10)X0002-3Letters to the Editor213214http://www.fsigenetics.com/article/PIIS1872497309000908/abstract?rss=yesWe would like to thank the authors for taking the time to check our work. The expressions require significant algebraic manipulation and time to simplify. It appears that in the final simplification of the formulae for publication we inadvertently changed a sign in the factorized expressions. We would like to note, however, that these simplified formulae were not used in our simulation work and therefore the results are still valid for our publications which depend on them. It should also be noted that whilst we agree with the authors’ correction to the formula for brothers, we believe that the formula for cousins is still incorrect.Re: Sign mistake in allele sharing probability formulae of Curran, et al.James M. Curran, John S. Buckleton10.1016/j.fsigen.2009.05.010Forensic Science International: Genetics 4, 3 (2010)2009-07-03Forensic Science International: Genetics2009-07-0343S1872-4973(10)X0002-3Letters to the Editor215217http://www.fsigenetics.com/article/PIIS1872497309001008/abstract?rss=yesThe standard universally accepted framework for evaluating the probability of a disputed kinship is the likelihood ratio formalism: the probability of the genetic observations assuming the kinship is contrasted with the probability of the same observations under the alternative hypothesis of a different degree of relationship (usually its absence) . The common forensic genetics practice assumes that distinguishing between relationships is, given enough genetic information, always feasible in the double meaning that (a) convincing figures are reachable and (b) two alternative relationships correspond to different likelihood values. The first question is of great importance but depends upon technical and material issues that are outside the scope of this note (for a discussion on this topic see ); on the second we fear that some misunderstandings may occur among practitioners.Likelihood ratios in kinship analysis: Contrasting kinship classes, not genealogiesNádia Pinto, Leonor Gusmão, António Amorim10.1016/j.fsigen.2009.06.010Forensic Science International: Genetics 4, 3 (2010)2009-07-31Forensic Science International: Genetics2009-07-3143S1872-4973(10)X0002-3Letters to the Editor218219http://www.fsigenetics.com/article/PIIS1872497310000530/abstract?rss=yesISFG Announcement10.1016/S1872-4973(10)00053-0Forensic Science International: Genetics 4, 3 (2010)2010-04-01Forensic Science International: Genetics2010-04-0143S1872-4973(10)X0002-3220220