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1.
DNA commission of the International Society of Forensic Genetics: Recommendations on the interpretation of mixtures 总被引:4,自引:0,他引:4
Gill P Brenner CH Buckleton JS Carracedo A Krawczak M Mayr WR Morling N Prinz M Schneider PM Weir BS;DNA commission of the International Society of Forensic Genetics 《Forensic science international》2006,160(2-3):90-101
The DNA commission of the International Society of Forensic Genetics (ISFG) was convened at the 21st congress of the International Society for Forensic Genetics held between 13 and 17 September in the Azores, Portugal. The purpose of the group was to agree on guidelines to encourage best practice that can be universally applied to assist with mixture interpretation. In addition the commission was tasked to provide guidance on low copy number (LCN) reporting. Our discussions have highlighted a significant need for continuing education and research into this area. We have attempted to present a consensus from experts but to be practical we do not claim to have conveyed a clear vision in every respect in this difficult subject. For this reason, we propose to allow a period of time for feedback and reflection by the scientific community. Then the DNA commission will meet again to consider further recommendations. 相似文献
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Gusmão L Butler JM Carracedo A Gill P Kayser M Mayr WR Morling N Prinz M Roewer L Tyler-Smith C Schneider PM;DNA Commission of the International Society of Forensic Genetics 《Forensic science international》2006,157(2-3):187-197
The DNA Commission of the International Society of Forensic Genetics (ISFG) regularly publishes guidelines and recommendations concerning the application of DNA polymorphisms to the problems of human identification. A previous recommendation published in 2001 has already addressed Y-chromosome polymorphisms, with particular emphasis on short tandem repeats (STRs). Since then, the use of Y-STRs has become very popular, and a numerous new loci have been introduced. The current recommendations address important aspects to clarify problems regarding the nomenclature, the definition of loci and alleles, population genetics and reporting methods. 相似文献
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《Forensic science international》2001,124(1):5-10
During the past few years, the DNA Commission of the International Society of Forensic Genetics has published a series of documents providing guidelines and recommendations concerning the application of DNA polymorphisms to the problems of human identification. This latest report addresses a relatively new area — namely, Y-chromosome polymorphisms, with particular emphasis on short tandem repeats (STRs). This report addresses nomenclature, use of allelic ladders, population genetics and reporting methods. 相似文献
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《Forensic Science International: Genetics Supplement Series》2013,4(1):e89-e90
Forensic Science International: Genetics, which is the official journal of the International Society for Forensic Genetics, has grown in readership and impact factor since its introduction in 2007. This article reviews some metrics of the 32 issues available as of September 2013. 相似文献
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Sequence variation and allele nomenclature for the X-linked STRs DXS9895, DXS8378, DXS7132, DXS6800, DXS7133, GATA172D05, DXS7423 and DXS8377 总被引:14,自引:0,他引:14
X-linked DNA markers are increasingly used in forensic kinship testing. This paper presents sequencing data of the short tandem repeats (STRs) DXS9895, DXS8378, DXS7132, DXS6800, DXS7133, GATA172D05, DXS7423, DXS8377 and proposes an allele nomenclature. Alleles were assigned according to the recommendations of the International Society of Forensic Genetics (ISFG) Commission. 相似文献
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Morling N Allen RW Carracedo A Geada H Guidet F Hallenberg C Martin W Mayr WR Olaisen B Pascali VL Schneider PM;Paternity Testing Commission of the International Society of Forensic Genetics 《Forensic science international》2002,129(3):148-157
The International Society for Forensic Genetics (ISFG) has established a Paternity Testing Commission (PTC) with the purpose of formulating international recommendations concerning genetic investigations in paternity testing. The PTC recommends that paternity testing be performed in accordance with the ISO 17025 standards. The ISO 17025 standards are general standards for testing laboratories and the PTC offers explanations and recommendations concerning selected areas of special importance to paternity testing. 相似文献
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Susanne Lunøe Friis Charlotte Hallenberg Bo Thisted Simonsen Niels Morling 《Forensic Science International: Genetics Supplement Series》2009,2(1):91-92
Here we present the results of the 2009 Paternity Testing Workshop of the English Speaking Working Group of the International Society for Forensic Genetics. The exercise included paternity testing of blood samples from a mother, a child and two alleged fathers. The laboratories were encouraged to answer questions concerning their laboratory routines and a paper challenge was distributed in order to compare statistical calculations. A total of 62 laboratories participated. The laboratories used a total of 49 autosomal STRs and PCR-investigated VNTRs, 19 Y-chromosomal STRs, 8 X-chromosomal STRs, 7 VNTR systems investigated with RFLP, 49 autosomal SNPs and 11 mtDNA SNPs. The rate of typing and reporting errors was 0.1%. 相似文献
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Anni Rnfeldt Thomsen Charlotte Hallenberg Bo Thisted Simonsen Rikke Breinhold Langkjr Niels Morling 《Forensic Science International: Genetics Supplement Series》2009,3(4):214-221
The English Speaking Working Group (ESWG) of the International Society for Forensic Genetics (ISFG) offers an annual Paternity Testing Workshop open to all members of the group. Blood samples, a questionnaire and a paper challenge are sent to the participants. Here, we present the results of the 2002–2008 Paternity Testing Workshops with the objective to evaluate the uniformity of DNA-profiling and conclusions of the participating laboratories as well as to clarify tendencies in typing strategies and biostatistical evaluations of the laboratories. The numbers of participating laboratories increased from 46 in 2002 to 68 in 2008. The results showed an increasing degree of concordance concerning methods and DNA systems used and a high degree of uniformity in typing results with discrepancies in 0.1 and 0.3 % of all submitted PCR-based results. The paper challenges showed uniformity in the calculation of the weight of evidence for simple cases with straight-forward genetic constellations. However, a high degree of variation existed in complex scenarios with rare genetic constellations such as genetic inconsistencies/possible silent alleles, rare alleles and haplotypes. 相似文献
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Former studies [Nature (1997) 387, Electrophoresis 20 (1999) 2870, P. Van Renterghem, D. Leonard, C. De Greef, Progress in Forensic Genetics, Vol. 8, 2000, p. 501, J. Forensic Sci. 45 (3) (2000) 687] have shown that even a single skin contact, documented by a latent fingerprint, can transfer enough DNA for a genetic analysis. It was proven in these studies that it is possible to swab fingerprints from surfaces [Nature (1997) 387, Electrophoresis 20 (1999) 2870, P. Van Renterghem, D. Leonard, C. De Greef, Progress in Forensic Genetics, Vol. 8, 2000, p. 501] and use them as a DNA source. Usually, however, discovered fingerprints are removed with scotch tape and placed on evidence cards for further investigation.In this study, we tried to assess the potential use of latent fingerprints as a DNA source for STR typing. The materials (magnetic powder, soot powder and scotch tape) used for visualization and archiving fingerprints in Germany were tested for their PCR inhibitory characteristics. Then, fingerprints were placed on clean glass surfaces, visualized and tested for their usefulness as a DNA source.Obtained DNA was quantified and tested in an STR system. Partly it proved possible to type fingerprints taken directly from the surface as well as fingerprints removed from the surface with scotch tape. 相似文献
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A proposal for standardization in forensic canine DNA typing: allele nomenclature of six canine-specific STR loci 总被引:4,自引:0,他引:4
Hellmann AP Rohleder U Eichmann C Pfeiffer I Parson W Schleenbecker U 《Journal of forensic sciences》2006,51(2):274-281
In this study a proposal for the allele nomenclature of six polymorphic short tandem repeat (STR) loci (PEZ3, PEZ6, PEZ8, PEZ10, FHC2161, and FHC2328) for canine genotyping (Canis lupus familiaris) is presented. The nomenclature is based on the sequence data of the polymorphic region of the microsatellite markers as recommended by the DNA commission of the International Society of Forensic Haemogenetics (ISFH) in 1994 for human DNA typing. To cover commonly and rarely occurring alleles, a selection of homozygous and heterozygous animals were analyzed and subjected to sequence studies. The alleles consisted of simple tri- and tetra-nucleotide repeat patterns as well as compound and highly complex repeat patterns. Several alleles revealing the same fragment size but different repeat structures were found. The allele designation described here was adopted to the number of repeats, including all variable regions within the amplified fragment. In a second step the most commonly occurring alleles were added to an allelic ladder for each marker allowing a reliable typing of all alleles differing in size. A total number of 142 unrelated dogs from surrounding municipal animal homes, private households, and canines in police duty were analyzed. The data were added to a population database providing allele frequencies for each marker. 相似文献
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David W. Gjertson Charles H. Brenner Max P. Baur Angel Carracedo Francois Guidet Juan A. Luque Rüdiger Lessig Wolfgang R. Mayr Vince L. Pascali Mechthild Prinz Peter M. Schneider Niels Morling 《Forensic Science International: Genetics Supplement Series》2007,1(3-4):223-231
The Paternity Testing Commission (PTC) of the International Society for Forensic Genetics has taken up the task of establishing the biostatistical recommendations in accordance with the ISO 17025 standards and a previous set of ISFG recommendations specific to the genetic investigations in paternity cases. In the initial set, the PTC recommended that biostatistical evaluations of paternity are based on a likelihood ratio principle – yielding the paternity index, PI. Here, we have made five supplementary biostatistical recommendations. The first recommendation clarifies and defines basic concepts of genetic hypotheses and calculation concerns needed to produce valid PIs. The second and third recommendations address issues associated with population genetics (allele probabilities, Y-chromosome markers, mtDNA, and population substructuring) and special circumstances (deficiency/reconstruction and immigration cases), respectively. The fourth recommendation considers strategies regarding genetic evidence against paternity. The fifth recommendation covers necessary documentation, reporting details and assumptions underlying calculations. The PTC strongly suggests that these recommendations should be adopted by all laboratories involved in paternity testing as the basis for their biostatistical analysis. 相似文献
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Prieto L Montesino M Salas A Alonso A Albarrán C Alvarez S Crespillo M Di Lonardo AM Doutremepuich C Fernández-Fernández I de la Vega AG Gusmão L López CM López-Soto M Lorente JA Malaghini M Martínez CA Modesti NM Palacio AM Paredes M Pena SD Pérez-Lezaun A Pestano JJ Puente J Sala A Vide M Whittle MR Yunis JJ Gómez J;Spanish Portuguese Working Group of the International Society of Forensic Genetics 《Forensic science international》2003,134(1):46-53
We report the results of Spanish and Portuguese working group (GEP) of International Society of Forensic Genetics (ISFG) Collaborative Exercise 2001-2002 on mitochondrial DNA (mtDNA) analysis. 64 laboratories from Spain, Portugal and several Latin-American countries participated in this quality control exercise. Five samples were sent to the participating laboratories, four blood stains (M1-M4) and a sample (M5) consisting of two hair shaft fragments. M4 was non-human (Felis catus) in origin; therefore, the capacity of the labs to identify the biological source of this sample was an integral part of the exercise. Some labs detected the non-human origin of M4 by carrying out immuno-diffussion techniques using antihuman serum, whereas others identified the specific animal origin by testing the sample against a set of animal antibodies or by means of the analysis of mtDNA regions (Cyt-b, 12S, and 16S genes). The results of the other three human blood stains (M1-M3) improved in relation to the last Collaborative Exercises but those related to hairs yielded a low rate of success which clearly contrasts with previous results. As a consequence of this, some labs performed additional analysis showing that the origin of this low efficiency was not the presence of inhibitors, but the low quantity of DNA present in these specific hair samples and the degradation.As a general conclusion the results emphasize the need of external proficiency testing as part of the accreditation procedure for the labs performing mtDNA analysis in forensic casework. 相似文献
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J.J. Builes R.E. Martinez C. Espinal M.L. Bravo 《Forensic Science International: Genetics Supplement Series》2008,1(1):140-141
The X-linked short tandem repeats (STR) markers have proven to be very useful tools for paternity testing when the disputed child is female. The aim of this study was to describe the polymorphism of three X-chromosomal STR loci (DXS6797, DXS6800 and HPRTB) in an Antioquian (Colombian) population sample. PCR products were separated in 4% acrylamide-bis-acrylamide denaturing gels followed by silver staining. Allele size determination and genotyping were performed according to recommendations of the DNA Commission of the International Society of Forensic Genetic using the allelic ladder manufactured at home and based on DNA controls including K562 and 9947A (Promega). Gene frequencies were calculated using ARLEQUIN version 3.11. Population genetic data were obtained by analyzing 127-400 unrelated males and 135 unrelated females from Antioquian (Colombian) population. Distribution of the allele frequencies of these systems for Antioquia population is similar to the European populations. 相似文献
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There have been several efforts to codify the approach to interpreting DNA evidence [National Research Council, The Evaluation of Forensic DNA Evidence, National Academy Press, Washington, DC, 1996; I.W. Evett, B.S. Weir, Interpreting DNA Evidence: Statistical Genetics for Forensic Scientists Sinauer, Sunderland, MA, 1998]. Despite these efforts there are still aspects of ad hoc decision making in modern DNA interpretation. This article discusses some of the remaining areas of concern in this respect. Because of the immense discriminating power of DNA evidence it is unlikely that these concerns would contribute to a miscarriage of justice. They are more likely to lead to lengthy and wasteful debate in court, and to potential appeals. We advocate a previously developed approach to DNA evidence [Sci. Justice 39 (4) (1999) 257; B.S. Weir, in: D.J. Balding, C. Cannings, M. Bishop (Eds.), Handbook of Statistical Genetics, Wiley Series in Probability and Statistics, Wiley, New York, ISBN: 0-471-86094-8, 2001; J. R. Stat. Soc. A 158 (1) (1995) 21] that would give a more solid logical foundation and hopefully lead to sounder and less debatable testimony. 相似文献
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《Forensic Science International Supplement Series》2006,160(2-3):157-167
We report here a review of the seventh mitochondrial DNA (mtDNA) exercise undertaken by the Spanish and Portuguese working group (GEP) of the International Society for Forensic Genetics (ISFG) corresponding to the period 2003–2004. Five reference bloodstains from five donors (M1–M5), a mixed stain of saliva and semen (M6), and a hair sample (M7) were submitted to each participating laboratory for nuclear DNA (nDNA; autosomal STR and Y-STR) and mtDNA analysis. Laboratories were asked to investigate the contributors of samples M6 and M7 among the reference donors (M1–M5). A total of 34 laboratories reported total or partial mtDNA sequence data from both, the reference bloodstains (M1–M5) and the hair sample (M7) concluding a match between mtDNA profiles of M5 and M7. Autosomal STR and Y-STR profiling was the preferred strategy to investigate the contributors of the semen/saliva mixture (M6). Nuclear DNA profiles were consistent with a mixture of saliva from the donor (female) of M4 and semen from donor M5, being the semen (XY) profile the dominant component of the mixture. Strikingly, and in contradiction to the nuclear DNA analysis, mtDNA sequencing results yield a more simple result: only the saliva contribution (M4) was detected, either after preferential lysis or after complete DNA digestion. Some labs provided with several explanations for this finding and carried out additional experiments to explain this apparent contradictory result. The results pointed to the existence of different relative amounts of nuclear and mtDNAs in saliva and semen. We conclude that this circumstance could strongly influence the interpretation of the mtDNA evidence in unbalanced mixtures and in consequence lead to false exclusions. During the GEP-ISFG annual conference a validation study was planned to progress in the interpretation of mtDNA from different mixtures. 相似文献
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Crespillo M Paredes MR Prieto L Montesino M Salas A Albarran C Alvarez-Iglesias V Amorin A Berniell-Lee G Brehm A Carril JC Corach D Cuevas N Di Lonardo AM Doutremepuich C Espinheira RM Espinoza M Gómez F González A Hernández A Hidalgo M Jimenez M Leite FP López AM López-Soto M Lorente JA Pagano S Palacio AM Pestano JJ Pinheiro MF Raimondi E Ramón MM Tovar F Vidal-Rioja L Vide MC Whittle MR Yunis JJ Garcia-Hirschfel J 《Forensic science international》2006,160(2-3):157-167
We report here a review of the seventh mitochondrial DNA (mtDNA) exercise undertaken by the Spanish and Portuguese working group (GEP) of the International Society for Forensic Genetics (ISFG) corresponding to the period 2003-2004. Five reference bloodstains from five donors (M1-M5), a mixed stain of saliva and semen (M6), and a hair sample (M7) were submitted to each participating laboratory for nuclear DNA (nDNA; autosomal STR and Y-STR) and mtDNA analysis. Laboratories were asked to investigate the contributors of samples M6 and M7 among the reference donors (M1-M5). A total of 34 laboratories reported total or partial mtDNA sequence data from both, the reference bloodstains (M1-M5) and the hair sample (M7) concluding a match between mtDNA profiles of M5 and M7. Autosomal STR and Y-STR profiling was the preferred strategy to investigate the contributors of the semen/saliva mixture (M6). Nuclear DNA profiles were consistent with a mixture of saliva from the donor (female) of M4 and semen from donor M5, being the semen (XY) profile the dominant component of the mixture. Strikingly, and in contradiction to the nuclear DNA analysis, mtDNA sequencing results yield a more simple result: only the saliva contribution (M4) was detected, either after preferential lysis or after complete DNA digestion. Some labs provided with several explanations for this finding and carried out additional experiments to explain this apparent contradictory result. The results pointed to the existence of different relative amounts of nuclear and mtDNAs in saliva and semen. We conclude that this circumstance could strongly influence the interpretation of the mtDNA evidence in unbalanced mixtures and in consequence lead to false exclusions. During the GEP-ISFG annual conference a validation study was planned to progress in the interpretation of mtDNA from different mixtures. 相似文献