DNA Commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs

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.     

Paternity Testing Commission of the International Society of Forensic Genetics: recommendations on genetic investigations in paternity cases

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.     

DNA commission of the International Society of Forensic Genetics: Recommendations on the interpretation of mixtures

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.     

DNA commission of the International Society of Forensic Genetics: Recommendations on the interpretation of mixtures

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.     

Y-STRs in forensic medicine: DNA analysis in semen samples of azoospermic individuals

ABSTRACT: The incidence of rape has increased, especially in metropolitan areas, such as the city of São Paulo. In Brazil, studies about it have shown that the majority of this type of crime is committed by the relatives and persons close to the victim. This has made the crime more difficult to be denounced, as only 10% of the cases are reported to competent police authorities. Usually, cytological exams are carried out in sex crime investigations. The difficulty in showing the presence of spermatozoa is frequent, but it does not exclude the presence of male DNA. The absence of spermatozoa in material collected from rape victims can be due to several factors, including the fact that the agressor suffers from azoospermia. This condition can be the result of a successful vasectomy. As the majority of DNA in the ejaculation sample is from spermatozoa, there is much less DNA to be analyzed. This study presents the application of Y‐STRs (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, and DYS393) in DNA analysis of sperm samples from 105 vasectomized men. The study demonstrated a great variation in DNA concentration. DNA extraction and amplification was possible in all sperm samples even in the absence of spermatozoa. The same profile was observed, for each individual, from DNA extracted from blood, pre‐ and postvasectomy semen samples. The use of markers specific for Y chromosome in sex crime cases, especially in the absence of spermatozoa, is very important, mainly because in most situations there is a small quantity of the agressor's DNA in the medium and a large quantity of the victim's DNA.     

中国法医学会物证专业委员会法医DNA分析的若干建议

中国法医学会法医物证学专业委员会与国际法医遗传学会中文专委会于2006年10月在成都召开学术会议。我们的讨论强调有必要将国际法医遗传学会的信息及时传递到中国。因此,按照国际法医遗传学会的指南,我们推荐混合斑分析,法医DNA数据库及新遗传标记选择标准供同行参考。     

The 1998-1999 collaborative exercises and proficiency testing program on DNA typing of the Spanish and Portuguese Working Group of the International Society for Forensic Genetics (GEP-ISFG)

A total of 28 laboratories (labs) submitted results for the 1998 collaborative exercise and the proficiency testing program of the Spanish and Portuguese Working Group of the International Society for Forensic Genetics (GEP-ISFG) group. This number increased to 46 labs in 1999. Six bloodstains were submitted, each one with 200 microl soaked in cotton except the sample no. 6 submitted for DNA quantification which had 2 microl. One of the samples was a mixed stain. A paternity testing case and a criminal case in the 1998 trial (GEP'98) and two paternity testing cases in 1999 (GEP'99) were included and the statistical evaluation of the evidence was requested in both cases. In the GEP'99 trial, a theoretical paternity testing case was included. A total of 52 DNA genetic markers were used by the participants in the GEP'98 trial, which increased to 101 in GEP'99. Despite this increasing number of participating labs, results remained quite satisfactory. All the labs used PCR-based DNA polymorphisms with an increasing number of markers, obtaining good results. SLPs were used by a decreasing number of labs but the results indicated a good level of expertise despite the different protocols used.Good results were also obtained for mtDNA despite the difficulties presented by the samples due to the presence of length heteroplasmy in some samples in both trials. The detection of heteroplasmy should, however, be improved.Similar conclusions were reached for both, the paternity and the criminal case by all the labs. Common methodologies for the statistical evaluation of the paternity case were used and the paternity index and the probability of paternity (with an a priori value of 0.5) reported by most of the labs. Also, a great uniformity was found in the evaluation of the criminal case despite the lack of a specific hypothesis in the design of the exercise. Some errors in statistical programs or in calculations were detected in a theoretical paternity case included in the GEP'99 trial for statistical analysis.     

Identity in Question: A Grammatology of DNA and Forensic Genetics

International Journal for the Semiotics of Law - Revue internationale de Sémiotique juridique -     

Results of the 2009 Paternity Testing Workshop of the English Speaking Working Group of the International Society for Forensic Genetics

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%.     

A report of the 2002–2008 paternity testing workshops of the English speaking working group of the International Society for Forensic Genetics

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.     

A report of the 1997, 1998 and 1999 Paternity Testing Workshops of the English Speaking Working Group of the International Society for Forensic Genetics

We present the results of the 1997, 1998 and 1999 Paternity Testing Workshops of the English Speaking Working Group of the International Society for Forensic Genetics. The numbers of participating laboratories were 24 (1997), 31 (1998) and 32 (1999). In 1997, all laboratories drew the correct conclusion that the alleged father was the biological father of the child. In 1998, the alleged father was the biological brother of the child and all laboratories excluded him. The scenario in 1999 was a deficiency case consisting of mother, child and the parents of the alleged father and all but one laboratory drew the correct conclusion.The percentage of laboratories routinely performing variable number of tandem repeat (VNTR) investigations using single locus probes (SLPs) and restriction fragment length polymorphism (RFLP) decreased from 83% in 1997 to 66% in 1999. In the three workshops, more than 90% of the laboratories used polymerase chain reaction (PCR) based systems. In 1999, 80% of the laboratories performing PCR, used commercially available short tandem repeat (STR) kits. Other commonly used systems were HLA and PolyMarker investigated with PCR. Conventional systems and RFLP investigations of VNTRs with multi loci probes (MLPs) were used routinely by approximately 20% of the participating laboratories.All laboratories submitting results in the three workshops used RFLP-based VNTRs or/and PCR based VNTRs/STRs. Inter-laboratory comparisons of the results showed a very high concordance. The overall coefficients of variation between the laboratories of the results of RFLP typing of the commonly used VNTRs D2S44, D7S21, D7S22 and D12S11 were 1.2-1.3%. Consistent results were obtained in the great majority of the systems investigated by PCR and typing errors counted for less than 0.3% of the PCR based results.     

The use of Megaselia abdita (Diptera: Phoridae) in forensic entomology

This case study demonstrates the importance of the Phorid, Megaselia abdita (Schmitz), as an indicator for post-mortem interval estimation in criminal investigations involving forensic entomology where it is usually the more frequently occurring Calliphorids that are most useful. A case example is discussed where the temperatures were low for the period of time the deceased was missing.     

Applicability of DNA analysis on adhesive tape in forensic casework

Adhesive tape is commonly used in crimes and is often the subject of forensic evaluation. DNA analysis of adhesive tape can provide DNA profiles of suspects. The object of this study was to evaluate the applicability of DNA analysis on adhesive tape samples in forensic casework. We retrospectively reviewed all cases involving adhesive tape or similar items received by our institute for DNA analysis during the past 11 years. From 100 forensic cases reviewed, 150 adhesive tape samples were examined. A total of 98 DNA profiles were obtained from these samples. Sixty-two of the profiles provided feasible case-relevant information. In conclusion, DNA profiling of adhesive tape samples can be useful in a variety of forensic cases.     

History of forensic serology and molecular genetics in the sphere of activity of the German Society for Forensic Medicine

In the field of forensic serology, essential developmental impulses have come from the sphere of activity of the German Society for Forensic Medicine. Among these are the orientating enzyme-reactive and specific tests for blood using crystallization tests, the determination of the species-specificity of the donor of the stain and the beginning of the individualization of a stain to its donor. Pioneering work has also been done in the development of blood group serology of the conventional markers. DNA analysis originated in the Anglo-Saxon region. The German Society for Forensic Medicine also contributed to its further progress and essentially influenced it e.g. by the discovery of microsatellite markers, including STRs, by the validation of numerous test methods, by optimization of these methods and by preliminary work for the use of mass spectrometry in DNA analysis.     

The use of emission spectrum analysis in the forensic medical expertise of gunshot wounds (experimental research)

Presents the methodology of experimental shots from various guns (n = 11) by common cartridges and of emission spectral analysis (ESA) which was used to study the regularities in deposition of "gunshot metals" at the site of gunshot injuries and to detect the characteristic differences in shooting with and without obstacles. Effects of some factors on deposition of metal components of gunshot products at the site of gunshot injuries are studied: type of gun, shell (with/without coating or semicoated), presence of obstacles, distance, and order of the shot. Results of studies are presented for some guns, which may be useful in forensic medical expert evaluations by means of ESA.