Field Of Forensic Genetics Research Articles

Increasing the reach of forensic genetics with massively parallel sequencing.

The field of forensic genetics has made great strides in the analysis of biological evidence related to criminal and civil matters. More so, the discipline has set a standard of performance and quality in the forensic sciences. The advent of massively parallel sequencing will allow the field to expand its capabilities substantially. This review describes the salient features of massively parallel sequencing and how it can impact forensic genetics. The features of this technology offer increased number and types of genetic markers that can be analyzed, higher throughput of samples, and the capability of targeting different organisms, all by one unifying methodology. While there are many applications, three are described where massively parallel sequencing will have immediate impact: molecular autopsy, microbial forensics and differentiation of monozygotic twins. The intent of this review is to expose the forensic science community to the potential enhancements that have or are soon to arrive and demonstrate the continued expansion the field of forensic genetics and its service in the investigation of legal matters.

The importance of ensuring quality and minimising the risks of contamination in genetics forensic analysis

The high sensitivity achieved in genetic analysis of forensic interest allows to obtain genetic profiles from minimal traces of biological material deposited on the evidence before or even subsequent to the events under investigation. Accidental contamination of biological evidence and erroneous interpretation of genetic findings have important implications with the consequent impact on the judicial process. Minimising and detecting the presence of accidental contamination that may be generated during some phases of collection of samples or genetic analysis are a priority for forensic genetics laboratories. This article reviews legislation and national and international standards applicable to field of forensic genetics, which aim to ensure the quality of expert evidence and the reliability of the conclusions reached in the expert reports.

Automation of DNA and miRNA co-extraction for miRNA-based identification of human body fluids and tissues.

In the last years, microRNA (miRNA) analysis came into focus in the field of forensic genetics. Yet, no standardized and recommendable protocols for co-isolation of miRNA and DNA from forensic relevant samples have been developed so far. Hence, this study evaluated the performance of an automated Maxwell® 16 System-based strategy (Promega) for co-extraction of DNA and miRNA from forensically relevant (blood and saliva) samples compared to (semi-)manual extraction methods. Three procedures were compared on the basis of recovered quantity of DNA and miRNA (as determined by real-time PCR and Bioanalyzer), miRNA profiling (shown by Cq values and extraction efficiency), STR profiles, duration, contamination risk and handling. All in all, the results highlight that the automated co-extraction procedure yielded the highest miRNA and DNA amounts from saliva and blood samples compared to both (semi-)manual protocols. Also, for aged and genuine samples of forensically relevant traces the miRNA and DNA yields were sufficient for subsequent downstream analysis. Furthermore, the strategy allows miRNA extraction only in cases where it is relevant to obtain additional information about the sample type. Besides, this system enables flexible sample throughput and labor-saving sample processing with reduced risk of cross-contamination.

La importancia de garantizar la calidad y minimizar los riesgos de contaminación en el análisis genético forense

The high sensitivity achieved in genetic analysis of forensic interest allows to obtain genetic profiles from minimal traces of biological material deposited on the evidence before or even subsequent to the events under investigation. Accidental contamination of biological evidence and erroneous interpretation of genetic findings have important implications with the consequent impact on the judicial process. Minimising and detecting the presence of accidental contamination that may be generated during some phases of collection of samples or genetic analysis are a priority for forensic genetics laboratories. This article reviews legislation and national and international standards applicable to field of forensic genetics, which aim to ensure the quality of expert evidence and the reliability of the conclusions reached in the expert reports.

Polymorphism of 12 STR loci included in the Investigator HD-plex kit in Polish population of Lodz region.

In this study Polish population data as well as efficiency parameters of 12 STR loci included in the Investigator HDplex set were presented. This set contains 9 systems not available in any other commercial multiplexes, ie.: D2S1360, D3S1744, D4S2366, D5S2500, D6S474, D7S1517, D8S1132, D10S2325 and D21S2055. The evaluation was preformed based on DNA samples derived from 303 unrelated individuals living in Lodz region, central part of Poland. The obtained distribution of the genotypes is consistent with the assumptions of the Hardy and Weinberg equilibrium (HWE). It reflects properly genetic structure of the studied population compared with other populations of Europe and the world. It indicates the linkage equilibrium within the pairs of investigated loci, as well as with regard to other syntenic loci. The total value of the power of exclusion (PE) and the random match probability (MP) were respectively 0.99999988 and 5.2 × 10-18. Therefore the polymorphism of examined genetic markers within the Investigator HD-plex multiplex allows for a significant increase of the evidence value. Thus it constitutes an excellent tool for resolving difficult cases in the field of forensic genetics.

About DNA databasing and investigative genetic analysis of externally visible characteristics: A public survey

During the last decade, DNA profiling and the use of DNA databases have become two of the most employed instruments of police investigations. This very rapid establishment of forensic genetics is yet far from being complete. In the last few years novel types of analyses have been presented to describe phenotypically a possible perpetrator. We conducted the present study among German speaking Swiss residents for two main reasons: firstly, we aimed at getting an impression of the public awareness and acceptance of the Swiss DNA database and the perception of a hypothetical DNA database containing all Swiss residents. Secondly, we wanted to get a broader picture of how people that are not working in the field of forensic genetics think about legal permission to establish phenotypic descriptions of alleged criminals by genetic means.Even though a significant number of study participants did not even know about the existence of the Swiss DNA database, its acceptance appears to be very high. Generally our results suggest that the current forensic use of DNA profiling is considered highly trustworthy. However, the acceptance of a hypothetical universal database would be only as low as about 30% among the 284 respondents to our study, mostly because people are concerned about the security of their genetic data, their privacy or a possible risk of abuse of such a database. Concerning the genetic analysis of externally visible characteristics and biogeographical ancestry, we discover a high degree of acceptance. The acceptance decreases slightly when precise characteristics are presented to the participants in detail. About half of the respondents would be in favor of the moderate use of physical traits analyses only for serious crimes threatening life, health or sexual integrity. The possible risk of discrimination and reinforcement of racism, as discussed by scholars from anthropology, bioethics, law, philosophy and sociology, is mentioned less frequently by the study participants than we would have expected.A national DNA database and the widespread use of DNA analyses for police and justice have an impact on the entire society. Therefore the concerns of lay persons from the respective population should be heard and considered. The aims of this study were to draw a broader picture of the public opinion on DNA databasing and to contribute to the debate about the possible future use of genetics to reveal phenotypic characteristics. Our data might provide an additional perspective for experts involved in regulatory or legislative processes.

Genetic population data of 38 autosomal InDels for the Amerindian community Embera-Chami of Lapo, Antioquia-Colombia

This paper presents the genetic characterization of the Embera-Chami Amerindian community of Lapo-Antioquia-Colombia using 38 autosomal Indels. This group of markers showed a high discriminatory power (>99.9999%) and an appropriate power of exclusion (99.40%), allowing the use of these markers in the field of forensic genetics in this population.

Eyes wide open: the (mis)use of combined power of discrimination for X-linked short tandem repeats

In the field of Genetic Epidemiology it is well established that ignoring interallelic multipoint gametic disequilibrium (GD) introduces false-positive evidence of linkage for sibpair (kinship) analysis, especially in cases of sample deficiencies [1]. In the field of Forensic Genetics this proven concept is, in stark contrast, largely trivialized or ignored. There is an alarming accrual of forensic reports (Online Resource 1) announcing population data on short tandem repeats loci mapping on X chromosome (X-STRs) in which the product rule is applied to syntenic loci (i.e., being located on the same chromosome whether or not there is demonstrable genetic linkage between them), mostly ignoring the second law of Mendelian inheritance, and fundamental notions on genetic linkage status. We believe that the issue has been utterly disregarded, and thus it can no longer go unnoticed without opinion. We center our opinion at the most crucial aspect that underlies meaningful calculation of combined power of discrimination (CPD), as it applies to forensic and medical genetics: accurate knowledge about genetic linkage status of X-STRs loci [2]. X chromosome is endowed with distinctive characteristics mainly derived from how it is inherited by male and female offspring. Contrasting to autosomes, and excluding the pseudoautosomal regions present in both X and Y chromosomes, X chromosome recombination only occurs in females, so every existing X chromosome has evolved two-thirds of its history in them [3]. Syntenic loci may, in principle, be subjected to GD, which is a multifactorial evolutionary dynamic phenomenon that occurs at normal selection, characterized by significant and intensity-variable non-random associations of alleles at different DNA loci, physically mapped on the same (even though not necessarily) chromosomal DNA molecule [4]. GD is affected by, and therefore it is an indicator of, extreme allele frequencies, allele mutation rate, selection, genetic drift, gene flow, recombination, admixture, and the demographic history of populations [5]. A first conundrum with typing syntenic X-STRs loci is whether, and if so how, to compute the genotype evidence (phased our unphased diplotypes and male haplotypes) in favor of a matching hit (i.e., coinciding profiles) or against it (i.e., allelic exclusion). Solving this riddle will help responding the practical question ‘‘what is the evidential value of an X haplotype?’’ This problem is of considerable lesser extent in relation to the field of YSTRs haplotypes [6], from which important lessons ought to be learned. It helps to keep in mind that matching haplotypes can reflect either ‘‘identity by descend’’ (IBD; i.e., related haplotypes with no intervening mutations) or ‘‘identity by Electronic supplementary material The online version of this article (doi:10.1007/s11033-010-0518-z) contains supplementary material, which is available to authorized users.

STR analysis of degraded DNA using a miniplex

Analysis of short tandem repeat (STR) markers currently represents the most useful instrument in the field of forensic genetics. The problem with forensic material is the degradation of the sample material. In recent years, several papers have demonstrated that short amplicon STR (miniSTR) represents one of the most useful tools for analyzing degraded DNA samples. In the present study, we attempted to develop a short amplicon STR multiplex system (autosomal and y-chromosomal) for analyzing degraded DNA using some newly designed primer sets for a multiplex polymerase chain reaction (PCR) systems for typing. An assay of degraded DNA samples using the designed multiplex systems, including artificially degraded samples and degraded forensic casework samples, proved remarkably effective. Comparing the multiplex with commercial kits, first results show a well success rate.

Forensic DNA typing in China

In the field of forensic genetics, essential developmental impulses come from the advances of the molecular biology and human genome projects. This paper overviews existing technologies for forensic genetics in China and gives a perspective of forensic DNA analysis. In China, work has been done in the development of blood group serology of the conventional markers. Forensic scientists in China also contributed to the progress of DNA analysis by the validation of numerous test methods and by optimization of these methods. During these years, forensic DNA analysis in China has experienced tremendous progress towards development of robust, efficient and precise protocols, including the development of short tandem repeat analysis, mitochondrial DNA and Y-chromosome analysis. Forensic scientists are constantly looking for new methods to further improve DNA typing. Therefore, this paper also focuses on emerging new technologies in China, which represent an interest for forensic genetics.

法医学におけるＤＮＡ型鑑定の歴史

Since the method of minisatellites for the identification of humans with restriction-fragment-length polymorphism (RFLP) was reported by Jeffreys et al. in 1985, the revolution has taken place within the field of forensic genetics. In the crime case, the DNA markers have advantages over the traditional biological markers and the DNA technologies have been improved continuously. Today, the multiplex STR (short tandem repeat analysis) polymorphisms have become the major and widely used method for human identification test both in criminal investigation and mass disaster victim identification.

An X-STR meiosis study in Kurds and Germans: allele frequencies and mutation rates

X-linked short tandem repeats (X-STRs) play an important supplementary role in the field of forensic genetics, especially in deficiency cases. This paper presents population genetic data for the microsatellite markers DXS8378, DXS6800, DXS101, HPRTB, and DXS8377 in a German and a Kurdish population sample. Buccal swabs were obtained from 217 unrelated healthy German individuals (107 women and 110 men) from the area of Münster and 208 unrelated Kurdish individuals (103 women and 105 men), immigrants mainly from Northern Iraq. Additionally, more than 1,200 meiotic transfers (419 paternal and 819 maternal meioses) were investigated in the systems DXS6800, DXS101, and DXS8377. Five mutations were found in the system DXS8377. With the power of discrimination in females [PD(F)] ranging from 0.81 (DXS8378 in Kurds) to 0.99 (DXS8377 in Germans), the investigated X-STRs systems turned out to be highly informative in the two populations.

A study of Spanish attitudes regarding the custody and use of forensic DNA databases

One of the issues that has resulted in much disagreement in many countries at different levels concerns the kind of institution that should be given the responsibility of exercising custody over biological samples and the DNA profiles obtained from these samples. In the field of forensic genetics, there is no doubt that the existence of DNA criminal databases benefits the control and investigation of crime. However, certain criticism, supported to a great extent by the particular vision of genetic exceptionalism has been aimed at the ethical and social consequences resulting from the inappropriate use of such databases. In this sense, it was stated that the support of the population was required for those regulations that propose the extension of police powers in the collection and storage of biological samples, as well as their corresponding DNA analyses. Without such backing, such measures may cause society to distrust the nature of the protection afforded by the legal system and be interpreted as interference in the civil liberties and human rights of the individual. We believe that the opinion poll which has been carried out among the Spanish population may serve to reveal the public attitudes/criteria which society has with regard to those institutions responsible for the custody of DNA profile databases. Finally, it must be pointed out that when the interviewees were asked about what institution or institutions should protect and maintain data confidentiality 59.7% considered that custody should remain in the hands of the National Agency for DNA Profiles (a judicially backed, autonomous public institution).

Addressing Questions surrounding the Book of Mormon and DNA Research

Research Article| January 01 2006 Addressing Questions surrounding the Book of Mormon and DNA Research John M. Butler John M. Butler John M. Butler holds a doctoral degree in chemistry from the University of Virginia and is the author of eighty research articles and book chapters on human DNA, including essays on Y-chromosome and mitochondrial DNA as applied to human-identity testing. He has received a number of awards in the field of forensic genetics and is the author of the award-winning textbook Forensic DNA Typing, now in its second edition. In July 2002, Butler received the Presidential Early Career Award for Scientists and Engineers from President George W. Bush in a White House ceremony for his work in pioneering modern forensic DNA testing. He is currently employed as a research chemist in the Biochemical Science Division at the U.S. National Institute of Standards and Technology, where he directs a project team developing new DNA technologies for forensic and human-identity applications. Search for other works by this author on: This Site Google The FARMS Review (2006) 18 (2006) (1): 101–108. https://doi.org/10.5406/farmsreview.18.1.0101 Cite Icon Cite Share Icon Share Facebook Twitter LinkedIn MailTo Permissions Search Site Citation John M. Butler; Addressing Questions surrounding the Book of Mormon and DNA Research. The FARMS Review 1 January 2006; 18 (2006) (1): 101–108. doi: https://doi.org/10.5406/farmsreview.18.1.0101 Download citation file: Zotero Reference Manager EasyBib Bookends Mendeley Papers EndNote RefWorks BibTex toolbar search Search Dropdown Menu toolbar search search input Search input auto suggest filter your search All Scholarly Publishing CollectiveUniversity of Illinois PressMormon Studies Review Search Advanced Search The text of this article is only available as a PDF. Copyright 2006 by the Board of Trustees of the University of Illinois2006 Article PDF first page preview Close Modal You do not currently have access to this content.

Decision Analysis in Forensic Science

Forensic scientists are routinely faced with the problems of making decisions under circumstances of uncertainty (i.e., to perform or not perform a test). A decision making model in forensic science is proposed, illustrated with an example from the field of forensic genetics. The approach incorporates available evidence and associated uncertainties with the assessment of utilities (or desirability of the consequences). The paper examines a general example for which identification will be made of the decision maker, the possible actions, the uncertain states of nature, the possible source of evidence and the kind of utility assessments required. It is argued that a formal approach can help to clarify the decision process and give a coherent means of combining elements to reach a decision.

Forensic genetics

Forensic genetics

Validation of Cytochrome b Sequence Analysis as a Method of Species Identification

One of the stages of dealing with biological material submitted to forensic laboratories is species identification. The aim of the present work was to validate and assess the possibility of applying sequence analysis of the region coding cytochrome b as a method of species identification in the field of forensic science. DNA originating from individuals from major phyla of vertebrates was isolated by the organic method from various specimens. Extracted DNA was subjected to PCR and direct cycle sequencing using a universal pair of primers. The validation process, performed according to TWGDAM recommendations, revealed that the technique is a very sensitive and reliable method of species identification allowing analysis of tiny amounts of material and also degraded material, and can be useful in the field of forensic genetics. The case example presented here, concerning the determination of species origin of biological evidence collected from fatal road accident, confirms that analysis can be carried out even when there is no reference sample, and the sequences obtained can be assessed through analysis of their similarity to sequences for cytochrome b present in DNA databases.

Overview of Human Identity Testing and Forensic Genetics

This unit discusses the development of the field of forensic genetics, touching on the quality control and legal issues that are central to this area. It closes with a discussion of some caveats for interpreting forensic DNA results.

DNA in forensic genetics in Denmark

The use of genetic information obtained by investigations at the DNA level was introduced in forensic genetics in Denmark in the second half of the 1980s. After some initial hesitation, there is now a general consensus that results of investigations of DNA should be used in forensic genetics. Among scientist and users of the DNA investigations there is a consensus concerning the fact that DNA investigations—if properly performed—are the most reliable and informative tools in forensic genetics. The general use of DNA investigations has been the subject of public debate. The focus of the debate has gradually changed from the fear of the technology and the question if DNA technology should be banned towards the question how regulations may encourage ‘‘positive’’, wanted use of DNA technology and secure against ‘‘negative’’, unwanted use of the technology. This is also the case in the field of forensic genetics. The choice of techniques in forensic genetic investigations is not regulated by laws and there are no recommendations or restrictions on the use of DNA investigations compared to other forensic genetic methods. Until now, it seems as if the great majority—if not all—legal questions relating to DNA investigations have been covered more or less by other regulations. It has been debated if a DNA profile register for use in crime case investigations should be established in Denmark, and a report which will clarify the different aspects is expected to be published by the Ministry of Justice in the end of 1996. The general impression is that although details of a DNA profile register may be the subject of discussions—a political consensus in favour of the establishment of a DNA profile register will be reached in 1996 or 1997.