Motherless case in paternity testing

In paternity test using the DNA evidence, the analysis of the deficient case that the DNA profiles of mother or alleged father are not available is different from that of the trio case analyzed routinely. However, the motherless case that the genotypes of mother is not available has been requested and analyzed like the trio case. In this paper, we compared the motherless case and the trio case through the mean exclusion chance describing the probability of exclusion for a genetic marker system and the distribution of the probability of paternity calculated using the three current methods. We have also shown a case which can be falsely discriminated if it were requested in the analysis of the motherless case, and conclude that the analysis of the motherless case should be carefully conducted and the level for the discrimination should be different from that of the trio case.     

An efficient statistical procedure for interpreting DNA single locus profiling data in crime cases.

This paper describes a simplified approach to calculating the Bayesian likelihood ratio for the case where two DNA single locus profiles are to be compared. It explains how the calculation allows for band shift and also for the variation in precision with molecular weight. A simple basic theory section explains the principles of the analysis but more detailed explanations are given in an advanced theory section. Experiments on substantial data collections are described which demonstrate the robustness of the method.     

Paternity calculations from DNA multilocus profiles

DNA profiles prepared using multilocus probes can provide valuable evidence in cases of disputed parentage. This paper describes a simple approach to the analysis of the profiles from a mother, child and putative father in a case of disputed paternity. Although the treatment has not yet been extended to deal with cases in which mutant bands may have appeared, it has already proved useful in casework. The analysis is illustrated by a numerical example calculated on a computer spreadsheet.     

Paternity probability when a relative of the father is an alleged father

When scientists use DNA evidence in court, coancestry effects such as population structure and relatedness are usually ignored. In paternity cases, only if a particular man has the child's paternal allele at a certain locus, can he not be excluded in the paternity dispute. However, it is certainly true that close relatives will be far more likely to have the child's paternal allele than will random members of the reference population. In particular, the probability that the true father's brother has the paternal allele is very much greater than that for any other relationship. In this paper, the authors describe a method for inference in a case where the true father may be a relative of the alleged father. This paper also reports that most current methods overstate the probability that the alleged father is the father.     

Sexual assault cases related to unknown perpetrator: Almost 50% of the analyzed cases corresponded to serial offenders

As a collaborative effort in solving sexual assault cases where there is no suspect, the DNA profiles associated with 273 cases were analyzed. Such cases were submitted from different Criminal Investigation Units belonging to eight judicial departments of Buenos Aires Province. A single NN male profile was recovered from the evidences by differential lysis with DNA IQ System (Promega) and typing with IdentiFiler kit. Comparative analysis of the compiled DNA profiles showed that in 45% of the cases the evidence DNA profile matched in at least two unrelated cases. Associations between groups of unsolved cases provided a valuable tool in aiding law enforcement investigations.     

Recovery and STR amplification of DNA from RFLP membranes

Restriction fragment length polymorphism (RFLP) techniques were utilized in the forensic DNA community until the mid 1990s when less labor-intensive polymerase chain reaction short tandem repeat (PCR STR) techniques became available. During the transition from RFLP technology to PCR-based STR platforms, a method for comparing RFLP profiles to STR profiles was not developed. While the preferred approach for applying new technology to old cases would be to analyze the original biological stain, this is not always possible. For unsolved cases that previously underwent RFLP analysis, the only DNA remaining may be restriction cut and bound to nylon membranes. These studies investigate several methods for obtaining STR profiles from membrane bound DNA, including removal of bound DNA with bases, acids, detergents, various chemicals, and conventional cell extraction solutions. Direct multiplex STR amplification of template in the membrane-bound state was also explored. A partial STR profile was obtained from DNA that was recovered from an archived membrane using conventional extraction buffer components, indicating promise for recovering useful STR information from RFLP membranes that have been maintained in long-term frozen storage.     

Comparison of the Volatile Organic Compounds from Different Biological Specimens for Profiling Potential*

Previous work has demonstrated the ability to differentiate individuals based on the analysis of human scent hand odor chemicals. In this paper, a range of forensic biological specimens are shown to also have the ability to differentiate individuals based upon the volatile organic compounds (VOCs) present. Human VOC profiles from hand odor, oral fluid, breath, blood, and urine of 31 individuals were analyzed by solid‐phase microextraction–gas chromatography–mass spectrometry (SPME‐GC‐MS) and combined methods of chromatogram comparison, Spearman rank correlation comparison, and principal component analysis. Intra‐specimen comparisons demonstrated the distinguishability of individuals above 99%. Inter‐specimen VOC profiles from the same individual were found to be too different to be used for scent‐matching purposes, with Spearman rank coefficients below 0.15. A 6‐month VOC profile monitoring of two individuals demonstrated the consistency of VOC profiles over time across specimens.     

The detection of ephedrine by solid-phase immunoenzyme analytical and gas chromatographic methods

Comparative analysis of ephedrine derivative content in 96 urine specimen obtained from people suspected in abuse with these drugs. Physical and chemical methods of the analysis (gas and thin-layer chromatography) as well as ELISA were used. It was stated that the latter is specific for determination of compounds related to ephedrine by structure and it allows one to detect its analogues in 87 cases. Gas chromatography made it possible to detect ephedrine derivatives in 94 specimen tested and thin-layer chromatography--in 64 specimen tested. The given ELISA may be recommended for medicolegal expert purposes and narcology practice.     

Using the Nondonor Distribution to Improve Communication and Inform Decision Making for Low LRs from Minor Contributors in Mixed DNA Profiles

The reporting of a likelihood ratio (LR) calculated from probabilistic genotyping software has become more popular since 2015 and has allowed for the use of more complex mixtures at court. The meaning of “inconclusive” LRs and how to communicate the significance of low LRs at court is now important. We present a method here using the distribution of LRs obtained from nondonors. The nondonor distribution is useful for examining calibration and discrimination for profiles that have produced LRs less than about 10⁴. In this paper, a range of mixed DNA profiles of varying quantity were constructed and the LR distribution considering the minor contributor for a number of nondonors was compared to the expectation given a calibrated system. It is demonstrated that conditioning genotypes should be used where reasonable given the background information to decrease the rate of nondonor LRs above 1. In all 17 cases examined, the LR for the minor donor was higher than the nondonor LRs, and in 12 of the 17 cases, the 99.9 percentile of the nondonor distribution was lower when appropriate conditioning information was used. The output of the tool is a graph that can show the position of the LR for the person of interest set against the nondonor LR distribution. This may assist communication between scientists and the court.     

Some implications of the Human Rights Act 1998 for the medical treatment of children

Although the Gillick decision was hailed as an important step in the furtherance of respect for children's autonomy, subsequent judgments seemed to undermine this important principle. While it would be difficult to criticise the outcomes of some of the key cases, the reasoning by which these were achieved is rather more contentious. There have been some interesting discussions suggesting more constructive approaches but there is still a great deal of anecdotal evidence indicating that conservative assessments of children's ability to be involved in decisions about their medical treatment remain the norm. The new Department of Health consent forms should help to create a climate where assessment of a child's competence will become more sophisticated. This paper will argue that the Human Rights Act 1998 offers another opportunity to reassess more traditional approaches to children's capacity; indeed, this could be violation, inter alia, of the right not to be subject to inhuman and degrading treatment under Article 3 in extreme circumstances and the right to private and family life enshrined in Article 8. Clearly, it is not always practicable to carry out assessments rigorously and some health professionals may feel they do not have the expertise to do this, but some basic criteria could assist here; courts are not likely to expect more than a demonstration that best endeavors have been employed in reasoned decision-making. Additionally, other privacy rights may have implications for the medical decision-making process as it affects children and their carers particularly where conflict arises. Disputes may also ensue from the right to manifest religion and other beliefs",' under the Act. This paper will explore how such challenges to those responsible for the medical treatment of children may fare.     

An investigation of two methods of DNA recovery from fired and unfired 9 mm ammunition

Cartridge cases are often recovered from crime scenes involving firearms and, in the United Kingdom (where gun possession is strictly controlled), these are commonly from 9 mm calibre ammunition. The ability to obtain informative DNA profiles from touch DNA on recovered cartridges could have a significant impact on the investigation of that type of offence. However, this avenue may not be routinely considered as investigators in the UK have historically had a low expectation of obtaining useful DNA profiles. This stance may not be unreasonable given that (a) only trace amounts of DNA are likely to have been transferred onto the cartridge cases through handling; and (b) when the cartridge is spent, the potential deterioration of that DNA caused by the act of discharging the weapon.We introduce a novel semi-automatable method using direct lysis for the recovery of DNA from ammunition and compare it with a traditional double-swabbing method (using wet and dry swabs). DNA profiling of the DNA recovered using both methods was carried out using the ESI17 FAST STR system (Promega). This demonstrated a significant increase in DNA recovery using the direct lysis approach, and correspondingly improved STR results.We also investigated the effect on the recovery and profiling of DNA from fired, and unfired, 9 mm cartridges using the direct lysis technique. These results demonstrate that DNA suitable for STR analysis can still be recovered from fired ammunition with only slightly reduced yields compared to unfired ammunition. In these experiments, the handler of the ammunition was most commonly either the sole contributor or the major contributor to the recovered DNA profile.     

Use of DNA profiles for investigation using a simulated national DNA database: Part II. Statistical and ethical considerations on familial searching

Familial searching consists of searching for a full profile left at a crime scene in a National DNA Database (NDNAD). In this paper we are interested in the circumstance where no full match is returned, but a partial match is found between a database member's profile and the crime stain. Because close relatives share more of their DNA than unrelated persons, this partial match may indicate that the crime stain was left by a close relative of the person with whom the partial match was found. This approach has successfully solved important crimes in the UK and the USA. In a previous paper, a model, which takes into account substructure and siblings, was used to simulate a NDNAD [1]. In this paper, we have used this model to test the usefulness of familial searching and offer guidelines for pre-assessment of the cases based on the likelihood ratio. Siblings of “persons” present in the simulated Swiss NDNAD were created. These profiles (N = 10,000) were used as traces and were then compared to the whole database (N = 100,000). The statistical results obtained show that the technique has great potential confirming the findings of previous studies. However, effectiveness of the technique is only one part of the story. Familial searching has juridical and ethical aspects that should not be ignored. In Switzerland for example, there are no specific guidelines to the legality or otherwise of familial searching. This article both presents statistical results, and addresses criminological and civil liberties aspects to take into account risks and benefits of familial searching.     

Evaluating DNA profiles in a case where the defence is "it was my brother".

The widespread application of DNA profiling has brought to some prominence the issue of close relatives sharing body fluid types. In a particular crime case it may be suggested that a close relative of the suspect was the person responsible. This paper explains how an assessment may be made in the context of single locus profiling and where the suggestion is that a full sibling is involved. A formula is established for the likelihood ratio which is then worked out in detail for the particular case where the suspect profile has two distinct bands. Generalization to other types of case is briefly explained and there is a short discussion of the impact of the evidence in the context of a trial. For all parties, justice will best be done if the scientist has ample notice, before the trial, of relationship issues such as this one.     

Visualization of biological traces on evidence by ninhydrin

Because of possible contamination of samples with PCR inhibitors and to avoid the typing of mixed profiles the source material for forensic DNA investigations should be collected as directly and securely as possible from the evidence. This approach requires a detectability of the source material which is often not given. The procedure introduced here using selected cases enables visualization of DNA-containing materials on evidence and hence controlled analysis. For this purpose the specimen is treated with ninhydrin. A following dye reaction verifies the presence of biological material, which possibly contains DNA. An impact on subsequent STR-analysis was not observed.     

Recommendations for consistent treatment of length variants in the human mitochondrial DNA control region

Human mitochondrial DNA (mtDNA) analysis is a valuable forensic tool, useful in cases where the amount of extracted DNA is low or highly degraded. Population databases are used to determine the relative rarity of a particular profile obtained in a forensic case. Rather than full DNA sequence information, sequence profiles are compared to a reference sequence, and the differences from the reference are recorded in forensic databases. A standard method is proposed for characterizing length variants, and examples are described using actual human control region mtDNA profiles. Consistency in alignment and nomenclature avoids inadvertently describing two sequences as different when in fact they are the same.     

A Windows-based software for common paternity and sibling analyses

A new Windows-based freeware for kinship analysis from DNA data is presented. This software can be used to calculate likelihood ratios and probabilities of paternity in trio and motherless cases, as well as in cases when a parent is lacking but there are data from the grandparents. It can also be used to compute the probability of two subjects being full-brothers or half-brothers.     

Forensic Imaging‐Guided Recovery of Nuclear DNA from the Spinal Cord*,†

Abstract: Our objective is to document the recovery of DNA from the spinal cord or surrounding dura mater in 11 cases of severely burned human remains. Radiographs established that portions of charred tissue contained spine segments. Multidetector computed tomography (MDCT) revealed that each spine specimen contained an intact spinal cord remnant. A full DNA profile was obtained from seven specimens using spinal cord dura mater in six specimens and spinal cord medulla in one specimen. A partial profile was obtained from four specimens (spinal cord dura mater, 2; spinal cord medulla, 2). Bone and muscle surrounding the spinal cord appear to insulate nucleic acid containing tissue from critical thermal degradation. The spinal cord, which is easily identified by MDCT examination of remains and easily recovered at the postmortem examination, can be a source of DNA with extraction yields comparable with other tissue sources. Specimens of dura mater are preferable as processing time is faster than bone.     

Forensic mitochondrial DNA analysis of 691 casework hairs

A five year retrospective review of mitochondrial DNA (mtDNA) analysis on 691 casework hairs was carried out. A full or partial mtDNA profile was obtained for > 92% of hairs. With increasing age of the hair, the likelihood of obtaining a full profile decreased, although "mini-primer sets" could often be used to capture a partial profile. With increasing color and diameter of the hair, the likelihood of obtaining a profile increased. Full or partial profiles were obtained on more than 80% of 114 hairs < or = 1.0 cm. Mixtures were observed in 8.7% of hairs tested; mixtures increased with the age of the hair and were presumed to be due to exterior surface contamination that could not be sufficiently cleaned prior to extraction, since the overall level of laboratory contamination was low. The frequency of sequence heteroplasmy was 11.4%, and both hot-spot and novel sites were observed. In about one-third of these observations, another sample in the case showed either the same heteroplasmic site or a nucleotide substitution at that site.     

Combined Statistical Analyses of Forensic Evidence in Sexual Assault: A Case Report and Brief Review of the Literature

DNA analysis has been widely used in the forensic field in order to contribute to identifying the perpetrator of a crime. Forensic investigation in sexual assaults usually focuses on locating and identifying biological fluids, followed by DNA analysis. The identification of certain compounds present in condoms can be useful to reconstruct the occurred event, especially in cases of sexual assaults where the DNA analysis did not show the presence of a male profile and where RNA analysis did not show the presence of sperm markers. Herein we describe the case of a woman reporting to be victim of sexual assault, who was not able to provide accurate information concerning the dynamics of the event; she remembered only forced penile–vaginal penetration by a single perpetrator. We performed short tandem repeat (STR) analyses and mRNA typing for forensic genetics testing on vaginal and rectal swabs collected on the victim, and Fourier-transform infrared spectroscopy (FTIR) followed by chromatographic analyses for the detection of condom compounds on the same swabs. The STR analysis showed only the victim’s genetic profile, and RNA analysis showed only the presence of vaginal and skin markers. In this situation, the identification of condom compounds residues on vaginal swabs became important as it complemented other collected evidences allowing the Court to reconstruct the events. A proposal of likelihood ratio (LR) calculation for the assessment of the weight of evidence in this case is described.