Efficient DNA Sampling in Burglary Investigations

In terms of crime scene investigations by means of forensic DNA-analyses, burglaries are the number one mass crime in Switzerland. Around one third of the DNA trace profiles registered in the Swiss DNA database are related to burglaries. However, during the collection of potential DNA traces within someone’s residence after a burglary, it is not known whether the sampled DNA originated from the perpetrator or from an inhabitant of said home. Because of the high incidence of burglaries, crime scene investigators usually do not collect reference samples from all the residents for economical and administrative reasons. Therefore, the presumably high probability that a DNA profile belonging to a person authorized to be at the crime scene ends up being sent to a DNA database for comparison, has to be taken into account. To our knowledge, no investigation has been made to evaluate the percentage of these non-perpetrator profiles straying into DNA databases. To shed light on this question, we collected reference samples from residents who had been victims of recent burglaries in their private homes. By comparing the profiles established from these reference samples with the profiles generated from trace DNA, we can show that the majority of the DNA samples collected in burglary investigations belong to the residents. Despite the limited number of cases included in the study, presumably due to a crime decline caused by the pandemic, we further show that trace DNA collection in the vicinity of the break and entry area, in particular window and door glasses, is most promising for sampling perpetrator instead of inhabitant DNA.

Single nucleotide polymorphism in Interleukin 1 alpha gene might be involved in the Oral Herpes recurrent episodes in Brazilian Para-Athletes

The main goal of this study was to investigate if there is an association between Oral Herpes (OH) recurrent episodes and Single Nucleotide Polymorphisms (SNPs) in IL1A, IL10, and IL1RN genes in a group of Brazilian Para-athletes. This transversal study was prepared according to the STrengthening the REporting of Genetic Association Studies (STREGA) guidelines. Oral examination and DNA collection for genotyping were performed in a non-probabilistic convenience sampling composed of Brazilian para-athletes who participated in a Brazilian selective competition. Data referring to the general characterization of sample were collected through a self-reported questionnaire. Candidate genes were chosen with the UCSC Genome Browser and SNPs in IL1A gene (rs17561, rs1304037), IL10 gene (rs1800871), and IL1RN gene (rs9005) were selected and investigated in allelic, genotypic, dominant, and recessive models. Hardy-Weinberg equilibrium was evaluated in each SNP. The sample was composed of 273 para-athletes (63 (23.4%) practice swimming, 61 (22.3%) powerlifting and 145 (63.7%) athletics). OH recurrent episodes was related by 47 (17.2%) para-athletes and the presence of T allele in the rs1304037 increased chance of OH. These findings suggest that rs1304037 in IL1A gene is associated with OH recurrent episodes in para-athletes.

Predictors for participation in DNA self-sampling of childhood cancer survivors in Switzerland

Background Research on germline genetic variants relies on enough eligible participants which is difficult to achieve for rare diseases such as childhood cancer. With self-collection kits, participants can contribute genetic samples conveniently from their home. Demographic and clinical factors were identified previously that influenced participation in mailed self-collection. People with pre-existing heritable diagnoses might participate differently in germline DNA collection which might render sampling biased in this group. In this nationwide cross-sectional study, we analysed predictive factors of participation in DNA self-collection including heritable diagnoses. Methods We identified childhood cancer survivors from the Swiss Childhood Cancer Registry for invitation to germline DNA self-sampling in September 2019. Participants received saliva sampling kits by postal mail at their home, were asked to fill them, sign an informed consent, and send them back by mail. Two reminders were sent to non-participants by mail. We compared demographic, clinical, and treatment information of participants with non-participants using univariable and multivariable logistic regression models. Results We invited 928 childhood cancer survivors in Switzerland with a median age of 26.5 years (interquartile range 19-37), of which 463 (50%) participated. After the initial send out of the sampling kit, 291 (63%) had participated, while reminder letters led to 172 additional participants (37%). Foreign nationality (odds ratio [OR] 0.5; 95%-confidence interval [CI] 0.4-0.7), survivors aged 30-39 years at study versus other age groups (OR 0.5; CI 0.4-0.8), and survivors with a known cancer predisposition syndrome (OR 0.5; CI 0.3-1.0) were less likely to participate in germline DNA collection. Survivors with a second primary neoplasm (OR 1.9; CI 1.0-3.8) or those living in a French or Italian speaking region (OR 1.3; CI 1.0-1.8) tended to participate more. Conclusions We showed that half of childhood cancer survivors participated in germline DNA self-sampling relying completely on mailing of sample kits. Written reminders increased the response by about one third. More targeted recruitment strategies may be advocated for people of foreign nationality, aged 30-39 years, and those with cancer predisposition syndromes. Perceptions of genetic research and potential barriers to participation of survivors need to be better understood. Trial registration Biobank: https://directory.bbmri-eric.eu/#/collection/bbmri-eric:ID:CH_HopitauxUniversitairesGeneve:collection:CH_BaHOP Research project: Clinicaltrials.gov: NCT04702321.

Novel epigenetic link between gestational diabetes mellitus and macrosomia

Background & objectives: Examine maternal gestational diabetes mellitus (GDM), macrosomia and DNA methylation in candidate genes IGF1, IGF2, H19, ARHGRF11, MEST, NR3C1, ADIPOQ and RETN. Materials & methods: 1145 Children (572 GDM cases and 573 controls) from The Tianjin GDM study, including 177 with macrosomia, had blood DNA collection at median age 5.9 (range: 3.1–10.0). We used logistic regression to screen for associations with GDM and model macrosomia on 37 CpGs, and performed mediation analysis. Results: One CpG was associated with macrosomia at false discovery rate (FDR) <0.05 (cg14428359 in MEST); two (cg19466922 in MEST and cg26263166 in IGF2) were associated at p < 0.05 but mediated 26 and 13%, respectively. Conclusion: MEST and IGF2 were previously identified for potential involvement in fetal growth and development ( Trial Registration number: NCT01554358 [ClinicalTrials.gov] ).

Investigating the Ethics of DNA Collection by CODIS

America's criminal justice system has experienced controversy for decades and it seems as if the Combined DNA Index System (CODIS), an FBI criminal justice database that stores the DNA profiles of millions of Americans, is a major contributor to it. Due to CODIS, an individual’s DNA is collected and permanently stored upon arrest, resulting in major red flags like privacy violations and marginalization. However, there are potential solutions - although each has its drawbacks - to this problem, in order of increasing efficacy: mandating the DNA collection of all Americans to alleviate biases, adopting a solely fingerprint-based system as forensic evidence, and terminating CODIS entirely.

The Rise of Digital Repression

This book documents the rise of digital repression—how governments are deploying new technologies to counter dissent, maintain political control, and ensure regime survival. The emergence of varied digital technologies is bringing new dimensions to political repression. At its core, the expanding use of digital repression reflects a fairly simple motivation: states are seeking and finding new ways to control, manipulate, surveil, or disrupt real or perceived threats. This book investigates the goals, motivations, and drivers of digital repression. It presents case studies in Thailand, the Philippines, and Ethiopia, highlighting how governments pursue digital strategies based on a range of factors: ongoing levels of repression, leadership, state capacity, and technological development. But a basic political motive—how to preserve and sustain political incumbency—remains a principal explanation for their use. The international community is already seeing glimpses of what the frontiers of repression look like, such as in China, where authorities have brought together mass surveillance, online censorship, DNA collection, and artificial intelligence to enforce their rule in Xinjiang. Many of these trends are going global. This has major implications for democratic governments and civil society activists around the world. The book also presents innovative ideas and strategies for civil society and opposition movements to respond to the digital autocratic wave.

Human DNA collection from police dogs: technique and application

Police dogs are routinely deployed during criminal investigations under a variety of circumstances. In instances where police dogs are involved in apprehension of suspects, contact with a suspect may be observed or may occur out of the line of sight. The interactions between suspect and dog may include the dog biting the suspect, or the suspect touching or exuding bodily fluids onto the dog. In either form of contact, potentially valuable DNA may be left from the suspect on the dog. This paper describes a proof-of-concept study investigating collection of human DNA from the teeth and hair of dogs. It used controlled settings, where the human DNA sources were touch and saliva, and field cases, where the human DNA sources were unknown. The results of sample analysis to identify DNA short tandem repeats (STRs) from each of these scenarios are provided. They highlight the potential and importance of collecting trace DNA from police dogs who may have had contact with suspects during attempted apprehension.

A Novel Triplet-Primed PCR Assay to Detect the Full Range of Trinucleotide CAG Repeats in the Huntingtin Gene (HTT)

The expanded CAG repeat number in HTT gene causes Huntington disease (HD), which is a severe, dominant neurodegenerative illness. The accurate determination of the expanded allele size is crucial to confirm the genetic status in symptomatic and presymptomatic at-risk subjects and avoid genetic polymorphism-related false-negative diagnoses. Precise CAG repeat number determination is critical to discriminate the cutoff between unexpanded and intermediate mutable alleles (IAs, 27–35 CAG) as well as between IAs and pathological, low-penetrance alleles (i.e., 36–39 CAG repeats), and it is also critical to detect large repeat expansions causing pediatric HD variants. We analyzed the HTT-CAG repeat number of 14 DNA reference materials and of a DNA collection of 43 additional samples carrying unexpanded, IAs, low and complete penetrance alleles, including large (>60 repeats) and very large (>100 repeats) expansions using a novel triplet-primed PCR-based assay, the AmplideX PCR/CE HTT Kit. The results demonstrate that the method accurately genotypes both normal and expanded HTT-CAG repeat numbers and reveals previously undisclosed and very large CAG expansions >200 repeats. We also show that this technique can improve genetic test reliability and accuracy by detecting CAG expansions in samples with sequence variations within or adjacent to the repeat tract that cause allele drop-outs or inaccuracies using other PCR methods.

DNA Identification, Joint Rights and Collective Responsibility

DNA identification developed late in the twentieth century and has surpassed fingerprinting as the leading technique for forensic human identification. It differs from the other biometrics discussed in that it is based on principles of biological, rather than physical sciences. Another difference is the time taken to convert a biological sample into a DNA profile; however, this is becoming less significant as technology progresses. DNA is also more accurate and revealing in comparison with other biometrics because it can provide information about a person’s physical appearance and health status, as well as link an individual to, and in association with further investigations, identify, their biological relatives. This chapter examines DNA identification in law enforcement, related developments associated with commercial genomic health and ancestry databases, and the potential impact of population wide DNA collection. The ethical analysis considers privacy and autonomy, self-incrimination, joint rights and collective responsibility.