Forensic DNA Technological Advancements as an Emerging Perspective on Medico-Legal Autopsy: A Mini Review

The importance of biological traces and evidences related to a criminal matter has been recognized for a long time. The examination of the expression of genetic polymorphism has been an integral part of the multidisciplinary field of medico-legal autopsy for over a century. Since the initial application of blood group antigens for personalization of a putative perpetrator in a murder case, the discipline of forensic genetics has evolved as a standard of forensic sciences. The real breakthrough, the application of molecular tools and processes for the in-vitro replication of genetic substances, has increasingly allowed the exploitation of advances of molecular genetics for both forensic and criminal investigations. Although there are certainly many more applications and scientific fields in the medico-legal arena, the relatively fast progress of genetics, which has accelerated recently with state-of-art technologies, can provide ever more relevant information in relation to a corpse or the cause and manner that resulted in the corpse for autopsy. This topic concerns the currently accepted forensic DNA technology, and the last section reviews commonly used markers for nuclear and mitochondrial DNA analysis as well as ongoing research. This review also focuses on the increasingly important non-human sources of DNA, and shortly covers the main aspects of animal forensic DNA examination

Most Common Medico-Legal Autopsy-Related Human and Nonhuman Biological Samples for DNA Analysis

The identification and individualization of biological evidences is crucial to actual criminal investigations. In spite of the differences at the national level, all the legal processes attribute particular importance to forensic DNA analysis. However, none of the qualified results from any professional laboratory can produce substantive, valuable evidence with insufficient quality of samples and/or problems with provision of a pristine and controlled environment. The methodology and efficiency of sampling are distinct in case of living persons and in medico-legal autopsy and crime scenes. This chapter is a short overview from the basic introductory information up to ongoing research, and in accordance with constraints on the chapter size, it briefly discusses the important topics of sample collection at medico-legal autopsy for DNA analysis. The content sorts the major types of samples, reviews the common methods of sampling and the potential risk of poor sampling or contamination transfer. The corpses can be more or less degraded, which in special cases (e.g., paraffin embedded tissues, drowned, burning and/or buried cadaver) allow only for analysis of highly degraded samples. The samples can be associated with tissues of a corpse (e.g., blood, soft tissues, bone, tooth, hair) and/or additional extraneous tissues and remains, which are often mixed (e.g., blood, saliva, semen, vaginal fluid, debris of fingernails) on the corpse

Testing of Microsatellite Markers for Individual Identification of Fallow Deer

The fallow deer (Dama dama) of Hungary has excellent value to our country due to its game meat and antler trophies. As an attempt to aid law enforcement against illegal activities, such as poaching, illegal trading, and in other cases like traffic accidents, we aimed to develop a genetic marker set suitable for individual identification. During our research, 28 microsatellite markers on 15 fallow deer samples from two different populations were tested. Four microsatellites were found to be polymorphic, each with two or three alleles. Based on our current results, Hungarian fallow deer populations show low genetic diversity. This is in agreement with previous studies conducted on the species and is probably a direct result of the species’ past extinction from the most of Europe during the Pleistocene and later its human-mediated reintroduction to most of its current range. The low number of polymorphic markers presents the need to include additional markers

A vadvilági bűnözés sajátos kriminalisztikai kihívásai Magyarországon = Special Challenges of Wildlife Forensics in Hungary

A klímaváltozás és a biodiverzitás csökkenése, valamint az emberi beavatkozás közötti ok-okozati összefüggés megkérdőjelezhetetlen. Ez a tény indokolja, hogy a vadvilágot sújtó illegális cselekmények ellen hatékonyan kell fellépni. A vadvilági bűnözés Magyarországot is érinti, ugyanakkor a cselekmények felderítése, bizonyítása és az elkövetők felelősségre vonása kívánni valót hagy maga után. A tanulmányban azt vizsgáljuk, hogy a vadvilági bűnözéssel szembeni harcban milyen szerepe lehet a kriminalisztikának. Cél: A vadvilágot érintő bűncselekmények jellemzőinek bemutatása, a vadvilági kriminalisztika jellemzőinek felvázolása. Módszertan: A tanulmány elkészítéséhez a hatályos nemzetközi és nemzeti jogi normákat, szakmai szabályokat tekintettük át. Feldolgoztuk továbbá a téma releváns nemzetközi és hazai szakirodalmát. Megállapítások: A modern civilizáció egyik legfontosabb és legégetőbb feladata a környezetünk – benne elsődleges fontossággal az élővilág – megóvása és védelme. Ebben a folyamatban szerepe van annak is, hogy a vadvilágot ért illegális cselekményeket a büntető hatalom felderítse, megbüntesse, és a további kriminális magatartásokat megelőzze. Hazánkban a vadvilági bűncselekmények elkövetőinek büntetőjogi felelősségre vonását elsősorban a speciális szakismerettel rendelkező bűnügyi technikusok hiánya, a hiányzó speciális szakmai protokollok, a jogalkalmazók hiányos biológiai ismeretei, a forenzikus nem emberi genetikai laboratóriumok nem megfelelő finanszírozása, a forenzikus standardoknak megfelelő nem emberi (genetikai) adatbankok hiánya akadályozza. Érték: A szerzők Magyarországon elsőként vázolják fel a vadvilági bűnözés kriminalisztikájának alapvető jellemzőit

Nuclear Factor κB–dependent Gene Expression Profiling of Hodgkin's Disease Tumor Cells, Pathogenetic Significance, and Link to Constitutive Signal Transducer and Activator of Transcription 5a Activity

Constitutive nuclear nuclear factor (NF)-κB activity is observed in a variety of hematopoietic and solid tumors. Given the distinctive role of constitutive NF-κB for Hodgkin and Reed-Sternberg (HRS) cell viability, we performed molecular profiling in two Hodgkin's disease (HD) cell lines to identify NF-κB target genes. We recognized 45 genes whose expression in both cell lines was regulated by NF-κB. The NF-κB–dependent gene profile comprises chemokines, cytokines, receptors, apoptotic regulators, intracellular signaling molecules, and transcription factors, the majority of which maintain a marker-like expression in HRS cells. Remarkably, we found 17 novel NF-κB target genes. Using chromatin immunoprecipitation we demonstrate that NF-κB is recruited directly to the promoters of several target genes, including signal transducer and activator of transcription (STAT)5a, interleukin-13, and CC chemokine receptor 7. Intriguingly, NF-κB positively regulates STAT5a expression and signaling pathways in HRS cells, and promotes its persistent activation. In fact, STAT5a overexpression was found in most tumor cells of tested patients with classical HD, indicating a critical role for HD. The gene profile underscores a central role of NF-κB in the pathogenesis of HD and potentially of other tumors with constitutive NF-κB activation

Genetika és bűnüldözés – Az igazságügyi célú DNS-vizsgálatok első negyedszázada Magyarországon I.

DNA profiling has become one of the most important and significant tools of criminal investigation. By proper use critical and decisive information can be provided about a perpetrator. Usage of DNA test results for forensic purposes began the 1990’s in Hungary. The aim of this study is to provide an overview of this eventful period. Due to its extent the paper is published in two parts. This first part presents the most important cases and the development of the technology.A kriminalisztikai célú DNS-vizsgálat mára a bűnüldözés egyik legfontosabb eszköze lett. Szakszerű alkalmazásával fontos információkat szolgáltathat a bűncselekmény elkövetőjéről. Hazánkban az 1990-es években kezdődött meg a forenzikus DNS-vizsgálat. A közlemény célja ennek az eseménydús időszaknak a bemutatása. A tanulmány terjedelmi okokból két részben jelenik meg. Az első rész a legfontosabb ügyeket, a technológiai fejlődést mutatja be

Maternal Diversity of the Yellow-Faced Sheep of Kecskemét based on the mtDNA Control Region

Regarding the Yellow-faced sheep of Kecskemét or Sand-sheep, known as a variant of Yellow-faced Berke sheep, very little research has been undertaken to date and the small population, which is mainly found in the southern region of Hungary, is at risk of extinction. In this study blood samples from Yellow-faced sheep of Kecskemét were selected for Control Region (CR) sequencing and subsequent analysis. These were compared with CR data available from GenBank resources and other indigenous Hungarian breeds in order to compare and contrast the differences and similarities between these. A total of 40 individuals from 2 flocks in the South of Hungary were sampled in 2020. Investigations were performed based on the total number of sites (1174 bps) of the CR. It was revealed that the relative genetic diversity within the Yellow-faced sheep of Kecskemét (haplotype and nucleotide diversity 0.950 and 0.01635, respectively), in comparison to other indigenous breeds, albeit from a limited population, cannot be deemed a narrow genetic pool. The values of the Tajima D test, Fu’s Fs statistic, Fu & Li’s D*- and F* tests were found to be non-significant (in each case P > 0.10). Statistical evaluation does not indicate a lack of alleles. This study demonstrated three haplogroups within the Yellow-faced sheep of Kecskemét population – A, B and C. Haplogroup B was the most prevalent, which is typical for European sheep breeds, given an understanding about their arrival into Europe from the Near East. This is comparative to other Hungarian breeds, such as the Cikta and Polled Racka, and also similar to the native breeds of neighbouring countries. Regarding Haplogroup A, which was found to a minor frequency, being lower than that found in the Cikta or Polled Racka, but to a greater extent than Tsigai. To date, haplogroup C, which is typically demonstrated in sheep from Central Asia, had only been discovered in one native Hungarian breed: the Cikta, however its presence was also discovered in the Sand-sheep. The examination of the haplogroups seems to confirm the fact that the sheep came to Hungary not only from Asia Minor, but also from the interior of Asia in the past, and the mitochondrial genetic information of these latter animals maintained in some representatives of today's breeds, surviving the effects of crossbreeding and selection

Merle allele variations in the Mudi dog breed and their effects on phenotypes

A retrotransposon insertion in the SILV gene is associated with a peculiar phenotype of dog, known as a merle. It is characterised by various areas of their coat colour becoming diluted due to a malfunction in the eumelanin-producing pigment cells. Recent studies have shown that the exact size of the short interspersed element (SINE) insertion is in correlation with specific phenotypic attributes, but was not able to absolutely confine dogs to a certain colour pattern. Our study focused on the merle variations occurring in the Mudi breed. Altogether, 123 dog samples from 11 countries were tested and genotyped. The exact length of the merle alleles were determined by automated fluorescent capillary fragment analysis. The most frequent merle genotype in this Mudi sample collection was the ‘classic’ merle (m/M: 61.8%), whereas other variants, such as atypical (m/Ma and m/Ma+: 5.7%), harlequin (m/Mh: 13.8%), double merle (M/M: 0.8%) and mosaic profiles (17.9%) were also observed. The practical significance of testing this mutation is that, phenotypically, not only merle dogs are carriers of this insertion, but also the so-called hidden merle individuals (where the merle phenotype is fully covered by the pheomelanin-dominated colouration) are potentially capable of producing unintentionally homozygous ‘double merle’ progeny with ophthalmologic, viability and auditory impairments