[Molecular genetics revolutionized forensic medicine].
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Cause of Death↗
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Results for “Forensic Genetics”
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[RFLP: initial experiences in forensic molecular genetics].
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Blood Stains↗
[Forensic hematology genetics--paternity testing].
In Switzerland paternity investigations are carried out using DNA analysis only since 1991. DNA patterns are inherited and only with the exception of genetically identical twins they are different in everyone and therefore unique to an individual. Hence DNA-systems are an excellent tool to resolve paternity disputes. DNA polymorphisms used for paternity diagnosis are length polymorphisms of the highly polymorphic VNTR loci [variable number of tandem repeats]. The most frequently applied systems are the DNA single locus systems. In addition to the DNA single locus systems the application of PCR (PCR = polymerase chain reaction) based DNA systems has increased particularly in difficult deficiency cases or in cases where only small evidential samples or partially degraded DNA are available. Normally four independent DNA single probes are used to produce a DNA profile from the mother, the child and the alleged father. A child inherits half the DNA patterns from its mother and the other half from its true biological father. If an alleged father doesn't possess the paternal specific DNA pattern in his DNA profile he is excluded from the paternity. In case of non-exclusion the probability for paternity is calculated according to Essen-Möller. When applying four highly polymorphic DNA single locus systems the biostatistical evaluation leads always to W-values exceeding 99.8% [= required value for positive proof of paternity]. DNA analysis is currently the best available method to achieve such effective conclusions in paternity investigations.
Blood Group Antigens↗
Forensic applications of genetic polymorphisms detected in human body fluids (urine, semen and blood).
The development of a new genetic marker with forensic usefulness is difficult and costly work, but it is necessary. We discovered several new markers detected in urine, semen and blood. In particular, deoxyribonuclease I-polymorphism is one of the most useful markers for practical purposes, since it has a well-balanced gene frequency, high concentration in body fluids, stability against severe conditions, and easy and accurate detectability.
Blood Chemical Analysis↗
Assessing the influence of different alignment tools on the accuracy of a forensic epigenetic clock.
MOTIVATION: DNA methylation (DNAm) has long been a commonly investigated biomarker in biomedical research. The current gold standard for DNAm detection is bisulfite sequencing which requires dedicated alignment tools that can handle reduced sequence complexity. One commonly used application of DNAm are epigenetic clock measurements. These clocks have been adapted by many fields for their specific needs, including forensic genetics. Here, epigenetic clocks were designed to help estimate the chronological age of a biological stain donor for investigative purposes. RESULTS: In this study, data generated with a well-established forensic epigenetic clock is aligned with four different bisulfite-specific alignment tools: "Bwa-meth," "Abismal," "Bismark," and "BS-Seeker2." For each tool, we tested up to six different settings, altering parameters such as the maximum number of mismatches or the score function setting. The goal was to investigate whether the final predicted ages differed considerably between the tested alignment tools and settings. Quality controls such as read depth, precision, recall, F1 score, and alignment run time were also assessed. To allow other researchers to easily perform such methylation comparison analyses on their own data, a Shiny app called "MethylAge Explorer" was developed within this study. None of the tested settings for the three alignment tools "Abismal," "Bismark," and "BS-Seeker2" outperformed the originally used alignment tool "Bwa-meth" in terms of age prediction accuracy. However, differences in final age predictions were observed between the different alignment tools. Therefore, it is necessary to be aware of which alignment tool to use for particular epigenetic clocks. AVAILABILITY AND IMPLEMENTATION: The data underlying this article and the code for the shiny app are available on GitHub (https://github.com/charlsut/methylage_explorer).
DNA Methylation↗
Analysis of genetic markers in forensic DNA samples using the polymerase chain reaction.
The ability to extract and type DNA from forensic evidentiary samples has revolutionized the field of forensic serology. Previously, genetic marker typing was limited to the analysis of blood group markers and soluble polymorphic protein markers. Because the number of suitable markers expressed in particular fluids and tissues is relatively small, and because mixtures of fluids cannot be separated for conventional genetic marker typing, a suspect frequently cannot be included or excluded as a fluid donor in a case. However, the development of methods to extract DNA from virtually all biological specimens has greatly expanded the potential for individual identification. Of particular importance was the ability to extract mixtures of sperm cells and epithelial cells found in sexual assault cases such that the DNA from the sperm cells could be typed independently of the DNA from the victim's epithelial cells. Restriction fragment length polymorphism (RFLP) analysis was the first DNA-based method applied to problems of individual identification. This method, while powerful in its ability to differentiate individuals, is limited by the quantity and quality of DNA required for an unambiguous result and by the amount of time it takes to obtain a result. Despite these limitations, several laboratories are using RFLP analysis successfully for the detection of polymorphisms in forensic DNA case samples. While the field of forensic serology was being revolutionized by the prospect of DNA analysis, the field of molecular biology was being revolutionized by the invention of the polymerase chain reaction (PCR), which ultimately has had an impact on every area of biological science. The PCR DNA amplification technology is ideally suited for the analysis of forensic DNA samples in that it is sensitive and rapid and not as limited by the quality of DNA as the RFLP method. The focus of this article is the use of the PCR for typing genetic markers, and we will address specifically the special considerations that arise from applying DNA amplification and typing technology to forensic materials.
DNA↗
[The need of regulation of production of components for forensic-medical molecular-genetic technologies and improvement of legal basis of forensic-medical molecular-genetic expert examinations in the Russian Federation].
Of late, Ministry of Health of Russian Federation has developed instructions concerning forensic-medical molecular genetic methods of analysis promoting creation of standardized forensic-medical genetic service. However, some legal uncertainty exists in respect to design and production of the materials for forensic-medical molecular-genetic technologies, unification and standardization of molecular-genetic kits and methods. It is thought necessary to regulate legally forensic medical molecular-genetic technologies from foreign countries and production and use of domestic components for forensic medical molecular-genetic expert examinations.
Cytogenetic Analysis↗
Private detection of relatives in forensic genomics using homomorphic encryption.
BACKGROUND: Forensic analysis heavily relies on DNA analysis techniques, notably autosomal Single Nucleotide Polymorphisms (SNPs), to expedite the identification of unknown suspects through genomic database searches. However, the uniqueness of an individual's genome sequence designates it as Personal Identifiable Information (PII), subjecting it to stringent privacy regulations that can impede data access and analysis, as well as restrict the parties allowed to handle the data. Homomorphic Encryption (HE) emerges as a promising solution, enabling the execution of complex functions on encrypted data without the need for decryption. HE not only permits the processing of PII as soon as it is collected and encrypted, such as at a crime scene, but also expands the potential for data processing by multiple entities and artificial intelligence services. METHODS: This study introduces HE-based privacy-preserving methods for SNP DNA analysis, offering a means to compute kinship scores for a set of genome queries while meticulously preserving data privacy. We present three distinct approaches, including one unsupervised and two supervised methods, all of which demonstrated exceptional performance in the iDASH 2023 Track 1 competition. RESULTS: Our HE-based methods can rapidly predict 400 kinship scores from an encrypted database containing 2000 entries within seconds, capitalizing on advanced technologies like Intel AVX vector extensions, Intel HEXL, and Microsoft SEAL HE libraries. Crucially, all three methods achieve remarkable accuracy levels (ranging from 96% to 100%), as evaluated by the auROC score metric, while maintaining robust 128-bit security. These findings underscore the transformative potential of HE in both safeguarding genomic data privacy and streamlining precise DNA analysis. CONCLUSIONS: Results demonstrate that HE-based solutions can be computationally practical to protect genomic privacy during screening of candidate matches for further genealogy analysis in Forensic Genetic Genealogy (FGG).
Humans↗
[Polymorphic analysis of two Y chromosome short tandem repeat loci in Chinese Chengdu Han population].
OBJECTIVE: To reveal the distribution of genetic polymorphism of two novel Y chromosome short tandem repeat (Y-STR) loci (DYS508, DYS516) in Chinese Chengdu Han population. METHODS: Two Y-STR loci were amplified with PCR. The products of PCR were analyzed with polyacrylamide gel electrophoresis. Each allele of these 2 Y-STR loci was sequenced and the allele ladders were constructed. Alleles of these Y-STR loci were nominated according to recommendations of the International Society of Forensic Genetics (ISFG). RESULTS: Six and 6 alleles were observed in loci DYS508 and DYS516 respectively. The gene diversity of DYS508 and DYS516 was 0.7242 and 0.7931 respectively. The diversity of haplotype for these Y-STR loci was 0.9397. The value of discrimination power and the exclusion chance of paternity for these Y-STR loci were same as the value of haplotype diversity. CONCLUSION: Both Y-STR loci are high genetic polymorphic. They are beneficial to the test of male-female mixtures and paternity identification in forensic science.
Asian People↗
[Population study of HLA DQA1, LDLR, GYPA, HBGG, D7S8, and GC loci in Caucasians living in the Ural region of Russia].
Allele frequencies have been determined for 6 tested locuses. The distribution of HLA DQA1 gene and locuses of Polymarker kit (Perkin Elmer, USA) for population studies conformed to the Hardy-Weinberg equilibrium (HWE). Inequilibrium for linkage for all possible locus pairs was tested by an accurate test. No statistically significant inequilibrium was detected. Paired comparison of allele frequencies of tested locuses of the Ural population with other Caucasoid populations showed homogeneity for GYPA, HBGG, D7S8, and HLA DQA1 locuses. Significant differences for 1 and 2 of the 4 compared pairs were detected for LDLR and GC locuses, respectively. The total discrimination potential for 6 tested locuses was 0.9995. Our population study showed that high informative value of the tested genetic markers and conformity to HWE make them a useful tool for forensic genetic studies in the Ural Caucasoid population. Preliminary assessment of the efficiency of PCR of 6 studied locuses by capillary electrophoresis is highly effective in typing of DNA samples isolated from material evidences with negligible content of biological material with presumably high degree of degradation and for evaluating the positive and negative amplification controls.
Forensic Medicine↗
Genetic Identification of Burned Human Remains: A Systematic Review.
Background/Objectives: DNA-based identification of degraded human remains represents a major challenge in forensic science, particularly in cases involving burned, fragmented, or commingled bodies. Advances in forensic genetics have expanded the analytical capabilities for such samples; however, the effectiveness of different approaches and their integration within Disaster Victim Identification (DVI) workflows remain heterogeneous. This systematic review aims to critically evaluate current evidence on DNA-based identification of degraded remains, focusing on methodological strategies, emerging genomic technologies, and DVI applications, while integrating laboratory evidence and operational forensic practice into a structured analytical framework. Methods: A systematic literature search was conducted in Scopus and Web of Science from database inception to 5 June 2026, following PRISMA 2020 guidelines. Eligible studies included original research addressing DNA analysis of degraded, thermally altered, or highly compromised human remains in forensic or DVI contexts. After a multistep screening process involving title/abstract and full-text evaluation, 37 studies were included. Data were extracted and organized into three thematic categories: (i) core DNA analysis, (ii) advanced molecular technologies, and (iii) DVI case applications. Results: The findings demonstrate that DNA recovery from degraded remains is influenced by thermal exposure, tissue type, and sampling strategy. Teeth and dense cortical bone consistently provide higher DNA yield. While autosomal STR profiling remains the primary analytical approach, its limitations in highly degraded samples are mitigated through the complementary use of mitochondrial DNA (mtDNA), Y-chromosome STRs (Y-STRs), and SNP markers, together with advanced sequencing technologies such as massively parallel sequencing (MPS). Emerging technologies, including rapid DNA systems and predictive models based on macroscopic indicators, significantly enhance efficiency and success rates. DVI studies report identification rates exceeding 90-95% when multidisciplinary and structured workflows are applied. The evidence further supports a flexible triage-based analytical strategy, in which marker selection is guided by tissue preservation and degradation level. Conclusions: DNA-based identification of degraded human remains has evolved into an adaptive, multi-level forensic process. Successful outcomes rely on the integration of optimized sampling, hierarchical genetic analysis, and coordinated DVI strategies. The findings support a triage-based framework that links tissue selection, degradation assessment, and analytical methodology to maximize identification success. Future developments should focus on predictive models, advanced genomic tools, and standardized workflows to further improve identification in challenging forensic scenarios.
Humans↗
[Experience in using hair as the object of study in forensic medical molecular genetic expertise].
It is possible to overcome the difficulties in expert evaluation of hairs by using molecular genetic methods of analysis at the level of DNA. We assessed the possibility of using hair for forensic genetic identification of relation and personality identification. The efficacy of using just individual hairs in analysis has been demonstrated. The stability of results was evaluated and the possible artefacts caused by low content of DNA and its possible degradation detected and corrected.
Alleles↗
The 2000-2001 GEP-ISFG Collaborative Exercise on mtDNA: assessing the cause of unsuccessful mtDNA PCR amplification of hair shaft samples.
We report the results of Spanish and Portuguese working group (GEP) of International Society of Forensic Genetics (ISFG) Collaborative Exercise 2001-2002 on mitochondrial DNA (mtDNA) analysis. 64 laboratories from Spain, Portugal and several Latin-American countries participated in this quality control exercise. Five samples were sent to the participating laboratories, four blood stains (M1-M4) and a sample (M5) consisting of two hair shaft fragments. M4 was non-human (Felis catus) in origin; therefore, the capacity of the labs to identify the biological source of this sample was an integral part of the exercise. Some labs detected the non-human origin of M4 by carrying out immuno-diffussion techniques using antihuman serum, whereas others identified the specific animal origin by testing the sample against a set of animal antibodies or by means of the analysis of mtDNA regions (Cyt-b, 12S, and 16S genes). The results of the other three human blood stains (M1-M3) improved in relation to the last Collaborative Exercises but those related to hairs yielded a low rate of success which clearly contrasts with previous results. As a consequence of this, some labs performed additional analysis showing that the origin of this low efficiency was not the presence of inhibitors, but the low quantity of DNA present in these specific hair samples and the degradation. As a general conclusion the results emphasize the need of external proficiency testing as part of the accreditation procedure for the labs performing mtDNA analysis in forensic casework.
Accreditation↗
Forensic inference from genetic markers.
This review provides an overview of forensic inference from genetic markers. Because the judge and jurors are charged with decision-making, the forensic expert's job is to provide a useful summary of the evidence to the court. Hence, this review focuses on the likelihood ratio as a means of summarizing the genetic data for either criminal or civil cases. The properties of the genetic markers frequently used in today's court cases, those being VNTR loci, are discussed in detail. Unlike traditional markers, the data from VNTR loci are complicated because current molecular methods generate data that follow a finite mixture distribution. Critical ancillary issues are also covered, though not in detail.
Bayes Theorem↗
[Genetic polymorphisms of human short tandem repeat vWA].
We researched the genetic polymorphisms of vWA in Henan population and its usefulness in forensic science.DNA extracted from non-relative persons in Henan population with Chelex was amplified by polymerase chain reaction and was typed by nondenaturing polyacrylamide gel electrophoresis silver staining.A total of 8 alleles and 19 genotypes were found in Henan population,its heterozygosity is high and the locus can be used in forensic genetics. We obtained the allelic frequency of the locus vWA in Henan population. The results of amniotic fluid,villus,blood stain indicate vWA is a good locus for forensic study.
English Abstract↗
Evaluation of gastrointestinal cancer tissues as a source of genetic information for forensic investigations by using STRs.
Malignant tissue samples may sometimes be the only source of biological material for forensic investigations, including identification of individuals or paternity testing. However, in use of such samples, uncertainties due to microsatellite instability (MSI) and loss of heterozygosity (LOH) often associated with neoplasias may be encountered. In this study, we have analysed the applicability of autosomal tetranucleotide short tandem repeat (STR) markers, which are routinely used in forensic analysis, to gain genetic information. MSI and LOH were analysed in 41 surgically removed gastrointestinal cancer specimens and the adjascent non-cancerous tissue marginals. The cancer specimens showed great variability in their genetic phenotypes due to MSI or LOH, with only 32% being microsatellite-stable. Of the 15 autosomal STR loci analysed, only TH01 had no MSI-type alteration in these samples. The loci most frequently affected by MSI were D8S1179, D21S11, D18S51 and D19S433 (MSI in 15-17% of cases). LOH-type alterations were observed at all of the loci, including the amelogenin locus used for sex determination. The highest LOH frequency was found at locus D18S51 (27%). The genetic alterations at the marker loci may indicate false homozygosity or heterozygosity, and false gender may result from erroneous deduction of DNA profiles. Therefore, typing of autosomal STRs from malignant tissues in forensic settings warrants careful interpretation of MSI and LOH results together with microscopic analysis of a tissue specimen. Results by two commercially available and widely used forensic DNA profiling kits used here were comparable.
Aged↗
[Genetic polymorphisms of eight STR loci in a Chinese Han population].
OBJECTIVE: To understand the allele structure and genetic polymorphism at eight STR loci in Chinese Han population and construct a preliminary database. METHODS: EDTA-blood specimens were collected from the unrelated individuals in Chengdu, China. The DNA samples were extracted with Chelex method and were amplified by PCR technique. The PCR products were analyzed by the PAG horizontal electrophoresis with discontinuous buffer system and by the approach of the automated fluorescence detection. RESULTS: Five STR loci consist of simple repeat motifs, while three STR loci contain complex repeat structures. The STR polymorphisms at all of the eight loci have been observed in Chinese Han population. According to the obtained data, the combined exclusion probability and the combined discrimination power for these STR markers in Chinese population are 0.9978 and 0.999 999 992, respectively. CONCLUSION: The obtained data are beneficial to understanding the population genetics of the eight STR loci in Chinese Han population. For forensic genetics, the obtained data can be used to calculate the probabilities dealing with the paternity test and the individual identification.
China↗
The misapplication of genetic analysis in forensic science.
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Electrophoresis↗