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PubMed1979

[The detection of gamma globulin and Inv-factors in semen and saliva and of haptoglobins in semen (author's transl)].

Gm- 1-, 2-, and Inv 1-factors can be demonstrated in semen and saliva. For the examination of traces it is necessary to verify the suitable dilutions for the different charges of antisera and to test the eluates of the samples if they have a sufficient concentration. We observed some incorrect negative results in seminal and saliva stains which were apparently caused by insufficient material. The demonstration was independent of the secretor type. Haptoglobin could not be determined in semen and saliva.

Forensic Medicine↗
PubMed1977

Blood group determinations in forensic dentistry.

The identification of A, B, and H substances is a useful tool in forensic examinations. At the present time fresh blood or blood stains are used most extensively for blood group detection in forensic cases. Various body fluids from secretors also contain A, B, and H substances, and recent techniques have increased the reliability of the determination of blood group substances present. Soft and hard tissues also contain blood group substances, but at the present time these are not used routinely in forensic examinations. However, adaption of the more sensitive assays may increase the utilization of these tissues. Of particular value would be the development of simpler methods for blood group substances in teeth, since teeth are more resistant to putrefication than most other substances.

ABO Blood-Group System↗
PubMedDate not supplied

Frequencies of salivary genetic marker systems in the Japanese population and their application to forensic medicine.

Seven salivary polymorphic systems were studied using whole and parotid saliva from random Japanese individuals. The gene frequencies obtained were: Pa+ = 0.212, Pb1 = 1.000, Pb2 = 0, Pr1 = 0.763, Pr2 = 0.237, Db+ = 0.051, Pm+ = 0.409, Ph+ = 0.026 and Amy1v = 0.013, respectively. Based on these gene frequencies, the chances for exclusion of falsely alleged fathers were calculated. The chance of exclusion on the basis of five salivary polymorphic systems was 0.305. The combined chance of exclusion utilizing only blood, serum and red-cell enzyme polymorphic systems among the Japanese population was 0.919; however, by applying salivary polymorphic systems to the calculation, the total exclusion rose to 0.944.

Black People↗
PubMed2026

Evaluation of bone preparation approaches using length-based analysis and targeted sequencing for forensic human identification of historic skeletal remains.

Advances in DNA technology have significantly enhanced the forensic community's ability to develop genetic profiles from unidentified human skeletal remains. However, sampling requires mechanical grinding of hard tissues before DNA isolation. This processing can compromise genetic profiles, particularly in aged bones. We compared the industry-standard pulverization method with an alternative powder-free preparation involving prolonged demineralization and subsequent slicing of 19th-century cortical bone. Data from DNA quantification, STR genotyping, and targeted SNP sequencing were used to evaluate powdered samples versus demineralized slices from paired human bones. Average human DNA yields for pulverized samples and demineralized slices were 0.032&#x2009;ng and 0.692&#x2009;ng, respectively. Demineralized slices recovered more amplifiable DNA than traditional homogenization methods (p&#x2009;<&#x2009;0.05). No pulverized samples produced STR profiles, whereas demineralized slices from the same bone samples yielded partial profiles. Samples underwent DNA repair, library preparation, and hybridization capture using the FORensic Capture Enrichment (FORCE) panel. Applying low-coverage (1X) analysis of high-throughput sequencing (HTS) data, demineralized slices outperformed those prepared by traditional pulverization methods (p&#x2009;<&#x2009;0.05) and substantially increased the information recovered compared with conventional STR analysis methods. Based on HTS data from pulverized samples, DNA fragment length ranged from 27 to 95&#x2009;bp, and FORCE SNP recovery was 33.23%. In contrast, for demineralized slices, DNA fragment length ranged from 85 to 114&#x2009;bp, and FORCE SNP recovery was 83.24%. The required reagents and equipment are typically available in forensic labs, and the workflow outlined herein significantly increases the success of DNA recovery from challenging skeletal samples.

Humans↗
PubMed1978

[About the polymorphisms of esterase D and glyoxalase I and their forensic application (author's transl)].

Phenotypes of esterase D and glyoxalase I were determined electrophoretically in samples from Northern Germany. Gene frequencies: EsD1 = 0,889 (n = 1430), GLO1 = 0,415 (n = 865). The data of 295 (EsD) and 153 (GLO) mother/child combinations were in full accordance with the genetic model of two codominant alleles at an autosomal locus. Esterase D typing has proved successful in bloodstains up to three weeks old. The forensic scope of serological systems is discussed intensively. According to our own data and the results presented in the literature esterase D and glyoxalase I have proved to be useful additional markers for use in cases of disputed paternity.

Blood Group Antigens↗
PubMed1977

The phosphoglucomutase group system of human erythrocytes.

Frequency of PGM1 phenotypes and their corresponding genes in the Polish population was determined in two samples: in 760 adults and 240 children. The frequency of the PGM1 1 gene in adults was 0-748, and in children 0-765. A statistically significant deficiency of heterozygotes was found in adults. Heredity of the phosphoglucomutase system was studied in 52 families with 162 children, in 223 mother-child pairs, and in 73 twin pairs of the same sex. In all groups, phenotypes of PGM1 agreed with the hypothesis of heredity, assuming a pair of alleles of the PGM1 system. In the parent combinations PGM1 1-1 X PGM1 2-1 a deficiency of PGM1 2-1 children was found. Analysis of linkage of genes of the PGM1 system with eight group systems provided data indicating a possibility of linkage of the PGM1 system with the Rh system. The theoretical usefulness of the PGM1 system in paternity investigations in the Polish population was estimated to be 14-24%.

Adult↗
PubMed2025

clusIBD: Robust Detection of Identity-by-descent Segments Using Unphased Genetic Data from Poor-quality Samples.

The detection of identity-by-descent (IBD) segments is widely used to infer relatedness in many fields, including forensics and ancient DNA analysis. However, existing methods are often ineffective for poor-quality DNA samples. Here, we propose a method, clusIBD, which can robustly detect IBD segments using unphased genetic data with a high rate of genotyping error. We evaluated and compared the performance of clusIBD with that of IBIS, TRUFFLE, and IBDseq using simulated data, artificial poor-quality materials, and ancient DNA samples. The results show that clusIBD outperforms these existing tools and could be used for kinship inference in fields such as ancient DNA analysis and criminal investigation. clusIBD is publicly available at GitHub (https://github.com/Ryan620/clusIBD/) and BioCode (https://ngdc.cncb.ac.cn/biocode/tool/BT007882).

Humans↗
PubMed2026

Quo vadis, BGA? A collaborative EDNAP exercise on the challenges and progress in forensic biogeographical ancestry inference.

There is a broad consensus that forensic tests for the prediction of externally visible characteristics (EVC) and analysis of biogeographic ancestry (BGA) of an individual are technically reliable. However, interpretation of the results and population-specific genotype distribution patterns remains challenging. EVC and BGA analyses provide valuable information for population genetics studies and as investigative leads for criminal cases, as well as for historical and contemporary identification tests. However, inaccurate or incorrect predictions, for example, from subjective bias in the interpretations made, have the potential to misdirect police investigations. The legal situation regarding EVC and BGA testing varies by country: ranging from countries where it is explicitly prohibited, to those without specific regulations on biogeographic ancestry prediction, and others that have already enacted laws governing its use. The reluctance to utilize these analyses is not only due to legal restrictions and data protection concerns, but also to initial limited sets of sufficiently comprehensive forensic DNA assays. Forensic BGA marker panels typically contain up to &#x223c;300 SNPs. This relatively small number of genetic markers, along with limited reference population data, complicates the interpretation of results from donors of unknown origin. This paper presents the results of a collaborative EDNAP study, which, for the first time, evaluated the approach to reporting EVC and BGA data between international laboratories. For the study, DNA from nine individuals with self-reported ancestry was collected and analysed using various forensic panels differing in the number and composition of ancestry-informative markers genotyped, comprising: the Precision ID mtDNA Whole Genome Panel, the VISAGE Basic Tool and the VISAGE Enhanced Tool for Appearance and Ancestry Prediction, and the Ion AmpliSeq&#x2122; PhenoTrivium Panel. To ensure full data protection, all SNP genotypes and uniparental marker haplotypes obtained were not shared with third parties. Instead, the genetic data were analysed using a range of commonly used population analysis software packages. These analysis outcomes were then distributed to twelve European forensic laboratories (both academic and law enforcement institutions), who were asked to prepare reports based on their interpretation of the phenotypes and ancestry they inferred from the analysis data. A questionnaire sent alongside the genetic information, aimed to evaluate which difficulties were encountered by the participants in processing the BGA analysis data they were given.

Humans↗
PubMed1979

Further alleles of phosphoglucomutase in human semen detected by isoelectric focusing.

A technique for identifying further alleles of PGM1 in human semen detected by isoelectric focusing has been described. A survey of 100 semen samples has shown that there was close agreement between the observed and expected gene frequencies of these new alleles on the basis that there were four common alleles determined by the PGM1 locus and not two as originally proposed [1,2]. The use of these new genetic variatns of PGM will considerably enhance the investigation of semen stains in forensic science.

Alleles↗
PubMed1979

[The detection of inherited enzyme polymorphism in semen (author's transl)].

Our investigation of the occurrence of the enzymes phosphoglucomutase (PGM), glutamate-pyruvate-transaminase (GPT), adenylatkinase (AK), adenosine-desaminase (ADA), and 6-phophogluconate-dehydrogenase (6-PGD) produced the following results: The phosphoglucomutase type was demonstrated in the most sperm samples and seminal stains in accordance with the corresponding blood type. This enzyme is rather stable and could still be demonstrated well in 1-month old stains. The glutamate-pyruvate-transaminase can only seldom be determined in semen and seminal stains. We only found the GPT 1 type, which is known to have usually the strongest activity. The adenylatekinase was demonstrable in the most fresh ejaculates (not older than 24 h) and in about half the seminal stains (not older than 7 days)--The AK--2-band gets weak with increasing lay days, which may lead to incorrect determinations. The adenosine-desaminase could not be determined in sperm. On the contrary, 6-phosphogluconate-dehydrogenase could be demonstrated in fresh semen samples and also partly in seminal stains up to 7 days. The demonstration of the enzymes did not depend in any system on the secretor type.

Adenosine Deaminase↗