Explore the vast range of titles available.

Rapidly mutating Y-STRs (RM Y-STRs) have significant application value in differentiating both related and unrelated males. In this study, 26 RM Y-STRs from 367 father–son pairs revealed a total of 224 repeat mutations across all the markers and pairs. The average mutation rate per marker was 18.2 × 10 − 3 , ranging from < 2.7 × 10 − 3 for DYS1007 and DYS626 to 46.7 × 10 − 3 for DYS712. The mutation rates of DYS1007, DYS626, DYF403S1b, DYS518, DYS570, and DYS449 were lower than 10 − 2 . We integrated previously published RM Y-STR data from both Chinese and international populations. The locus mutation rate ranged from 4.5 × 10 − 3 for DYS1007 to 54.5 × 10 − 3 for DYF399S1 in the combined Chinese Han population and from 10.0 × 10 − 3 for DYF403S1b to 73.6 × 10 − 3 for DYF399S1 in the combined international population. Notably, the mutation rates of DYS1007, DYF399S1, DYS570, DYS612, and DYS526b were significantly lower in the combined Chinese Han population than in the combined international population. For male relatives separated by 1 to 4 meioses, the differentiation rates based on these 26 RM Y-STRs were 36.5%, 55.9%, 74.2%, and 79.2%, respectively. Yfiler Plus shows differentiation rates of 16.1%, 26.6%, 45.2%, and 60.4%, respectively. The Y41SE-v1.2 differentiation rates (30 Y-STRs) were 13.4%, 21.3%, 35.5%, and 35.8%, respectively. Overall, the differentiation rates using all 56 Y-STRs were 44.7%, 64.9%, 87.1%, and 92.5%, respectively. For unrelated males, the haplotype discrimination capacity of 26 RM Y-STRs was 100%, the capacity of Yfiler Plus was 99.7%, and the capacity of Y41SE-v1.2 (30 Y-STRs) was 98.6%. Overall, this study provides empirical evidence supporting the ability of 26 RM Y-STRs to differentiate both unrelated males and male relatives in the Chinese Han population.

In this case report, we present the results of a complex kinship investigation involving six individuals, whose biological samples were submitted over an extended period with unclear and shifting instructions. Initially, the goal appeared to be a general reconstruction of familial relationships, yet the underlying motive remained unclear. As the genetic analyses progressed, new individuals were added, and the focus gradually shifted toward a concealed paternity issue. To clarify the familial connections among the tested individuals, we applied a combination of autosomal, X and Y-chromosomal Short Tandem Repeat (STR) markers, coupled with robust statistical methods. DNA was extracted from various personal items, and STR profiles were generated using validated forensic kits and software. Initial autosomal STR analysis primarily revealed familial relationships among three female and one male individual. The subsequent inclusion of two additional individuals not only supported the initial findings but also revealed a previously concealed paternity relationship between two of the subjects. Further analysis using X and Y-STR markers verified the autosomal STR analysis results, thereby supporting the previously established familial relationships. Despite issues like poor DNA quality in certain samples and insufficient contextual data provided, the genetic data allowed for high-confidence resolution of multiple kinship ties, including the confirmation of full- and half-sibling relationships, maternal links, and paternity. This case underscores the efficacy of molecular-genetic tools in revealing concealed familial structures and resolving disputed paternity within complex forensic contexts. •Autosomal STRs offer a reliable basis for assessment of various types of kinship.•Combined autosomal, X-, and Y-STR analyses provide complementary evidence that improves kinship resolution.•Comprehensive molecular and statistical approaches ensure reliable conclusions despite poor and limited input information.

Tandem repeat genetic profiles used in forensic applications varies between populations. Despite the diversity and security issues in the Sahel that require the identification of victims (soldiers and civilians), Burkina Faso (BF) remains understudied. To fill this information gap, 396 unrelated individuals from BF were genotyped using a MICROREADER 21 ID System kit. All 20 short tandem repeat (STR) loci tested passed the Hardy–Weinberg equilibrium (HWE) test. The combined powers of exclusion for duos (CPE duos) and trios (CPE trios) for the 20 tested loci were 0.9999998 and 0.9999307, respectively. The probability that two individuals would share the same DNA profiles among the BF population was 9.80898 × 10 –26 . For the X-chromosome STR analysis, 292 individuals were included in this study using a MICROREADER 19X Direct ID System kit. Among the 19 loci, no significant deviations from HWE test were observed in female samples after Bonferroni correction (p < 0.05/19 = 0.0026), except for loci GATA165B12 and DXS7423. The results showed that the combined power of exclusion (CPE) and the combined power of discrimination in females (CPDF) and males (CPDM) were 0.999999760893, 0.999999999992, and 1, respectively. Comparison with other African sub-populations showed that geographical proximity is a reliable indicator of genetic relatedness.

Mutation analysis of 42 Y chromosomal short tandem repeats (Y-STRs) loci was performed using a sample of 1160 father–son pairs from the Chinese Han population in Eastern China. The results showed that the average mutation rate across the 42 Y-STR loci was 0.0041 (95% CI 0.0036–0.0047) per locus per generation. The locus-specific mutation rates varied from 0.000 to 0.0190. No mutation was found at DYS388, DYS437, DYS448, DYS531, and GATA_H4. DYS627, DYS570, DYS576, and DYS449 could be classified as rapidly mutating Y-STRs, with mutation rates higher than 1.0 × 10−2. DYS458, DYS630, and DYS518 were moderately mutating Y-STRs, with mutation rates ranging from 8 × 10−3 to 1 × 10−2. Although the characteristics of the Y-STR mutations were consistent with those in previous studies, mutation rate differences between our data and previous published data were found at some rapidly mutating Y-STRs. The single-copy loci located on the short arm of the Y chromosome (Yp) showed relatively higher mutation rates more frequently than the multi-copy loci. These results will not only extend the data for Y-STR mutations but also be important for kinship analysis, paternal lineage identification, and family relationship reconstruction in forensic Y-STR analysis.

Abstract Background and Aims Although the classification of secondary tricuspid regurgitation (STR) by atrial or ventricular aetiology (A-STR or V-STR) carries prognostic importance, the confounding effects of New York Heart Association (NYHA) class have not yet been elucidated. We aimed to correlate STR and NYHA classification with patient outcomes. Methods We studied 281 patients with severe STR who presented to 16 French hospitals between 2017 and 2019. Patients were separated into A-STR and V-STR categories using echocardiographic criteria (A-STR = tricuspid tenting height ≤10 mm, right mid-ventricular diameter ≤38 mm, and LVEF ≥ 50%). We tracked time to cardiovascular disease-related hospitalization or death, whichever came first. Results Of the patients 91/281 (32.7%) had A-STR, 164/281 (58.4%) had mixed/V-STR, and 25/281 (8.9%) could not be classified. Baseline age, labs, comorbidities and NYHA category (Class I–II = mildly symptomatic, Class III–IV = very symptomatic) did not differ between groups (P > 0.05). Although there were no differences in event-free survival among groups (70.7% vs. 65.9%, P = 0.59), this was confounded by NYHA class (P = 0.0104). Thus, among mildly symptomatic patients, estimated 5 year event-free survival was 76.4% in the A-STR group and 53.2% in the mixed/V-STR group (P < 0.05). Among very symptomatic patients, there was no difference in estimated event-free survival (39.4% vs. 17.2%, P > 0.05). Conclusions Though A-STR carries a more favourable prognosis in mildly symptomatic patients, this distinction is irrelevant in patients with advanced disease. Thus, the value of tricuspid valve intervention may become ‘too little, too late’ if A-STR is not promptly addressed. Atrial TR as more favourable prognosis except in advanced patients.

Animal forensic genetics, where the focus is on non-human species, is broadly divided in two: domestic species and wildlife. When traces of a domestic species are relevant to a forensic investigation the question of species identification is less important, as the material comes from either a dog or a cat for instance, but more relevant may be the identification of the actual pet. Identification of a specific animal draws on similar methods to those used in human identification by using microsatellite markers. The use of cat short tandem repeats to link a cat hair to a particular cat paved the way for similar identification of dogs. Wildlife forensic science is becoming accepted as a recognised discipline. There is growing acceptance that the illegal trade in wildlife is having devasting effects on the numbers of iconic species. Loci on the mitochondrial genome are used to identify the most likely species present. Sequencing the whole locus may not be needed if specific bases can be targeted. There can be benefits of increased sensitivity using mitochondrial loci for species testing, but occasionally there is an issue if hybrids are present. The use of massively parallel DNA sequencing has a role in the identification of the ingredients of traditional medicines where studies found protected species to be present, and a potential role in future species assignments. Non-human animal forensic testing can play a key role in investigations provided that it is performed to the same standards as all other DNA profiling processes.

Old postcards with stamps might help unravelling historical family stories and relationships. By employing ancient DNA recovered from world war I postage stamps, we disprove a family saga of an illegitimate child born in 1887. We developed a protocol to collect DNA from saliva, trapped and protected on the backside of postage stamps glued on postcards. With replicate STR analyses we were able to assemble almost full autosomal and Y-STR profiles of three male, deceased family members. The illegitimate child turned out to be a legitimate child of a later married couple. •With help of molecular genetics we disclosed a secret and rewrote a family saga.•We successfully analyzed ancient DNA recovered from world war I postage stamps.•We developed a protocol to collect DNA from saliva trapped under postage stamps.•Almost complete autosomal and Y-STR profiles could be recovered.

Short tandem repeats (STRs) or microsatellites are short, tandemly repeated DNA sequences that involve a repetitive unit of 1–6 bp. DNA isolation and purification from a large number and often compromised samples gives problems to forensic labs for STR typing. Many of the conventional methods used in the isolation and purification of DNA from forensic samples are time consuming, expensive, hazardous for health and are often associated with greater risks of cross contamination. FTA® technology is a method designed to simplify the collection, shipment, archiving and purification of nucleic acid from a wide variety of biological samples. We report a new method for the direct STR amplification which can amplify STR loci from human foetal tissues spotted on FTA cards, bye-passing the need of DNA purification. The STR loci amplified by this method was compared with conventional method of STR profiling and was found absolutely matching. Therefore, this new method is demonstrated to be very useful for fast, less expensive and non- hazardous forensic DNA analysis. •A rapid, economically feasible and reliable method for the isolation and purification of DNA from forensic samples are very essential.•FTA® technology is designed to simplify the collection, shipment, archiving and purification of DNA from a wide variety of biological samples.•The efficacy of FTA cards for DNA extraction from human foetal tissues were evaluated.•It is possible to extract DNA from human foetal tissues using FTA cards in a simple, easier and cheaper way.

Eritrea is a multi-ethnic country of over 3 million of people consisting of different ethnic groups, having each its own language and cultural tradition. Due to the lack of population genetic data for markers of forensic interest, in this study, we analyzed the genetic polymorphisms of 23 Y-chromosome STR loci and of 12 X-chromosome STR loci in a sample of 255 unrelated individuals from 8 Eritrean ethnic groups, with the aim to generate a reference haplotype database for anthropological and forensic applications. X- and Y-chromosomes markers may indeed offer information especially in personal identification and kinship testing, when relying on the availability of large local population data to derive sufficiently accurate frequency estimates. The population genetic analyses in the Eritrean sample for both the two set of Y- and X-STR markers showed high power of discrimination both at country-based and population levels. Comparison population results highlight the importance of considering the ethnic composition within the analyzed country and the necessity of increasing available data especially when referring to heterogeneous populations such as the African ones.

Under the initiative of the “Direcció General de Memòria democràtica-Departament de Justícia” (Generalitat of Catalonia, Spain), a multi-disciplinar project was funded to identify the remains of people disappeared in Catalonia during and after the Spanish Civil War (1936–1939). Samples were officially sent by Autonomous Government of Catalonia to the Laboratory of Forensic and Population Genetics at Complutense University, Madrid, Spain, to be genotyped. Our study presents a database of 343 victims genotyped for STRs comprised in GlobalFiler™ PCR Amplification Kit (Thermofisher Scientific) and a subset of 292 typed with Y-STRs from Yfiler™ Plus PCR Amplification Kit (Thermofisher Scientific). Complete profiles amounted to 116 (33.81%) and 89 (30.48%) for autosomal and Y-STRs respectively. Allelic/haplotype frequencies, forensic parameters and HW equilibrium were calculated with STRAF software. Drop-out frequencies were also calculated for each locus. All the markers were in HW equilibrium ( p  > 0.05). Allelic drop-out frequencies were larger in the case of CSF1PO (1.5340E-01) and TPOX (1.2640E-01), probably due to extremely low DNA preservation combined with a less efficient PCR for these loci, among other causes. The comparison of our autosomal database with a set of modern European populations from STRidER database (ENFSI) reveals that the present study sample clusters with other West European samples. This is also the case for Y-STR when our study is compared with European and North African samples. Our results seem to suggest that modern Spanish forensic databases can be used to identify deceased persons during the Spanish Civil War and later, from their living descendants.