Forensic Parameters Research Articles

Morphological Characteristics of the Incisive Papilla in Pediatric Forensic Odontology: A Cross-Sectional Study

Objectives Objectives: Forensic odontology plays a critical role in identification of individuals through dental evidence. The study aims to evaluate the prevalence and morphological characteristics of incisive papilla among children aged 3-6 years and assess its potential as a reliable tool for racial identification. Material and Methods A cross-sectional study was conducted involving 462 pediatric subjects recruited from Sathyabama Dental College and Hospital. Participants were assessed for incisive papilla morphology using Ortman and Tsao’s classification. Results The study sample comprised 262 males (56.7%) and 199 females (43.3%). The most common shape of the incisive papilla was pear (51.5%), followed by rectangular (34.1%). No statistically significant differences in papilla shape were observed between genders (p = 0.103). Conclusion The findings indicate that the pear shape is the predominant morphology of the incisive papilla in the Chennai population, and its shape can serve as a reliable forensic parameter for identification in dentulous individuals without surgical alterations. Further research is warranted to enhance understanding of its applicability in forensic odontology.

Choice between DNA primer sets (A or B) of the ForenSeq kit: forensic evaluation in a Mexican admixed population sample.

Massively parallel sequencing (MPS) overcomes many PCR-CE limitations to analyze STRs and allow simultaneous inclusion of SNPs in forensic cases. By MPS, the ForenSeq™ DNA Signature Prep kit analyzes 27 aSTRs, 7 X-STRs, 24Y-STRs, and 94 identity-informative SNPs (iiSNPs) with the DNA Primer Set-A (DPS-A). Optionally, the DNA Primer Set-B (DPS-B) adds to the analysis 56 ancestry-informative SNPs (aiSNPs) and 24 phenotype-informative SNPs (piSNPs), but diminishes from 96 to 32 the number of samples per sequencing run. We assessed the forensic informativity provided by the loci analyzed by these two DPS in admixed individuals from Mexico City (Center, Mexico). For STRs, we report length-based (LB) and sequence-based (SB) allele frequencies and forensic parameters of the 152 identity informative markers (DPS-A). For aSTRs, the combined PD of SB genotypes (PD ~ 100%) was ~ 2949 times larger than that from LB. Conversely, the observed phenotype distribution offered low PD levels (PD = 6.6% and 10.4%), whereas piSNPs predicted accurately only the modal brown eye and dark hair colors, respectively. Similarly, aiSNPs detected a large prevalence of admixed individuals (97.3%; PD = 5.4%). Although few individuals were inferred as Europeans and Native Americans (1.37% each), they were self-declared as admixed, which result confusing for HID purposes. In brief, SB genotypes increased significantly the informativity of STRs to solve complex cases (DPS-A), whereas aiSNPs and piSNPs added mostly irrelevant information (DPS-B). We provide useful cost-benefit criteria in one Latin American population to choose DPS-A (96 samples) instead of DPS-B (32 samples) of the Forenseq kit.

Population dynamics and genetic isolation in the Central Himalayan region: insights from Sikkim population, India.

India's rich diversity encompasses individuals from varied geographical, cultural, and ethnic backgrounds. In the field of population genetics, comprehending the genetic diversity across distinct populations plays a crucial role. This study presents significant findings from genetic data obtained from the Sikkimese population of India. Autosomal markers were crucial for evaluating forensic parameters, with a combined paternity index of 1 × 109. Notably, Penta E emerged as a distinguishing marker for individual identification in the Sikkim population. Fst genetic distance values revealed insights into genetic isolation among different groups, enhancing our understanding of population dynamics in the central Himalayan region. The NJ-based phylogenetic tree highlighted close genetic relationships, of the Sikkim population with the Nepalese population surrounding neighbouring Himalayan populations providing glimpses into common ancestry. In summary, this study contributes valuable data to population genetics and underscores the importance of genetic variation in comprehending population dynamics and forensic applications.

Genetic Polymorphisms of 22 Novel Autosomal Short Tandem Repeat Loci in Sierra Leone Population

Abstract Background: Exploring and identifying novel alleles of noncombined DNA Index System (CODIS) short tandem repeat (STR) loci in different ethnic groups is important for the establishment of forensic reference databases and study of population genetics. Aim: This study is aimed to explore the genetic polymorphism of 22 non-CODIS autosomal STR loci (D6S477, D18S535, D19S253, D15S659, D11S2368, D20S470, D1S1656, D22-GATA198B05, D8S1132, D4S2366, D21S1270, D13S325, D9S925, D3S3045, D14S608, D10S1435, D12S391, D7S3048, D17S1290, D5S2500, D2S1338, and D16S539) in Sierra Leone population and analyze the population genetic relationships in comparison with other populations. Materials and Methods: The samples of a total of 495 unrelated individuals (274 females and 221 males) from Sierra Leone were examined by the Microreader™ 23SP ID System, and their genetic polymorphisms and associated forensic parameters were calculated. The genetic relationships between Sierra Leone population and other populations were evaluated as well. Results: A total of 287 alleles were observed with allelic frequencies ranging from 0.001 to 0.399. The cumulative power of discrimination (CPD) of the 22 autosomal STR loci was 0.999999999999999 99999999999999538. The cumulative probability of exclusion (CPE) of the 22 autosomal STR loci was 0.9999998514 (CPEdous) and 0.999999 9999826 (CPEtrios). All of the STR loci reached the Hardy–Weinberg equilibrium after Bonferroni correction. The population genetics analysis results demonstrated that Sierra Leone population exhibited distinctive genetic characteristics compared to those of East Asian populations and it had relatively close genetic distances to the Uygur population. Conclusion: The results of this study could enrich the forensic databases with Sierra Leone population. The 22 STR loci are highly polymorphic and could be used for forensic practice and population genetics studies.

Genetic Diversity Based on the Analysis of 27 Y- Short Tandem Repetition (STR) Loci in Two Populations in the Apuseni Mountains, Romania.

Y chromosome analysis is used in various fields of forensic genetics, genetic genealogy, and evolutionary research, due to its unique characteristics. Short tandem repetitions (STR) are particularly relevant in population genetic studies. The aimof this study is to analyze the genetic profile of two populations in the Apuseni Mountains area, Băița and Roșia Montană, Romania. 27 STR loci of the Y chromosome were analyzed to investigate the genetic profile of two populations from the Apuseni Mountains area. Investigating genetic diversity by analyzing allele frequency, haplotype frequency, calculating forensic parameters, and presenting the main haplogroups identified based on Y-STR markers. Gene diversity in the batch from Băița varies from 0.515 for the DYS393 locus to 0.947 for the DYS385 locus. In the Roșia Montană population, gene diversity ranges from 0.432 for DYS393 to 0.931 for DYS385. The haplotype diversity in Roșia Montană was 0.991, and the haplotype diversity was 1.000 in the population from Băița. A total of nine haplogroups was identified in the batch from Băița, while only seven haplogroups were observed in the batch from Roșia Montană. Both groups are based on the same five major haplogroups (E, G, I, J, and R) and the most common haplogroup is R1b in both populations. In this study, the genetic diversity of two distinct populations was assessed using genetic analyses based on different markers. Analysis of Y-STR profiles revealed significant genetic diversity in both studied groups. All haplogroups identified were similar to those present in other Romanian populations.

Genetic Polymorphisms and Forensic Parameters of Thirteen X-Chromosome Markers in the Iraqi Kurdish Population.

X-chromosome short tandem repeat (X-STR) tools are crucial in forensic genetics and human population fields. This study presents the development and validation of a multiplex STR system consisting of thirteen X-STR loci and amelogenin specific to the human X chromosome. The system was optimized and tested for species specificity, sensitivity, stability, and DNA mixture using 9947A female and 9948 male control genomic DNA. The amplified products of nine loci were sequenced to determine the correct amplicon length. Allele frequencies, forensic parameters, mean exclusion chance (MEC), linkage disequilibrium (LD), and allelic patterns were investigated using DNA samples from 225 (159 male, 66 female) unrelated Kurdish individuals who live in Sulaymaniyah province in the Kurdistan region of Iraq. The most informative locus in the Kurdish population was GATA172D05, while the least informative locus was DXS10164. The results demonstrated that the 13 X-STR system is highly polymorphic and sensitive for forensic DNA identification. Genetic distance-based clustering, metric multidimensional scaling (MDS), and correlation matrix were analyzed for 19 ethnic groups and populations. The phylogenetic tree showed that populations clustered according to their ethnogeographic relationships. The findings revealed genetic links between the Iraqi Kurds, Caucasians, Iraqi Arabs, United States (U.S.) ethnic groups, and Chinese populations.

Exploring the genetic landscape of the Doukkala population (Morocco) using 15 autosomal short tandem repeats (STRs)

Introduction/ObjectivesSituated in West Central Morocco, the Doukkala region carries the distinction of being one of North Africa's oldest human settlement zones. Nonetheless, it has been notably understudied in the realm of population genetics. Through allele frequency analysis and integration of forensic parameters, the research aims to gain insights into the genetic structure and neighboring affiliations of the Doukkala population. MethodsThis study employed the AmpFlSTR Identifiler PCR system to assess the allelic frequencies and forensic parameters of 15 autosomal STRs in a cohort of 134 unrelated, healthy individuals from the Doukkala region who identify as Arab-speakers. Additionally, we explored the genetic relationships between the Doukkala population and other reference groups, considering both our dataset and previously published population data. ResultsA total of 180 alleles were observed in the study population. With a count of 19 alleles, D18S51 proved to be the most diverse marker in the study. After Bonferroni's correction, 3 loci (FGA, TH01, and TPOX) deviated from Hardy–Weinberg equilibrium. The combined power of discrimination (PD) was 0.99999999999999999526 and the combined probability of exclusion (PE) was 0.99999664790900144592. The Arabic-speaking population of Rabat-Salé–Zemmour-Zaer and Southern population from Morocco exhibit the shortest genetic distance from population of Doukkala. No significant difference was observed between the Arabic-speaking population of Doukkala and all North African populations at all loci, except for the Egyptian population (North-East Africa), where a difference was observed at 2 specific loci (CSF1PO and TH01). ConclusionsThese results indicate that the diversity found in populations from North Africa transcends geographic and linguistic barriers. The dataset's relevance to this research could stem from its capacity to offer valuable reference data for forensic, anthropological, and genetic investigations.

Performance and characterization of 94 identity-informative SNPs in Northern Han Chinese using ForenSeq ™ DNA signature prep kit

Target and flanking region (FR) variation at 94 identity-informative SNPs (iSNPs) are investigated in 635 Northern Han Chinese using the ForenSeq DNA Signature Prep Kit on the MiSeq FGx Forensic Genomics System. The dataset presents the following performance characteristics (average values): ≥60% bases with a quality score of 20 or higher (%≥ Q20); >700 × of depth of coverage (DoC) from both Sample Details Reports and Flanking Region Reports; >80% of effective reads; ≥60% of allele coverage ratio (ACR); and ≥70% of inter-locus balance, while some stable low-performance characteristics are also observed: low DoC at rs1736442, rs1031825, rs7041158, rs338882, rs2920816, rs1493232, rs719366, and rs2342747; high noise at rs891700; and imbalanced ACR at rs6955448 and rs338882. The average amplicon length is 69 bp, suitable for detecting degraded samples. Bioinformatic concordance achieves 99.99% between the ForenSeq Universal Analysis Software (UAS) and the Integrative Genomic Viewer (IGV) inspection. Discordance results from flanking region deletions of rs10776839, rs8078417, rs2831700, and rs1454361. Due to FR variants within amplicons detected by massively parallel sequencing (MPS), the increases in the number of unique alleles, effective alleles (Ae), and observed heterozygosity (Hobs) are 46.81%, 4.51%, and 3.29%, respectively. Twelve FR variants are first reported to dbSNP, such as rs1252699848, rs1665500714, rs1771121532, rs2097285015, rs1851671415, rs2045669877, rs2046758811, rs2044248635, rs1251308240, rs1968822112, rs1981638299, and rs1341756746. All 94 iSNPs from target and amplicon data are in Hardy-Weinberg equilibrium (HWE) and independent within autosomes. As expected, forensic parameters from the amplicon data increase significantly on the combined power of discrimination (CPD = 1 – 3.9876 × 10−38) and the combined power of exclusion (CPE = 1 – 6.6690 × 10−8). Additionally, the power of the system effectiveness (CPD = 1 − 6.7054 × 10−72 and CPE = 1 − 4.4719 × 10−20) with sequence-based 27 autosomal STRs and 94 iSNP amplicons in combination is substantially improved compared to one type of marker alone. In conclusion, we have established a traditional length-based and current sequence-based reference database with 58 STRs and 94 iSNPs in the Northern Han Chinese population. We hope these data can serve as a solid reference and foundation for forensic practice.

Retraction: Corrigendum: The heart of silk road "Xinjiang", its genetic portray, and forensic parameters inferred from autosomal STRs.

[This retracts the article DOI: 10.3389/fgene.2022.1030952.].

Retraction: The heart of silk road "Xinjiang," its genetic portray, and forensic parameters inferred from autosomal STRs.

[This retracts the article DOI: 10.3389/fgene.2021.760760.].

A novel 193-plex MPS panel integrating STRs and SNPs highlights the application value of forensic genetics in individual identification and paternity testing.

Massively parallel sequencing (MPS) has emerged as a promising technology for targeting multiple genetic loci simultaneously in forensic genetics. Here, a novel 193-plex panel was designed to target 28 A-STRs, 41 Y-STRs, 21 X-STRs, 3 sex-identified loci, and 100 A-SNPs by employing a single-end 400bp sequencing strategy on the MGISEQ-2000™ platform. In the present study, a series of validations and sequencing of 1642 population samples were performed to evaluate the overall performance of the MPS-based panel and its practicality in forensic application according to the SWGDAM guidelines. In general, the 193-plex markers in our panel showed good performance in terms of species specificity, stability, and repeatability. Compared to commercial kits, this panel achieved 100% concordance for standard gDNA and 99.87% concordance for 14,560 population genotypes. Moreover, this panel detected 100% of the loci from 0.5ng of DNA template and all unique alleles at a 1:4 DNA mixture ratio (0.2ng minor contributor), and the applicability of the proposed approach for tracing and degrading DNA was further supported by case samples. In addition, several forensic parameters of STRs and SNPs were calculated in a population study. High CPE and CPD values greater than 0.9999999 were clearly demonstrated and these results could be useful references for the application of this panel in individual identification and paternity testing. Overall, this 193-plex MPS panel has been shown to be a reliable, repeatable, robust, inexpensive, and powerful tool sufficient for forensic practice.

Population genetic analyses of Eastern Chinese Han nationality using ForenSeq™ DNA Signature Prep Kit.

Currently, the most commonly used method for human identification and kinship analysis in forensic genetics is the detection of length polymorphism in short tandem repeats (STRs) using polymerase chain reaction (PCR) and capillary electrophoresis (CE). However, numerous studies have shown that considerable sequence variations exist in the repeat and flanking regions of the STR loci, which cannot be identified by CE detection. Comparatively, massively parallel sequencing (MPS) technology can capture these sequence differences, thereby enhancing the identification capability of certain STRs. In this study, we used the ForenSeq™ DNA Signature Prep Kit to sequence 58 STRs and 94 individual identification SNPs (iiSNPs) in a sample of 220 unrelated individuals from the Eastern Chinese Han population. Our aim is to obtain MPS-based STR and SNP data, providing further evidence for the study of population genetics and forensic applications. The results showed that the MPS method, utilizing sequence information, identified a total of 486 alleles on autosomal STRs (A-STRs), 97 alleles on X-chromosome STRs (X-STRs), and 218 alleles on Y-chromosome STRs (Y-STRs). Compared with length polymorphism, we observed an increase of 260 alleles (157, 31, and 72 alleles on A-STRs, X-STRs, and Y-STRs, respectively) across 36 STRs. The most substantial increments were observed in DYF387S1 and DYS389II, with increases of 287.5% and 250%, respectively. The most increment in the number of alleles was found at DYF387S1 and DYS389II (287.5% and 250%, respectively). The length-based (LB) and sequence-based (SB) combined random match probability (RMP) of 27 A-STRs were 6.05E-31 and 1.53E-34, respectively. Furthermore, other forensic parameters such as total discrimination power (TDP), cumulative probability of exclusion of trios (CPEtrio), and duos (CPEduo) were significantly improved when using the SB data, and informative data were obtained for the 94 iiSNPs. Collectively, these findings highlight the advantages of MPS technology in forensic genetics, and the Eastern Chinese Han genetic data generated in this study could be used as a valuable reference for future research in this field.

Forensic parameters and population analysis of 21 autosomal STR loci in the Wuhu Han population from Anhui Province, East China

Background At present, there are no available genetic data on the AGCU EX22 Kit from the Wuhu Han population. Aim This study investigates the applicability of the AGCU EX22 kit, designed for the Chinese population for forensic analysis and population genetics of the Wuhu Han population. Subjects and methods Bloodstains from 1565 unrelated healthy individuals in Wuhu city, Anhui Province, were collected for analysis. The AGCU EX22 kit was used for amplification, and capillary electrophoresis was used to separate the amplification products. Allele frequencies and forensic parameters were determined. The Wuhu Han population was compared to 10 reference populations through genetic distance, a phylogenetic neighbor-joining tree and principal component analysis. Results In total, 281 alleles and 1187 genotypes were observed. No significant deviations from Hardy-Weinberg equilibrium at any locus were found after Bonferroni’s correction. The 21 autosomal short tandem repeat (STR) genetic markers exhibited high informativeness and polymorphism. The cumulative power of discrimination and power of exclusion were 0.999999999999999999999999913380 and 0.999999996752339, respectively. Population comparisons revealed a genetic affinity between Wuhu Han and southern Han populations, except for the Guangdong Han population, which aligned with the traditional geographical division in China. Conclusion The AGCU EX22 Kit, containing 21 STR loci, is suitable for forensic application and population genetics studies in the Wuhu Han population.

Estimation of stature from foot dimensions: A comparative study between Hausas and Yorubas in Bayero University, Kano, Nigeria

Anthropometry is the measurement of variables such as foot height, length and width of human body. The current study was conducted to estimate stature from foot dimensions among Hausas and Yorubas of Faculty of Basic Medical Science in Bayero University, Kano. The objectives were to obtain height and foot dimensions; determine sexual dimorphism, correlation and to estimate stature. The materials used were stadiometer and a digital vernier caliper. Sampling was done randomly. The sample size was 400 subjects (200 Hausas and 200 Yorubas). Statistical significance was deemed acceptable at p<0.05. It was observed that all the variables have significant sexual dimorphism. Among the Hausas, all the variables correlated strongly with each other except for BMI and all foot dimensions. There was a weak negative correlation that is statistically significant between BMI and height. Among the Yorubas, weight, height and BMI correlated strongly with one another, and also all foot dimensions correlated strongly with weight and height except LFB and weight where there was a weak positive correlation that is statistically significant. There was a weak positive correlation that is statistically significant between RFB and BMI while LFB and BMI correlate strongly with each other. Both foot lengths do not correlate with BMI. A significant relationship was found between the selected forensic parameters and the foot dimensions among Hausas and Yorubas of Faculty of Basic Medical Science in Bayero University, Kano.

Analysis of data and common mutations encountered during routine parentage testing in Zimbabwe

We analyzed parentage data collected over a ten-year period in a Zimbabwean DNA testing laboratory. Parentage case types, prevalence, exclusion data, mutations rates and observed genotyping irregularities were analyzed. We report analysis results from 1303 cases. DNA extraction and STR typing was conducted using standard commercial kits. Paternity was the most requested test (87.37%) followed by the indirect biological kinship tests (7.01%). Duo paternity (motherless) was the most common paternity test for both regular and court cases. We observed 367 paternity exclusions from 1135 cases, giving an overall paternity exclusion rate of 32.33%. Maternity had the lowest exclusion rate (8.33%), with criminal cases having the highest paternity (61.11%) and maternity (33.33%) exclusion rates. The number of mismatched STR loci ranged from 2–12 for duo cases and 4–18 for the trio cases. FGA, D2S1338, D18S51 and D2S441 were the most informative markers for exclusion. We detected 30 mutations out of 837 cases with an estimated paternal and maternal mutation rate of 0.0021 and 0.0011 respectively. Triallelic patterns were only observed at the TPOX locus with allele 10 and 11 being the extra alleles transmitted. Our report provides forensic parameters which can improve parentage and forensic analysis in Zimbabwe.

Application of a 24-SNP Multiplex Genotyping Assay System for Phenotypic Identification of Fujian Han Population.

This study aimed to evaluate the utility of 24 single nucleotide polymorphism (SNP) loci associated with iris color and hair color in phenotypic identification of the Han Chinese population in Fujian Province. The selected SNPs, known for their strong correlation with specific human phenotypic features, provide valuable reference data for developing a molecular phenotypic identification system. A multiplex genotyping assay system was established with primers for the 24 SNPs linked to iris color and hair color synthesized based on existing literature. In total, 235 unrelated individuals of Han Chinese ethnicity in Fujian Province were included in this study. PowerStats v12 was employed to calculate forensic parameters associated with the 24 SNP loci, including gene frequencies, genotype frequencies, minor allele frequencies, discrimination power (DP), polymorphism information content (PIC), and observed heterozygosity (Ho). Hardy-Weinberg equilibrium tests were conducted for each locus. The SNP genotyping results were uploaded to the HIrisPlex model (https://HIrisPlex.erasmusmc.nl/) to predict iris and hair colors, and the inferred results were compared with manually assessed images. The accuracy of pigment phenotype inference was evaluated by using ROC curves in SPSS 26.0 software. The accuracy rates of inferring brown iris and black hair phenotypes were 99.6% and 99.5%. The area under the curve (AUC) values were 0.923 and 0.980, respectively. The 24 SNP loci demonstrated high accuracy in inferring iris color and hair color; it seems to be a useful tool for forensic phenotypic identification and anthropological or evolutionary applications. Establishment of suitable pigment classification criteria and optimized prediction models is based on revealing more phenotypic genetic markers.

Revealing Y-STR Diversity of Koli Populations (Gujarat) by Studying 23 Y-STR Loci

Genetic analysis of Y-STR loci is pivotal for forensic libraries and genetic analysis. The Koli population in Gujarat, India, however, lacks such genetic characterization. This study aims to develop an allele frequency database for 23 Y-STR loci in the Koli population, examining forensic parameters and assessing genetic connections with neighboring tribes. A total of 153 unrelated Koli males were genotyped using the PowerPlex®Y23 multiplex commercial kit. We identified 117 distinct haplotypes. The Haplotype Diversity (HD) and Discrimination Capacity (DC) for the 23 Y-STR loci were 0.993 and 0.8034, respectively. DYS385b locus exhibited the highest allele variability (10 alleles), whereas DYS391, DYS389I, and DYS437 showed the least (4 alleles each). The highest Polymorphic Information Content (PIC) was observed in DYS385b (0.775), with the lowest in DYS391 (0.386). The dominant haplogroup R1a accounted for 45% of the population. Comparative analysis with other Indian populations from YHRD revealed two distinct clusters, placing the Koli population in cluster 2, indicating significant genetic similarity within this group. This inaugural study of Y-STRs in the Koli population demonstrates the utility of the Y23 kit in male identification, highlighted by substantial haplotype diversity and discrimination capacity.

Systematical explorations of forensic feature and population genetic diversity of the Chinese Mongolian group from northwest China via a self-constructed Multi-InDel panel.

This study aimed to investigate the genetic polymorphisms and population characteristics of Chinese Mongolian group from northwest China (NCM) through a self-developed panel including 43 autosomal insertion/deletion (A-InDel) polymorphism genetic markers. Herein, 288 unrelated healthy individuals from the NCM group were employed to obtain the genetic data of 43 A-InDels through multiplex PCR amplification and InDel genotyping using capillary electrophoresis platform. In addition, multiplex population genetic analyses were performed between the NCM group and 27 reference populations. There were no deviations at 43 loci from Hardy-Weinberg equilibrium in the NCM group. The observed heterozygosity (Ho) values ranged from 0.312 8 to 0.559 2, and the combined power of discrimination (CPD) and cumulative probability of exclusion (CPE) values in the NCM group were 0.999 999 999 999 999 998 77 and 0.999 814, respectively. The forensic parameter values indicated that this panel was polymorphic and informative in the NCM group and could be used as an effective tool for forensic personal identification. Furthermore, the results of pairwise genetic distances, principal component analysis, multidimensional scaling analysis, phylogenetic tree construction, and admixture analysis among the NCM group and 27 reference populations revealed that there were closer genetic relationships between the NCM group and East Asian populations, especially Chinese Hui group (CHH) from the northwest China, which is consistent with the geographical location. These present findings contributed to the ongoing genetic explorations and insights into the genetic architecture of the NCM group.

Genetic diversity and forensic parameters of autosomal STR markers included Investigator® HDplex panel in the general population of the Russian Federation

Modern STR multiplexes used for parentage and kinship testing typically contain 20–30 informative loci. However, in certain cases, additional markers are necessary to address uncertainties and inconclusive cases. The Investigator® HDplex multiplex includes loci that are often utilized as supplementary markers and are not part of the standard STR identification systems. In our study, we examined a total of 558 unrelated individuals from 76 geographically distinct localities across all eight Federal Districts of the Russian Federation. We present key forensic parameters and allele frequencies obtained from this analysis. We evaluated the intra-population genetic diversity among the Federal District populations and compared the general population of the Russian Federation with populations from various regions around the world. SE33 exhibited the highest level of polymorphism, with 48 detected alleles, while D4S2366 and D6S474 displayed the fewest alleles (7). Heterozygosity values across all loci ranged from 0.7616 for D4S2366 to 0.9337 for SE33. We did not observe any significant deviation from the Hardy-Weinberg Equilibrium for the loci studied. The maximum FST value between the Russian sub-populations was 0.003. Comparison of the general population of the Russian Federation with populations from Europe, Asia, Africa, and South America, largely supported the historical relationship between the studied population and their respective biogeography.

Sequenced-based Rwanda population provides insights into demographic history.

Rwanda is known as the heart of Africa, reflecting the history of the world. Colonization and genocide have led to Rwanda's existing genetic structure. Herein, we used massively parallel sequencing to analyze 296 loci in 185 Rwandans and constructed a database for Rwandan forensic data for the first time. We found the following results: First, forensic parameters demonstrated that all loci were highly informative and could be used for forensic identification and paternity tests in Rwandans. Second, we found that the differences in genetic background between Rwandans and other African populations were similar but slight, as indicated by the massively parallel sequencing panel. Rwandans belonged to the African population and were inseparable from populations from neighboring countries. Also, Rwandans were closer to the European and American populations because of colonization, war, and other reasons. There was no scientific basis for racial classification established by colonization. Further research still needs to be carried out on more loci and larger Rwandan samples.