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1.
Qual Health Res ; : 10497323241254256, 2024 Aug 07.
Artículo en Inglés | MEDLINE | ID: mdl-39110001

RESUMEN

Research on the lived experiences of HIV survivors, including young people living with HIV, has primarily emphasized broader sociocultural concerns, such as stigmatization and cultural attitudes toward sexuality and gender, while giving less attention to the interconnectedness of these issues with the mental well-being of those affected by the illness. This study, drawing on relational ethnography including observations and interviews at four antiretroviral-administering healthcare facilities in Enugu State, southeast Nigeria, explores how young people living with HIV strive toward viral suppression and how they develop collaborative psychosocial support along with the global efforts in eradicating the HIV epidemic. We found that, in and between themselves, young people living with HIV weave for themselves a network of relationships, though discreetly, to foster and encourage survivorship. Such relatedness, where mutual trust and support have emerged and rebuilt HIV survivors' faith in a livable life, forms what we conceptualize as "sero-kinship." That is, sero-kinship, which focuses on how people create and change meanings in their everyday lives that ultimately contribute to controlling HIV and treatment management, forms an essential foundation on which a life with HIV becomes thinkable, bearable, then manageable, and acceptable.

2.
Child Youth Serv Rev ; 1582024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38962749

RESUMEN

Close attention should be given to the increased reliance on kinship care to provide out-of-home care for vulnerable children and youth because although these families have various strengths, they also frequently face financial instability and experience material hardship. Living in poverty and experiencing material hardship are linked to an array of negative outcomes, including physical and mental health problems, elevated parental stress, and children's academic difficulties and social and behavioral problems. This study examined African American families who are providing informal kinship care with the aim of developing a nuanced understanding of the financial characteristics, challenges, and coping strategies of these families. Data for this study were obtained from two sources: (1) an exploratory sequential mixed-method pilot study and (2) the National Financial Capability Study. It was found that most caregivers in the pilot reported their family resources were only seldom or sometimes adequate to cover their household's basic needs. Some caregivers reported being unaware of public benefits and community resources available for kinship care families, and they had difficulties navigating the system. Additionally, family members' love and support for each other helped them to cope with financial instability. Using a nationally representative dataset, predicted probabilities for three types of financial instability were higher among households with demographic characteristics of kinship care families including difficulty covering expenses, having income that exceeds expenses, and having emergency savings. Implications for practice, policy, and future research are discussed.

3.
Monash Bioeth Rev ; 2024 Jul 11.
Artículo en Inglés | MEDLINE | ID: mdl-38990509

RESUMEN

Stimulated by development of reproductive technologies, many current bioethical accounts of parenthood focus on defining parenthood at or around birth. They tend to exclude from their scope some parent-child relationships that develop later in a child's life. In reality, a parent-child relationship can emerge or dissolve over time: the parents of person A as an adolescent or adult may be different to her parents when she is a young child. To address this aspect of parenthood, we propose a new 'mutuality account' of parenthood, grounded in the concept of ontological security. We argue that in most cases a parent-child relationship exists if there is mutual ontological security between the parent and child. We suggest that this mutual ontological security is constituted and sustained by shared frameworks of reality and cohesive personal narratives. Our intention is to broaden the conceptual understanding of parenthood, to include parent-child relationships that do not fall neatly into current bioethical accounts, and to argue against the notion that objective physiological, causal, or social ties are necessary to 'make' a parent.

4.
Front Public Health ; 12: 1392208, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38983266

RESUMEN

Introduction: Western Australia has one of the highest rates of Aboriginal children entering out-of-home care in Australia. Kinship care is the preferred culturally safe out-of-home care option for Aboriginal children, yet all jurisdictions, including Western Australia, are far from meeting best-practice national standards. Intersectoral collaboration is a key primary healthcare principle and internationally recognized for improving health systems and outcomes. This paper presents findings from a qualitative research project investigating Aboriginal primary healthcare workers' experiences of intersectoral collaboration challenges and strengthening opportunities. Methods: Constructivist grounded theory guided this research involving 55 semi-structured interviews and four focus group discussions with Aboriginal primary healthcare workers. The research was guided by Indigenous methodologies and led by Indigenous researchers Participants were recruited from seven Aboriginal Community Controlled Health Organisations located across Perth metro, Pilbara, Midwest/Gascoyne and Southwest regions in Western Australia. Results: Key themes identified around intersectoral collaboration challenges were communication, including information sharing and interagency meetings, and the relationship with the government sector, including trust and the importance of the perception of Aboriginal health service independence. Key themes around strengthening areas to improve intersectoral collaboration included strengthening service resourcing and coverage, including the availability of services, and addressing high program turnover. The need for a shift in approach, including more emphasis on Aboriginal-led care and aligning approaches between sectors, was another area for strengthening. Discussion: This study addresses a significant research gap concerning out-of-home care, kinship care, and intersectoral collaboration in an Australian Aboriginal context. Findings highlighted the need to review the out-of-home and kinship models of care to strengthen the system, including creating more formal and structured modes of collaborating and better resourcing family support and kinship care.


Asunto(s)
Servicios de Salud del Indígena , Colaboración Intersectorial , Investigación Cualitativa , Niño , Femenino , Humanos , Masculino , Grupos Focales , Cuidados en el Hogar de Adopción , Teoría Fundamentada , Servicios de Salud del Indígena/organización & administración , Entrevistas como Asunto , Australia Occidental , Aborigenas Australianos e Isleños del Estrecho de Torres
5.
Popul Stud (Camb) ; : 1-13, 2024 Jul 31.
Artículo en Inglés | MEDLINE | ID: mdl-39082585

RESUMEN

The experience of losing a child is increasingly uncommon worldwide but is no less devastating for parents who experience it. An overlooked aspect of this phenomenon is its timing: at which age do bereft parents lose a child and how are these ages at loss distributed? We use demographic methods to explore the mean and variability of maternal age at child loss in 18 countries for the 1850-2000 birth cohorts. We find that the distribution of age of child loss is bimodal, with one component representing young offspring deaths and another representing adult offspring deaths. Offspring loss is transitioning from being a relatively common life event, mostly experienced by young mothers, to a rare one spread throughout the maternal life course. Moreover, there is no evidence of convergence in the variability of age at offspring loss. These results advance the formal demography of kinship and underline the need to support bereaved parents across the life course.

6.
J Korean Med Sci ; 39(27): e198, 2024 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-39015000

RESUMEN

BACKGROUND: Relatives share more genomic regions than unrelated individuals, with closer relatives sharing more regions. This concept, paired with the increased availability of high-throughput single nucleotide polymorphism (SNP) genotyping technologies, has made it feasible to measure the shared chromosomal regions between individuals to assess their level of relation to each other. However, such techniques have remained in the conceptual rather than practical stages in terms of applying measures or indices. Recently, we developed an index called "genetic distance-based index of chromosomal sharing (GD-ICS)" utilizing large-scale SNP data from Korean family samples and demonstrated its potential for practical applications in kinship determination. In the current study, we present validation results from various real cases demonstrating the utility of this method in resolving complex familial relationships where information obtained from traditional short tandem repeats (STRs) or lineage markers is inconclusive. METHODS: We obtained large-scale SNP data through microarray analysis from Korean individuals involving 13 kinship cases and calculated GD-ICS values using the method described in our previous study. Based on the GD-ICS reference constructed for Korean families, each disputed kinship was evaluated and validated using a combination of traditional STRs and lineage markers. RESULTS: The cases comprised those A) that were found to be inconclusive using the traditional approach, B) for which it was difficult to apply traditional testing methods, and C) that were more conclusively resolved using the GD-ICS method. This method has overcome the limitations faced by traditional STRs in kinship testing, particularly in a paternity case with STR mutational events and in confirming distant kinship where the individual of interest is unavailable for testing. It has also been demonstrated to be effective in identifying various relationships without specific presumptions and in confirming a lack of genetic relatedness between individuals. CONCLUSION: This method has been proven effective in identifying familial relationships across diverse complex and practical scenarios. It is not only useful when traditional testing methods fail to provide conclusive results, but it also enhances the resolution of challenging kinship cases, which suggests its applicability in various types of practical casework.


Asunto(s)
Linaje , Polimorfismo de Nucleótido Simple , Femenino , Humanos , Masculino , Cromosomas Humanos/genética , Genotipo , Repeticiones de Microsatélite/genética , República de Corea , Pueblos del Este de Asia/genética
7.
Forensic Sci Int Genet ; 72: 103091, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38955053

RESUMEN

X-linked microhaplotypes (X-MHs) have the potential to be a valuable supplementary tool in complex kinship identification or the resolution of DNA mixtures, because they bring together the distinctive genetic pattern of X chromosomal markers and the benefits of microhaplotypes (MHs). In this study, we used the 1000 Genome database to screen and select 63 X-MHs; 18 MHs were filtered out though a batch sequencing assessment of the DNA samples collected from 112 unrelated Chinese Han individuals. The resulting 45-plex panel performed well in comprehensive assessments including repeatability, sensitivity, species specificity, resistance to PCR inhibitors or degradation, mutation rate, and accuracy in detecting DNA mixture samples. The minimum amount of DNA template that can be tested with this panel is 0.5 ng. Additionally, the alleles of the minor contributor can be accurately detected when the mixture rate is larger than 1:9 in female-male mixture or 1:19 in male-male mixture. Then, we calculated population parameters on each MH based on the allele frequency data obtained from the sequence results of the aforementioned 112 unrelated samples. Combining these parameters on each MH, it can be calculated that TDPm, TDPf, CPET, CPEDFM, CPEDFF and CNCEP3 of the 45-plex system were 1-8.99×10-13, 1-1.62×10-19, 0.9999999995, 0.9999981, 0.9955, 0.9999971 and 0.99940, respectively, indicating that the panel is capable in personal identification and parentage testing. To reveal the unique advantage of X-MHs in the analyses of complex kinship and male DNA mixture, further assessments were made. For complex kinship identification, 22 types of individual pairs with different second-degree kinship were simulated and different types of likelihood ratios (LR) were calculated for each. The results revealed that the panel can achieve accuracy of approximately 70 %∼80 % when dividing each of the three types of second-degree kinships into three or four groups. Theoretically, such sub-division cannot be done by using independent autosomal markers. For male DNA mixture analysis without suspects, the maximum likelihood ratio strategy was derived and employed in the estimation of the number of male contributors (NOMC). Simulations were conducted to verify the efficacy of the 45-plex panel in the field and to compare it with autosomal markers by assuming the 45 MHs as autosomal ones. The results showed that X-MHs can achieve higher accuracy in the estimation of NOMC than autosomal ones when the mixed males were unrelated. The results highlighted the unique value of X-linked MHs in complex kinship and male mixture analyses.


Asunto(s)
Cromosomas Humanos X , Frecuencia de los Genes , Haplotipos , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Masculino , Femenino , Análisis de Secuencia de ADN , Dermatoglifia del ADN/métodos , Reacción en Cadena de la Polimerasa , Pueblo Asiatico/genética , Polimorfismo de Nucleótido Simple , China , Genética de Población
8.
Forensic Sci Int Genet ; 72: 103090, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38968912

RESUMEN

Kinship inference has been a major issue in forensic genetics, and it remains to be solved when there is no prior hypothesis and the relationships between multiple individuals are unknown. In this study, we genotyped 91 microhaplotypes from 46 pedigree samples using massive parallel sequencing and inferred their relatedness by calculating the likelihood ratio (LR). Based on simulated and real data, different treatments were applied in the presence and absence of relatedness assumptions. The pedigree of multiple individuals was reconstructed by calculating pedigree likelihoods based on real pedigree samples. The results showed that the 91 MHs could discriminate pairs of second-degree relatives from unrelated individuals. And more highly polymorphic loci were needed to discriminate the pairs of second-degree or more distant relative from other degrees of relationship, but correct classification could be obtained by expanding the suspected relationship searched to other relationships with lower LR values. Multiple individuals with unknown relationships can be successfully reconstructed if they are closely related. Our study provides a solution for kinship inference when there are no prior assumptions, and explores the possibility of pedigree reconstruction when the relationships of multiple individuals are unknown.


Asunto(s)
Haplotipos , Linaje , Humanos , Funciones de Verosimilitud , Secuenciación de Nucleótidos de Alto Rendimiento , Genotipo , Dermatoglifia del ADN , Análisis de Secuencia de ADN , Polimorfismo de Nucleótido Simple , Genética Forense/métodos , Masculino
9.
J Forensic Sci ; 2024 Jul 17.
Artículo en Inglés | MEDLINE | ID: mdl-39021258

RESUMEN

In mass disaster events, forensic DNA laboratories may be called upon to quickly pivot their operations toward identifying bodies and reuniting remains with family members. Ideally, laboratories have considered this possibility in advance and have a plan in place. Compared with traditional short tandem repeat (STR) typing, single nucleotide polymorphisms (SNPs) may be better suited to these disaster victim identification (DVI) scenarios due to their small genomic target size, resulting in an improved success rate in degraded DNA samples. As the landscape of technology has shifted toward DNA sequencing, many forensic laboratories now have benchtop instruments available for massively parallel sequencing (MPS), facilitating this operational pivot from routine forensic STR casework to DVI SNP typing. Herein, we present the commercially available SNP sequencing assays amenable to DVI, we use data simulations to explore the potential for kinship prediction from SNP panels of varying sizes, and we give an example DVI scenario as context for presenting the matrix of considerations: kinship predictive potential, cost, and throughput of current SNP assay options. This information is intended to assist laboratories in choosing a SNP system for disaster preparedness.

10.
BMC Genomics ; 25(1): 698, 2024 Jul 16.
Artículo en Inglés | MEDLINE | ID: mdl-39014331

RESUMEN

BACKGROUND: Inner Mongolia cashmere goat (IMCG), renowned for its superior cashmere quality, is a Chinese indigenous goat breed that has been developed through natural and artificial selection over a long period. However, recently, the genetic resources of IMCGs have been significantly threatened by the introduction of cosmopolitan goat breeds and the absence of adequate breed protection systems. RESULTS: In order to assess the conservation effectiveness of IMCGs and efficiently preserve and utilize the purebred germplasm resources, this study analyzed the genetic diversity, kinship, family structure, and inbreeding of IMCGs utilizing resequencing data from 225 randomly selected individuals analyzed using the Plink (v.1.90), GCTA (v.1.94.1), and R (v.4.2.1) software. A total of 12,700,178 high-quality SNPs were selected through quality control from 34,248,064 SNP sites obtained from 225 individuals. The average minor allele frequency (MAF), polymorphic information content (PIC), and Shannon information index (SHI) were 0.253, 0.284, and 0.530, respectively. The average observed heterozygosity (Ho) and the average expected heterozygosity (He) were 0.355 and 0.351, respectively. The analysis of the identity by state distance matrix and genomic relationship matrix has shown that most individuals' genetic distance and genetic relationship are far away, and the inbreeding coefficient is low. The family structure analysis identified 10 families among the 23 rams. A total of 14,109 runs of homozygosity (ROH) were identified in the 225 individuals, with an average ROH length of 1014.547 kb. The average inbreeding coefficient, calculated from ROH, was 0.026 for the overall population and 0.027 specifically among the 23 rams, indicating a low level of inbreeding within the conserved population. CONCLUSIONS: The IMCGs exhibited moderate polymorphism and a low level of kinship with inbreeding occurring among a limited number of individuals. Simultaneously, it is necessary to prevent the loss of bloodline to guarantee the perpetuation of the IMCGs' germplasm resources.


Asunto(s)
Variación Genética , Cabras , Polimorfismo de Nucleótido Simple , Animales , Cabras/genética , Secuenciación Completa del Genoma , Frecuencia de los Genes , Endogamia , China
11.
Front Genet ; 15: 1401898, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38903754

RESUMEN

Kinship analysis is a crucial aspect of forensic genetics. This study analyzed 1,222 publications on kinship analysis from 1960 to 2023 using bibliometric analysis techniques, investigating the annual publication and citation patterns, most productive countries, organizations, authors and journals, most cited documents and co-occurrence of keywords. The initial publication in this field occurred in 1960. Since 2007, there has been a significant increase in publications, with over 30 published annually except for 2010. China had the most publications (n = 213, 17.43%), followed by the United States (n = 175, 14.32%) and Germany (n = 89, 7.28%). The United States also had the highest citation count. Sichuan University in China has the largest number of published articles. The University of Leipzig and the University of Cologne in Germany exhibit the highest total citation count and average citation, respectively. Budowle B was the most prolific author and Kayser M was the most cited author. In terms of publications, Forensic Science International- Genetics, Forensic Science International, and International Journal of Legal Medicine were the most prolific journals. Among them, Forensic Science International-Genetics boasted the highest h-index, citation count, and average citation rate. The most frequently cited publication was "Van Oven M, 2009, Hum Mutat", with a total of 1,361 citations. The most frequent co-occurrence keyword included "DNA", "Loci", "Paternity testing", "Population", "Markers", and "Identification", with recent interest focusing on "Kinship analysis", "SNP" and "Inference". The current research is centered around microhaplotypes, forensic genetic genealogy, and massively parallel sequencing. The field advanced with new DNA analysis methods, tools, and genetic markers. Collaborative research among nations, organizations, and authors benefits idea exchange, problem-solving efficiency, and high-quality results.

12.
BMC Genomics ; 25(1): 644, 2024 Jun 28.
Artículo en Inglés | MEDLINE | ID: mdl-38943067

RESUMEN

Faba bean is an important legume crop. The genetic diversity among faba bean genotypes is very important for the genetic improvement of target traits. A set of 128 fab bean genotypes that are originally from Egypt were used in this study to investigate the genetic diversity and population structure. The 128 genotypes were genotyped using the Single Primer Enrichment Technology (SPET) by which a set of 6759 SNP markers were generated after filtration. The SNP markers were distributed on all chromosomes with a range extending from 822 (Chr. 6) to 1872 (Chr.1). The SNP markers had wide ranges of polymorphic information content (PIC), gene diversity (GD), and minor allele frequency. The analysis of population structure divided the Egyptian faba bean population into five subpopulations. Considerable genetic distance was found among all genotypes, ranging from 0.1 to 0.4. The highly divergent genotype was highlighted in this study and the genetic distance among genotypes ranged from 0.1 and 0.6. Moreover, the structure of linkage disequilibrium was studied, and the analysis revealed a low level of LD in the Egyptian faba bean population. A slow LD decay at the genomic and chromosomal levels was observed. Interestingly, the distribution of haplotype blocks was presented in each chromosome and the number of haplotype block ranged from 65 (Chr. 4) to 156 (Chr. 1). Migration and genetic drift are the main reasons for the low LD in the Egyptian faba bean population. The results of this study shed light on the possibility of the genetic improvement of faba bean crop in Egypt and conducting genetic association analyses to identify candidate genes associated with target traits (e.g. protein content, grain yield, etc.) in this panel.


Asunto(s)
Desequilibrio de Ligamiento , Polimorfismo de Nucleótido Simple , Vicia faba , Vicia faba/genética , Egipto , Variación Genética , Genotipo , Haplotipos , Cromosomas de las Plantas/genética
13.
Mol Biol Evol ; 41(6)2024 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-38839045

RESUMEN

Human populations harbor a high concentration of deleterious genetic variants. Here, we tested the hypothesis that non-random mating practices affect the distribution of these variants, through exposure in the homozygous state, leading to their purging from the population gene pool. To do so, we produced whole-genome sequencing data for two pairs of Asian populations exhibiting different alliance rules and rates of inbreeding, but with similar effective population sizes. The results show that populations with higher rates of inbred matings do not purge deleterious variants more efficiently. Purging therefore has a low efficiency in human populations, and different mating practices lead to a similar mutational load.


Asunto(s)
Pueblo Asiatico , Humanos , Pueblo Asiatico/genética , Genética de Población/métodos , Variación Genética , Endogamia
14.
Proc Natl Acad Sci U S A ; 121(27): e2406734121, 2024 Jul 02.
Artículo en Inglés | MEDLINE | ID: mdl-38913897

RESUMEN

The Merovingian period (5th to 8th cc AD) was a time of demographic, socioeconomic, cultural, and political realignment in Western Europe. Here, we report the whole-genome shotgun sequence data of 30 human skeletal remains from a coastal Late Merovingian site of Koksijde (675 to 750 AD), alongside 18 remains from two Early to Late Medieval sites in present-day Flanders, Belgium. We find two distinct ancestries, one shared with Early Medieval England and the Netherlands, while the other, minor component, reflecting likely continental Gaulish ancestry. Kinship analyses identified no large pedigrees characteristic to elite burials revealing instead a high modularity of distant relationships among individuals of the main ancestry group. In contrast, individuals with >90% Gaulish ancestry had no kinship links among sampled individuals. Evidence for population structure and major differences in the extent of Gaulish ancestry in the main group, including in a mother-daughter pair, suggests ongoing admixture in the community at the time of their burial. The isotopic and genetic evidence combined supports a model by which the burials, representing an established coastal nonelite community, had incorporated migrants from inland populations. The main group of burials at Koksijde shows an abundance of >5 cM long shared allelic intervals with the High Medieval site nearby, implying long-term continuity and suggesting that similarly to Britain, the Early Medieval ancestry shifts left a significant and long-lasting impact on the genetic makeup of the Flemish population. We find substantial allele frequency differences between the two ancestry groups in pigmentation and diet-associated variants, including those linked with lactase persistence, likely reflecting ancestry change rather than local adaptation.


Asunto(s)
Linaje , Humanos , Historia Medieval , Bélgica , Entierro/historia , Genética de Población/métodos , Femenino , Masculino , ADN Antiguo/análisis , Inglaterra , Migración Humana , Arqueología , Países Bajos , Genoma Humano
15.
Front Genet ; 15: 1385611, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38873114

RESUMEN

Knowledge about genetic diversity and population structure among goat populations is essential for understanding environmental adaptation and fostering efficient utilization, development, and conservation of goat breeds. Uganda's indigenous goats exist in three phenotypic groups: Mubende, Kigezi, and Small East African. However, a limited understanding of their genetic attributes and population structure hinders the development and sustainable utilization of the goats. Using the Goat Illumina 60k chip International Goat Genome Consortium V2, the whole-genome data for 1,021 indigenous goats sourced from 10 agroecological zones in Uganda were analyzed for genetic diversity and population structure. A total of 49,337 (82.6%) single-nucleotide polymorphism markers were aligned to the ARS-1 goat genome and used to assess the genetic diversity, population structure, and kinship relationships of Uganda's indigenous goats. Moderate genetic diversity was observed. The observed and expected heterozygosities were 0.378 and 0.383, the average genetic distance was 0.390, and the average minor allele frequency was 0.30. The average inbreeding coefficient (Fis) was 0.014, and the average fixation index (Fst) was 0.016. Principal component analysis, admixture analysis, and discriminant analysis of principal components grouped the 1,021 goat genotypes into three genetically distinct populations that did not conform to the known phenotypic populations but varied across environmental conditions. Population 1, comprising Mubende (90%) and Kigezi (8.1%) goats, is located in southwest and central Uganda, a warm and humid environment. Population 2, which is 59% Mubende and 49% Small East African goats, is located along the Nile Delta in northwestern Uganda and around the Albertine region, a hot and humid savannah grassland. Population 3, comprising 78.4% Small East African and 21.1% Mubende goats, is found in northeastern to eastern Uganda, a hot and dry Commiphora woodlands. Genetic diversity and population structure information from this study will be a basis for future development, conservation, and sustainable utilization of Uganda's goat genetic resources.

16.
Forensic Sci Int Genet ; 72: 103078, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38889491

RESUMEN

DNA mixtures are a common sample type in forensic genetics, and we typically assume that contributors to the mixture are unrelated when calculating the likelihood ratio (LR). However, scenarios involving mixtures with related contributors, such as in family murder or incest cases, can also be encountered. Compared to the mixtures with unrelated contributors, the kinship within the mixture would bring additional challenges for the inference of the number of contributors (NOC) and the construction of probabilistic genotyping models. To evaluate the influence of potential kinship on the individual identification of the person of interest (POI), we conducted simulations of two-person (2 P) and three-person (3 P) DNA mixtures containing unrelated or related contributors (parent-child, full-sibling, and uncle-nephew) at different mixing ratios (for 2 P: 1:1, 4:1, 9:1, and 19:1; for 3 P: 1:1:1, 2:1:1, 5:4:1, and 10:5:1), and performed massively parallel sequencing (MPS) using MGIEasy Signature Identification Library Prep Kit on MGI platform. In addition, in silico simulations of mixtures with unrelated and related contributors were also performed. In this study, we evaluated 1): the MPS performance; 2) the influence of multiple genetic markers on determining the presence of related contributors and inferring the NOC within the mixture; 3) the probability distribution of MAC (maximum allele count) and TAC (total allele count) based on in silico mixture profiles; 4) trends in LR values with and without considering kinship in mixtures with related and unrelated contributors; 5) trends in LR values with length- and sequence-based STR genotypes. Results indicated that multiple numbers and types of genetic markers positively influenced kinship and NOC inference in a mixture. The LR values of POI were strongly dependent on the mixing ratio. Non- and correct-kinship hypotheses essentially did not affect the individual identification of the major POI; the correct kinship hypothesis yielded more conservative LR values; the incorrect kinship hypothesis did not necessarily lead to the failure of POI individual identification. However, it is noteworthy that these considerations could lead to uncertain outcomes in the identification of minor contributors. Compared to length-based STR genotyping, using sequence-based STR genotype increases the individual identification power of the POI, concurrently improving the accuracy of mixing ratio inference using EuroForMix. In conclusion, the MGIEasy Signature Identification Library Prep kit demonstrated robust individual identification power, which is a viable MPS panel for forensic DNA mixture interpretations, whether involving unrelated or related contributors.


Asunto(s)
Dermatoglifia del ADN , ADN , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , ADN/genética , Funciones de Verosimilitud , Análisis de Secuencia de ADN , Repeticiones de Microsatélite , Genotipo , Genética Forense/métodos
17.
Forensic Sci Int Genet ; 71: 103060, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38796876

RESUMEN

In the Battle of Crete during the World War II occupation of Greece, the German forces faced substantial civilian resistance. To retribute the numerous German losses, a series of mass executions took place in numerous places in Crete; a common practice reported from Greece and elsewhere. In Adele, a village in the regional unit of Rethymnon, 18 male civilians were executed and buried in a burial pit at the Sarakina site. In this study, the first one conducted for a conflict that occurred in Greece, we identified for humanitarian purposes the 18 skulls of the Sarakina victims, following a request from the local community of Adele. The molecular identification of historical human remains via ancient DNA approaches and low coverage whole genome sequencing has only recently been introduced. Here, we performed genome skimming on the living relatives of the victims, as well as high throughput historical DNA analysis on the skulls to infer the kinship degrees among the victims via genetic relatedness analyses. We also conducted targeted anthropological analysis to successfully complete the identification of all Sarakina victims. We demonstrate that our methodological approach constitutes a potentially highly informative forensic tool to identify war victims. It can hence be applied to analogous studies on degraded DNA, thus, paving the path for systematic war victim identification in Greece and beyond.


Asunto(s)
Dermatoglifia del ADN , ADN Antiguo , Segunda Guerra Mundial , Humanos , ADN Antiguo/análisis , Masculino , Grecia , Cráneo , Genoma Humano , Antropología Forense , Secuenciación Completa del Genoma
18.
Heliyon ; 10(9): e30074, 2024 May 15.
Artículo en Inglés | MEDLINE | ID: mdl-38720757

RESUMEN

Forensic DNA kinship investigation involves analyzing genetic relationships between individuals to offer new leads for solving (cold) cases. Familial DNA matching has become a valuable asset in criminal case investigations, especially when traditional DNA methods hit dead ends. However, concerns surrounding ethical and privacy implications raised questions about its implementation and acceptance among the general public. The present study investigated the public perspectives regarding forensic DNA kinship investigations among 1710 Dutch-speaking Belgians using an online cross-sectional survey. The questionnaire consisted of three categories, including personal information, DNA knowledge, and their opinion on several familial DNA searching and investigative genetic genealogy related questions. The participants' average DNA knowledge score was 71 %, indicating a relatively high level of understanding of DNA-related concepts. Remarkably, the study revealed that 92 % of the participants expressed willingness to cooperate as a volunteer in a forensic DNA kinship investigation, irrespective of their scientific background or educational level. Key factors influencing participation included assurance of painless sampling and robust privacy safeguards. Participants lacking familiarity with DNA hesitated more towards participating in forensic DNA analysis, referring to "the fear of the unknown". Despite ethical and privacy concerns, the highly positive attitude towards forensic DNA analysis reflects a level of empathy and willingness to contribute to the pursuit of justice. Nearly all participants (95 %) agreed to use online DNA databases for resolving violent crimes with forensic genetic genealogy, but half emphasized the need for prior informed consent, referring to the current "opt-in" system. The results underscore the need for stringent regulations and ethical oversight to ensure the responsible use of genetic data while striking a balance between public safety and the protection of individuals' privacy rights. These findings add to the growing body of evidence regarding the potential benefits of forensic DNA kinship matching as a tool in criminal investigations, suggesting its potential future utilization and legalization.

19.
Mov Ecol ; 12(1): 36, 2024 May 09.
Artículo en Inglés | MEDLINE | ID: mdl-38725038

RESUMEN

BACKGROUND: The life cycle of most baleen whales involves annual migrations from low-latitude breeding grounds to high latitude feeding grounds. In most species, these migrations are traditionally considered to be carried out according to information acquired through vertical social learning during the first months of life and made individually. However, some recent studies have suggested a more complex scenario, particularly for the species of the Balaenoptera genus. METHODS: Here, we studied the variation of δ15N and δ13C values along the growth axis of the baleen plate from 24 fin whales feeding off western Iceland to delve into their pattern of movements and to identify potential associations between individuals. The segment of baleen plate analyzed informed about at least two complete migratory cycles. We performed cluster analyses through two different methodologies and, whenever possible, we genotyped 20 microsatellite loci to determine potential existence of kinship. RESULTS: Results of the of δ15N and δ13C values agree with a dispersion strategy in the winter breeding grounds. However, and despite the overall large variability, several pairs or groups of individuals with no kinship showed highly similar isotopic patterns for two consecutive years for both δ15N and δ13C values. CONCLUSIONS: Our results suggest that, notably, some whales without kinship share the same migratory regime and destinations. We hypothesize that this could reflect either: (i) the sharing of particularly beneficial migratory regimes, and/or (ii) long-term association between individuals.

20.
Genes (Basel) ; 15(5)2024 04 27.
Artículo en Inglés | MEDLINE | ID: mdl-38790187

RESUMEN

The systematic revision of the family Peristediidae remains an unresolved issue due to their diverse and unique morphology. Despite the popularity of using mitochondrial genome research to comprehensively understand phylogenetic relationships in fish, genetic data for peristediid fish need to be included. Therefore, this study aims to investigate the mitochondrial genomic characteristics and intra-family phylogenetic relationships of Peristediidae by utilizing mitochondrial genome analysis. Therefore, this study aims to investigate the phylogenetic relationship of Peristediidae by utilizing mitochondrial genome analysis. The mitochondrial genome of four species of Peristediidae (Peristedion liorhynchus, Satyrichthys welchi, Satyrichthys rieffeli, and Scalicus amiscus) collected in the East China Sea was studied. The mitochondrial gene sequence lengths of four fish species were 16,533 bp, 16,526 bp, 16,527 bp, and 16,526 bp, respectively. They had the same mitochondrial structure and were all composed of 37 genes and one control region. Most PCGs used ATG as the start codon, and a few used GTG as the start codon. An incomplete stop codon (TA/T) occurred. The AT-skew and GC-skew values of 13 PCGs from four species were negative, and the GC-skew amplitude was greater than that of AT-skew. All cases of D-arm were found in tRNA-Ser (GCT). The Ka/Ks ratio analysis indicated that 13 PCGs were suffering purifying selection. Based on 12 PCGs (excluding ND6) sequences, a phylogenetic tree was constructed using Bayesian inference (BI) and maximum likelihood (ML) methods, providing a further supplement to the scientific classification of Peristediidae fish. According to the results of divergence time, the four species of fish had apparent divergence in the Early Cenozoic, which indicates that the geological events at that time caused the climax of species divergence and evolution.


Asunto(s)
Genoma Mitocondrial , Filogenia , Animales , Genoma Mitocondrial/genética , Peces/genética , Peces/clasificación , ARN de Transferencia/genética , Evolución Molecular
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