Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 893
Filtrar
1.
Evol Appl ; 17(9): e70007, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39286761

RESUMO

The establishment and spread of invasive species are directly related to intersexual interactions as dispersal and reproductive success are related to distribution, effective population size, and population growth. Accordingly, populations established by r-selected species are particularly difficult to suppress or eradicate. One such species, the red swamp crayfish (Procambarus clarkii) is established globally at considerable ecological and financial costs to natural and human communities. Here, we develop a single nucleotide polymorphism (SNP) loci panel for P. clarkii using restriction-associated DNA-sequencing data. We use the SNP panel to successfully genotype 1800 individuals at 930 SNPs in southeastern Michigan, USA. Genotypic data were used to reconstruct pedigrees, which enabled the characterization of P. clarkii's mating system and statistical tests for associations among environmental, demographic, and phenotypic predictors and adult reproductive success estimates. We identified juvenile cohorts using genotype-based pedigrees, body size, and sampling timing, which elucidated the breeding phenology of multiple introduced populations. We report a high prevalence of multiple paternity in each surveyed waterbody, indicating polyandry in this species. We highlight the use of newly developed rapid genomic assessment tools for monitoring population reproductive responses, effective population sizes, and dispersal during ongoing control efforts.

2.
Ethology ; 130(8)2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-39309638

RESUMO

Degus (Octodon degus) are a highly gregarious species of caviomorph rodent native to South America. Kinship does not appear to play a role in degu social structure, and alloparenting is often observed between unrelated females. We hypothesize that female degus readily establish new, cooperative peer relationships. Here we examined changes in dyadic behavior as individuals became more familiar, testing the prediction that interactions between female strangers would quickly resemble those of cagemates. Adult degus underwent a several week series of 20 minute "reunion" social exposures, interleaving reunions with initial strangers and, as a control, familiar cagemates. Males showed initially higher levels of interaction with strangers that converged with cagemate levels over experience. Females could be split into two groups: those that consistently interacted more with strangers (SC-HIGH) and those that did not (SC-LOW); however, unlike males, the higher interaction levels observed between strangers did not change with familiarity. Following 10 reunion sessions female strangers were housed together to create "new cagemates". Even after co-housing, SC-HIGH (but not SC-LOW) females continued to interact more with the relatively unfamiliar peer than their prior cagemate, particularly in face-to-face and rear-sniffing interactions. A final set of reunions with new strangers found that individual differences in female responses to social novelty were preserved. These results reveal sex differences in the rules relating familiarization to social relationships in degus, and that female predispositions toward cooperation may be due to inherent responses to new individuals more than to how they negotiate relationships over time.

3.
Forensic Sci Int Genet ; 74: 103131, 2024 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-39241298

RESUMO

A pilot study was performed using two different DNA technology platforms conducted by two laboratories to analyze DNA extracted from 83-year-old, human male skeletal remains from 16 individuals, of which there are no other viable means to identify these war victims. The workflow of the more recent developed ForenSeq Kintelligence Kit and next generation sequencing was compared to that of the standard capillary electrophoresis - short tandem repeat (STR) method (Power Plex ESX17 and Y23 Systems). The findings indicate that greater amount of useful genetic data can be gained with the Kintelligence system across the range of samples under study and particularly for samples in which partial or no STR profiles are obtained. SNP data are more likely to be obtained from degraded samples, like the ones analyzed in this study. Moreover, high volume SNP data are suitable for long distance kinship associations and genetic genealogy databases to develop more investigative leads for future kinship and missing persons cases, a process not feasible by STR typing.

4.
Cogn Sci ; 48(9): e13484, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39228272

RESUMO

When people talk about kinship systems, they often use co-speech gestures and other representations to elaborate. This paper investigates such polysemiotic (spoken, gestured, and drawn) descriptions of kinship relations, to see if they display recurring patterns of conventionalization that capture specific social structures. We present an exploratory hypothesis-generating study of descriptions produced by a lesser-known ethnolinguistic community to the cognitive sciences: the Paamese people of Vanuatu. Forty Paamese speakers were asked to talk about their family in semi-guided kinship interviews. Analyses of the speech, gesture, and drawings produced during these interviews revealed that lineality (i.e., mother's side vs. father's side) is lateralized in the speaker's gesture space. In other words, kinship members of the speaker's matriline are placed on the left side of the speaker's body and those of the patriline are placed on their right side, when they are mentioned in speech. Moreover, we find that the gesture produced by Paamese participants during verbal descriptions of marital relations are performed significantly more often on two diagonal directions of the sagittal axis. We show that these diagonals are also found in the few diagrams that participants drew on the ground to augment their verbo-gestural descriptions of marriage practices with drawing. We interpret this behavior as evidence of a spatial template, which Paamese speakers activate to think and communicate about family relations. We therefore argue that extending investigations of kinship structures beyond kinship terminologies alone can unveil additional key factors that shape kinship cognition and communication and hereby provide further insights into the diversity of social structures.


Assuntos
Cognição , Comunicação , Família , Gestos , Humanos , Masculino , Feminino , Família/psicologia , Adulto , Fala , Pessoa de Meia-Idade
5.
Forensic Sci Int ; 364: 112208, 2024 Aug 27.
Artigo em Inglês | MEDLINE | ID: mdl-39232402

RESUMO

The successful application of Forensic Investigative Genetic Genealogy (FIGG) to the identification of unidentified human remains and perpetrators of serious crime has led to a growing interest in its use internationally, including Australia. Routinely, FIGG has relied on the generation of high-density single nucleotide polymorphism (SNP) profiles from forensic samples using whole genome array (WGA) (∼650,000 or more SNPs) or whole genome sequencing (WGS) (millions of SNPs) for DNA segment-based comparisons in commercially available genealogy databases. To date, this approach has required DNA of a quality and quantity that is often not compatible with forensic samples. Furthermore, it requires the management of large data sets that include SNPs of medical relevance. The ForenSeq™ Kintelligence kit, comprising of 10,230 SNPs including 9867 for kinship association, was designed to overcome these challenges using a targeted amplicon sequencing-based method developed for low DNA inputs, inhibited and/or degraded forensic samples. To assess the ability of the ForenSeq™ Kintelligence workflow to correctly predict biological relationships, a comparative study comprising of 12 individuals from a family (with varying degrees of relatedness from 1st to 6th degree relatives) was undertaken using ForenSeq™ Kintelligence and a WGA approach using the Illumina Global Screening Array-24 version 3.0 Beadchip. All expected 1st, 2nd, 3rd, 4th and 5th degree relationships were correctly predicted using ForenSeq™ Kintelligence, while the expected 6th degree relationships were not detected. Given the (often) limited availability of forensic samples, findings from this study will assist Australian Law enforcement and other agencies considering the use of FIGG, to determine if the ForenSeq™ Kintelligence is suitable for existing workflows and casework sample types considered for FIGG.

6.
Forensic Sci Int Genet ; 74: 103128, 2024 Aug 31.
Artigo em Inglês | MEDLINE | ID: mdl-39243525

RESUMO

The unique features of the X chromosome can be crucial to complement autosomal profiling or to disentangle complex kinship problems, providing in some cases a similar or even greater power than autosomes in paternity/maternity investigations. While theoretical and informatics approaches for pairwise X-linked kinship analyses are well established for euploid individuals, these are still lacking for individuals with an X chromosome aneuploidy. To trigger the fulfilment of this gap, this research presents a mathematical framework that enables the quantification of DNA evidence in pairwise kinship analyses, involving two non-inbred individuals, one of whom with a non-mosaic X chromosome aneuploidy: Trisomy X (47, XXX), Klinefelter (47, XXY) or Turner (45, X0) syndrome. As previously developed for a regular number of chromosomes, this approach relies on the probability of related individuals sharing identical-by-descent (IBD) alleles at one specific locus and it can be applied to any set of independently transmitted markers, with no gametic association in the population. The kinship hypotheses mostly considered in forensic casework are specifically addressed in this work, but the reasoning and procedure can be applied to virtually any pairwise kinship problem under the referred assumptions. Algebraic formulae for joint genotypic probabilities cover all the possible genotypic configurations and pedigrees. Compared with the analyses assuming individuals with a regular number of chromosomes, complicating factors rely on the different possibilities for both the parental origin of the error (either maternal or paternal), and the type of error occurred (either meiotic or post-zygotic mitotic). These imply that a non-inbred female with Triple X or a male with Klinefelter syndrome may carry two IBD alleles at the same locus. Thus, and contrarily to what occurs for the standard case, IBD partitions depend not only on the kinship hypothesis under analysis but also on the genotypic configuration of the analyzed individuals. For some cases, parameters of interest can be inferred, while for others recommended values based on the available literature are provided. This work is the starting point to analyze X-chromosomal data under the scope of kinship problems, involving individuals with aneuploidies, as it will enhance the quantification of the DNA evidence not only in forensics but also in the medical genetics field. We hope it will trigger the development of approaches including other complicating factors, as a greater number of individuals, possibility of the occurrence of mutations and/or silent alleles, as well as the analysis of linked markers.

7.
Mol Biol Evol ; 41(9)2024 Sep 04.
Artigo em Inglês | MEDLINE | ID: mdl-39268685

RESUMO

The Roman period saw the empire expand across Europe and the Mediterranean, including much of what is today Great Britain. While there is written evidence of high mobility into and out of Britain for administrators, traders, and the military, the impact of imperialism on local, rural population structure, kinship, and mobility is invisible in the textual record. The extent of genetic change that occurred in Britain during the Roman military occupation remains underexplored. Here, using genome-wide data from 52 ancient individuals from eight sites in Cambridgeshire covering the period of Roman occupation, we show low levels of genetic ancestry differentiation between Romano-British sites and indications of larger populations than in the Bronze Age and Neolithic. We find no evidence of long-distance migration from elsewhere in the Empire, though we do find one case of possible temporary mobility within a family unit during the Late Romano-British period. We also show that the present-day patterns of genetic ancestry composition in Britain emerged after the Roman period.


Assuntos
Migração Humana , População Rural , Humanos , Reino Unido , História Antiga , DNA Antigo/análise , Genética Populacional
8.
Qual Health Res ; : 10497323241254256, 2024 Aug 07.
Artigo em Inglês | MEDLINE | ID: mdl-39110001

RESUMO

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.

9.
Genome Biol ; 25(1): 216, 2024 Aug 12.
Artigo em Inglês | MEDLINE | ID: mdl-39135108

RESUMO

The advent of genome-wide ancient DNA analysis has revolutionized our understanding of prehistoric societies. However, studying biological relatedness in these groups requires tailored approaches due to the challenges of analyzing ancient DNA. READv2, an optimized Python3 implementation of the most widely used tool for this purpose, addresses these challenges while surpassing its predecessor in speed and accuracy. For sufficient amounts of data, it can classify up to third-degree relatedness and differentiate between the two types of first-degree relatedness, full siblings and parent-offspring. READv2 enables user-friendly, efficient, and nuanced analysis of biological relatedness, facilitating a deeper understanding of past social structures.


Assuntos
Arqueologia , DNA Antigo , Software , Humanos , DNA Antigo/análise , Arqueologia/métodos , Genômica/métodos , Linhagem
10.
Hist Human Sci ; 37(3-4): 3-15, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39185279

RESUMO

The preferred tool for conceptualizing, determining, and claiming relations of kinship, ancestry, and descent among humans are diagrams. For this reason, and at the same time to avoid a reduction to biology as transported by terms such as kinship, ancestry, and descent, we introduce the expression diagrammatics of relatedness. We seek to understand the enormous influence that especially tree diagrams have had as a way to express and engage with human relatedness, but hold that this success can only be adequately understood by attending to what in fact are broader diagrammatic practices. These practices bring to light that diagrams of relatedness do not simply make visible natural connections, but create or deny relations in particular ways and for particular reasons. In this special section, contributors investigate diagrams of relatedness in genealogy, heredity, as well as biological and social anthropology. Conceiving of diagrams as techniques that transcend such binaries as 'thought and action' and 'image and text', we aim at an understanding of how they were constructed and how they functioned in particular epistemic, cultural, and political contexts.

11.
Proc Natl Acad Sci U S A ; 121(33): e2405653121, 2024 Aug 13.
Artigo em Inglês | MEDLINE | ID: mdl-39110728

RESUMO

How does social complexity depend on population size and cultural transmission? Kinship structures in traditional societies provide a fundamental illustration, where cultural rules between clans determine people's marriage possibilities. Here, we propose a simple model of kinship interactions that considers kin and in-law cooperation and sexual rivalry. In this model, multiple societies compete. Societies consist of multiple families with different cultural traits and mating preferences. These values determine interactions and hence the growth rate of families and are transmitted to offspring with mutations. Through a multilevel evolutionary simulation, family traits and preferences are grouped into multiple clans with interclan mating preferences. It illustrates the emergence of kinship structures as the spontaneous formation of interdependent cultural associations. Emergent kinship structures are characterized by the cycle length of marriage exchange and the number of cycles in society. We numerically and analytically clarify their parameter dependence. The relative importance of cooperation versus rivalry determines whether attraction or repulsion exists between families. Different structures evolve as locally stable attractors. The probabilities of formation and collapse of complex structures depend on the number of families and the mutation rate, showing characteristic scaling relationships. It is now possible to explore macroscopic kinship structures based on microscopic interactions, together with their environmental dependence and the historical causality of their evolution. We propose the basic causal mechanism of the formation of typical human social structures by referring to ethnographic observations and concepts from statistical physics and multilevel evolution. Such interdisciplinary collaboration will unveil universal features in human societies.


Assuntos
Casamento , Densidade Demográfica , Humanos , Taxa de Mutação , Família , Evolução Cultural , Masculino , Mutação , Feminino , Modelos Teóricos , Cultura
12.
Primates ; 65(5): 397-410, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39126443

RESUMO

In primates living in one-male groups, the sole resident male is often an important social partner for group immatures. For such groups, however, replacement of the male and subsequent disruptions of their relationships are almost inevitable. Here, we described social relationships of immature wild western lowland gorillas within a habituated group, where two natal and eight immigrant immatures lived with the resident silverback. We recorded 5 m proximities among group members as an indicator of social closeness. We found that natal immatures spent more time within 5 m of the silverback than immigrant ones. The social closeness between the silverback and the younger immigrant immatures sharply increased after 1 year, but these values were still below those of the natal immatures. Regarding the development of independence from the mother, we found no significant difference between natal and immigrant immatures. The socially preferred nonmother mature for natal immatures was the silverback, whereas many immigrant immatures preferred a paternal adult sister who had previously co-resided with them in a previous group. Our results suggest that familiarity may be an important determinant of the social closeness between the silverback and immatures, but 1 year of co-residence might be too short to construct sufficient familiarity. The paternal sister may have played a pivotal role in the assimilation of immigrant immatures into the non-natal group. Nonetheless, it is not negligible that the silverback and immigrant immatures formed day-to-day close proximities. His tolerance toward co-residence with immigrant immatures can be considered a reproductive tactic.


Assuntos
Gorilla gorilla , Comportamento Social , Animais , Gorilla gorilla/psicologia , Gorilla gorilla/fisiologia , Masculino , Feminino , Comportamento Animal
13.
BMC Genomics ; 25(1): 698, 2024 Jul 16.
Artigo em Inglês | MEDLINE | ID: mdl-39014331

RESUMO

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.


Assuntos
Variação Genética , Cabras , Polimorfismo de Nucleotídeo Único , Animais , Cabras/genética , Sequenciamento Completo do Genoma , Frequência do Gene , Endogamia , China
14.
J Korean Med Sci ; 39(27): e198, 2024 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-39015000

RESUMO

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.


Assuntos
Linhagem , Polimorfismo de Nucleotídeo Único , Feminino , Humanos , Masculino , Cromossomos Humanos/genética , Genótipo , Repetições de Microssatélites/genética , República da Coreia , População do Leste Asiático/genética
15.
Front Public Health ; 12: 1392208, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38983266

RESUMO

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.


Assuntos
Serviços de Saúde do Indígena , Colaboração Intersetorial , Pesquisa Qualitativa , Criança , Feminino , Humanos , Masculino , Grupos Focais , Cuidados no Lar de Adoção , Teoria Fundamentada , Serviços de Saúde do Indígena/organização & administração , Entrevistas como Assunto , Austrália Ocidental , Povos Aborígenes Australianos e Ilhéus do Estreito de Torres
16.
Child Youth Serv Rev ; 1582024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38962749

RESUMO

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.

17.
Popul Stud (Camb) ; : 1-13, 2024 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-39082585

RESUMO

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.

18.
Forensic Sci Int Genet ; 72: 103091, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38955053

RESUMO

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.


Assuntos
Cromossomos Humanos X , Frequência do Gene , Haplótipos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Feminino , Análise de Sequência de DNA , Impressões Digitais de DNA/métodos , Reação em Cadeia da Polimerase , Povo Asiático/genética , Polimorfismo de Nucleotídeo Único , China , Genética Populacional
19.
Forensic Sci Int Genet ; 72: 103090, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38968912

RESUMO

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.


Assuntos
Haplótipos , Linhagem , Família , Funções Verossimilhança , Humanos , Masculino , Feminino , Loci Gênicos , Polimorfismo Genético
20.
J Forensic Sci ; 69(5): 1546-1557, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39021258

RESUMO

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.


Assuntos
Impressões Digitais de DNA , Vítimas de Desastres , Sequenciamento de Nucleotídeos em Larga Escala , Polimorfismo de Nucleotídeo Único , Humanos , Tomada de Decisões , Impressões Digitais de DNA/economia , Impressões Digitais de DNA/métodos , Sequenciamento de Nucleotídeos em Larga Escala/economia , Repetições de Microssatélites , Análise de Sequência de DNA/economia , Análise de Sequência de DNA/métodos
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA