Mutational analysis of 23 autosomal short tandem repeats based on trio paternity testing in the Korean population.

This study aimed to estimate A-STR mutation rates in 2,317 Korean parent-child trios by examining 20 Combined DNA Index System (CODIS) core loci (D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, CSF1PO, FGA, TH01, TPOX, vWA, D1S1656, D2S441, D2S1338, D10S1248, D12S391, D19S433, and D22S1045) and three non-CODIS loci (Penta E, Penta D, and SE33). Locus-specific mutation rate estimates varied from 0.00 to 8.63 × 10-3 per generation, with an average mutation rate of 1.62 × 10-3 (95 % CI, 1.39-1.88 × 10-3). We also combined data from previous studies to obtain comprehensive genetic values for the Korean population, and the average mutation rate was 1.59 × 10-3 (95 % CI, 1.38-1.82 × 10-3). Single-step mutations (95.69 %) and double-step mutations (3.35 %) were observed in the mutation pattern analysis, and cases expected to have multi-step mutations (0.96 %) were also observed. Large-sized alleles exhibited more loss mutations than gain mutations, and paternal mutations (62.68 %) were more frequently observed than maternal mutations (19.62 %). The calculated values and features of the 23 A-STRs explored in this study are expected to play a crucial role in establishing criteria for forensic genetic interpretation.

Paternity bias and cryptic female choice in chickens.

Sperm competition and cryptic female choice (CFC) are 2 significant mechanisms of postcopulatory sexual selection that greatly impact fertilization success in various species. Despite extensive research has conducted on sperm competition and the evolution of sperm traits in internal fertilization, our understanding of the female preferences in selecting sperm is still limited. Here, we aimed to investigate the characteristics of CFC in chickens by utilizing artificial insemination with mixed semen to control for variations in male fertilization success caused by female perception of male quality and mating order. Our results revealed that the offspring from multiple-mated females exhibited mixed paternity. Although the males had an equal number of viable sperm, 1 male consistently exhibited a 15% higher success rate on average, regardless of whether the insemination was performed with fresh or diluted semen. This result suggested that this male demonstrates superior performance in sperm competition, and exhibited a potential advantage in fertilization success. While the dominant male generally made a greater genetic contribution to most offspring, the degree of this advantage varied greatly, ranging from 11.11 to 75%. Furthermore, our study provided evidence of female preferences influenced the precedence of sperm from certain males over others. Interestingly, this bias is not consistently observed among all individuals, as offspring derived from some females were predominantly sired by an overall disadvantaged male while others were predominantly by a different disadvantaged male. Overall, these results underscored the complex processes involved in sperm selection and emphasized the importance of females in sexual selection theory.

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 400 bp 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 0.5 ng of DNA template and all unique alleles at a 1:4 DNA mixture ratio (0.2 ng 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.

The Latest Research Progress on Cell-Free DNA and Prospects of Its Forensic Application.

In recent years, with the continuous progress of DNA extraction and detection technology, cell-free DNA(cfDNA)has been widely used in the life science field, and its potential application value in forensic identification is becoming more and more obvious. This paper reviews the concept, formation mechanism, and classification of cfDNA, etc., and describes the latest research progress of cfDNA in personal identification of crime scene touch DNA samples and non-invasive prenatal paternity testing (NIPPT). Meanwhile, this paper summarizes the potential application of cfDNA in injury inference, and discusses the advantages and disadvantages of common cfDNA analysis methods and techniques, and its application prospects, to provide a new idea for the wide application of cfDNA in the field of forensic science.

Utilizing Massively Parallel Sequencing (MPS) of Human Leukocyte Antigen (HLA) Gene Polymorphism to Assess Relatedness in Deficiency Parentage Testing.

In the realm of DNA testing with legal implications, the reliability and precision of genetic markers play a pivotal role in confirming or negating paternity claims. This study aimed to assess the potential utility of human leukocyte antigen (HLA) gene polymorphism through massively parallel sequencing (MPS) technology as robust forensic markers for parentage testing involving genetic deficiencies. It sought to redefine the significance of HLA genes in this context. Data on autosomal short tandem repeat (aSTR) mutational events across 18 paternity cases involving 16 commonly employed microsatellite loci were presented. In instances where traditional aSTR analysis failed to establish statistical certainty, kinship determination was pursued via HLA genotyping, encompassing the amplification of 17 linked HLA loci. Within the framework of this investigation, phase-resolved genotypes for HLA genes were meticulously generated, resulting in the definition of 34 inherited HLA haplotypes. An impressive total of 274 unique HLA alleles, which were classified at either the field 3 or 4 level, were identified, including the discovery of four novel HLA alleles. Likelihood ratio (LR) values, which indicated the likelihood of the observed data under a true biological relationship versus no relationship, were subsequently calculated. The analysis of the LR values demonstrated that the HLA genes significantly enhanced kinship determination compared with the aSTR analysis. Combining LR values from aSTR markers and HLA loci yielded conclusive outcomes in duo paternity cases, showcasing the potential of HLA genes and MPS technology for deeper insights and diversity in genetic testing. Comprehensive reference databases and high-resolution HLA typing across diverse populations are essential. Reintegrating HLA alleles into forensic identification complements existing markers, creating a potent method for future forensic analysis.

The cuckoldry conundrum.

Concerns about cuckoldry are a dominant theme in evolutionary studies of mating, frequently used to explain sex differences in reproductive strategies. However, studies in nonhuman species have shown that cuckoldry can be associated with important benefits. These insights have not been well integrated with the human literature, which continues to focus on anticuckoldry tactics and negative repercussions for men. I evaluate two key assumptions central to human models of cuckoldry: (1) men are being tricked into investing in nonbiological offspring and (2) investment in nonbiological offspring is wasted. The ethnographic data on fatherhood shows that the concepts of pater and genitor are complex and locally constructed ideas that often include explicit knowledge of extra-pair paternity, countering the idea that nonpaternity results from trickery. Furthermore, rather than being a "waste," paternity loss can be associated with important gains for men, helping to explain why men invest in nonbiological offspring.

A possible case of offspring sex manipulation as result of a biased adult sex ratio.

Although random meiosis should prevent the facultative adjustment of offspring sex ratio, theory predicts that females should produce more of the sex with the higher reproductive value. We reported a case of offspring sex ratio manipulation in grass wrens Cistothorus platensis. Males in better body condition would have higher reproductive value than females due to the potential for social polygyny and extra-pair fertilizations. On the other hand, local demography influences reproductive strategies in grass wrens as male abundance affects both social polygyny and extra-pair paternity frequencies. We evaluated whether females bias their brood sex ratio in response to adult sex ratio and nestling body condition (a proxy for female's prospects of producing high-quality males). Females raised more male offspring when males were less abundant in the population (female-biased adult sex ratio). However, we found no relationship between nestling body condition and brood sex ratio, suggesting that females did not bias the brood sex ratio towards males when able to raise nestlings in better body condition. Taken together, our results provide the first suggestive evidence that female birds can manipulate their offspring sex ratio in response to the adult sex ratio.

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.

For the good of the children-Life and ethical values when undergoing paternal alienation and involuntary loss of paternity.

BACKGROUND AND AIM: Today there is an aspiration and desire for fathers to be caring masculinities that build long-term father-child relationships and emotional presence with their children. Previous research shows that life changes where fathers are deprived of the opportunity for equal parenting and close contact with their children affect the fathers' lives and mental health. The aim of this caring science study is thereby to gain a deeper understanding of life and ethical values when undergoing paternal alienation and experiencing involuntary loss of paternity. DESIGN, RESEARCH METHODS, AND PARTICIPANTS: The study has a qualitative design. The data collection was carried out in 2021 through individual in-depth interviews according to Kvale and Brinkmann. The five fathers who participated in the interviews had experiences of undergoing paternal alienation and involuntary loss of paternity. The interviews were analysed with a reflexive thematic analysis according to Braun and Clarke. RESULTS: Three main themes emerged. Putting yourself aside includes forgetting one's own needs and prioritising the children's and being the best version of oneself for them. In playing with the cards you have been dealt lies an acceptance of life as it has become and also a responsibility not to let the grief take over, by creating new patterns for everyday life and holding up hope. Keeping your dignity as a human being includes being heard, affirmed and consoled, and a form of re-awakening one's dignity as a human being. CONCLUSION: It is fundamental to understand the grief, longing and sacrifice that paternal alienation and involuntary loss of paternity cause human life and how every day can be a struggle to hold on to hope, find comfort and reconcile with the situation. The fundamental foundation that makes life worth living is love and responsibility for the good of the children.

Analysis of homozygous allele mismatches in paternity tests with massively parallel sequencing.

In paternity testing, short tandem repeats (STRs) allele mismatches are often detected. Nowadays, polymerase chain reaction- and capillary electrophoresis (CE)-based STR genotyping is the most commonly used method to distinguish alleles based on their length. However, it could not detect alleles of the same size with sequence differences. Massively parallel sequencing (MPS) can determine not only allele sizes but also sequences, which could explain the causes of allele mismatches. Additionally, more types of genetic markers can be detected in a single assay, which increases the discriminatory power and facilitates the analysis of paternity tests. In this study, we analyzed 11 cases with homozygous allele mismatches from routine DNA trio paternity tests using the CE platform. Samples were sequenced using the ForenSeq DNA Signature Prep Kit and the MiSeq FGx Sequencing System. The results show that of the eight father-child mismatch cases and three mother-child mismatch cases, five cases with D5S818 and D8S1179 and one case at D13S317 were classified as non-amplification. The other three cases and two cases could be defined as mutations. This study suggests that MPS-based STR genotyping can provide additional information that allows more accurate interpretation of allelic mismatches in paternity testing.

"O hoje afetando o amanhã": pesquisando gravidez na adolescência no cotidiano escolar / "Today affecting tomorrow": researching teenage pregnancy in everyday school life / "El hoy afecta al mañana": investigación del embarazo adolescente en la vida escolar diaria / «Le présent affecte le futur¼: recherche sur la grossesse des adolescentes dans la vie scolaire quotidienne

Resumo: Este artigo analisou o processo de construção e execução de uma pesquisa acerca da gravidez na adolescência com jovens do ensino médio no cotidiano de uma escola pública estadual de Fortaleza-CE, a partir de um estudo qualitativo com base na pesquisa-intervenção. Por meio de um curso de extensão para estudantes secundaristas, desenvolveu-se uma pesquisa na escola em que as próprias jovens da escola pública foram copesquisadoras do tema gravidez na adolescência no cotidiano escolar. Utilizou-se as ferramentas metodológicas de diários de campo, questionário on-line e restituição. Os resultados mostraram que há diferenças nos papéis de mãe e pai na adolescência, dificuldades para a conclusão da vida escolar e prejuízos na inserção no mercado de trabalho, principalmente para as meninas. Portanto, a pesquisa possibilitou problematizar o lugar de representatividade das pautas de maternidade e paternidade fomentando espaços de escuta e dialogicidade na promoção da equidade com estudantes que experienciam a maternidade e paternidade.

Abstract: This article aimed to analyze the process of constructing and conducting research on teenage pregnancy with high school students in the daily life of a public school in Fortaleza, Ceará, based on a qualitative study using the Intervention Research approach. By an extension course for high school students, a research project was developed in the school in which the public school students themselves were co-researchers on the topic of teenage pregnancy in the school environment. The methodological tools used were field journals, online questionnaires, and restitution. Results showed differences in the roles of the mother and father during adolescence, difficulties in completing education, and obstacles in entering the job market, especially for girls. Therefore, this research could question the representation of maternity and paternity issues, promoting spaces for listening and dialogue in the promotion of equity with students who experience parenthood.

Résumé : Cet article a analysé la construction et réalisation d'une recherche avec de lycéens sur la grossesse adolescente dans la vie quotidienne d'une école publique de Fortaleza-CE, dès une étude qualitative de recherche-intervention. Avec un cours d'extension pour des élèves du secondaire, une recherche a été menée où les élèves de l'école publique étaient co-chercheurs sur la grossesse adolescente dans l'école. Des journaux de terrain, des questionnaires en ligne et des restitutions ont été utilisés. Les résultats ont montré des différences dans les rôles de mère et de père pendant l'adolescence, des difficultés à mener à terme leur scolarité et des préjudices dans leur insertion sur le marché du travail, surtout pour les filles. Donc, la recherche a permis de questionner la représentativité des enjeux de maternité et de paternité, en favorisant des espaces d'écoute et de dialogue pour promouvoir l'équité avec les étudiants qui vivent la maternité et la paternité.

Resumen: Este artículo tuvo como objetivo analizar el proceso de construcción e implementación de una investigación con estudiantes de secundaria sobre el tema del embarazo adolescente en la vida cotidiana de una escuela pública de Fortaleza, Ceará (Brasil), basada en un estudio cualitativo de investigación-intervención. A partir de un curso de extensión, se desarrolló una investigación en la escuela donde las propias estudiantes de secundaria fueron coinvestigadoras sobre el tema del embarazo adolescente. Se utilizaron como herramientas metodológicas un cuestionario en línea, diario de campo y restitución. Los resultados mostraron diferencias en el papel de la madre y el padre durante la adolescencia, dificultades para completar la vida escolar y dificultades para entrar en el mercado laboral, especialmente para las chicas. Por lo tanto, esta investigación permitió problematizar el papel representacional de la maternidad y la paternidad, propiciando espacios de escucha y de diálogo para promover la equidad con los estudiantes que experimentan estos roles.

Fathering children aged from 2 to 10: psychometric properties of the IFI-BR-27 / Paternidade com filhos entre 2 e 10 anos de idade: propriedades psicométricas do IFI-BR-27 / Paternidad con hijos de entre 2 y 10 años: propiedades psicométricas del IFI-BR-27

The Inventory of Father Involvement (IFI) was developed to examine paternal involvement among men with children from 5 to 10 years of age. However, father involvement affects child development starting in the child's infancy. In Brazil, a revised version of the instrument (called the IFI-BR-27) was developed to use with fathers of children in a wider age group (2 to 10 years). Thus, in this study we aimed to investigate evidence for validity of this revised version based on internal structure, measurement invariance, and evidence of convergent validity. For this purpose, 572 Brazilian fathers completed a sociodemographic questionnaire, the IFI-BR-27, and either the Father Engagement Questionnaire (FEQ; for fathers of children in early childhood education settings) or the Inventory of Parenting Practices (IPP; for fathers of children in elementary school). Results of confirmatory factor analyses indicated the plausibility of a second-order internal structure for the IFI-BR-27 (χ 2 / df = 3.526; CFI = .937; TLI = .929; RMSEA = .066). Composite reliability for the nine factors varied from .65 to .84. Invariance analyses indicated that the structure is independent of the child's educational setting. Evidence of convergent validity was also found ( r = .67 - FEQ; r = .58 - IPP). Therefore, the IFI-BR-27 is an adequate tool to assess the quality of father involvement for fathers of children in preschool or elementary school. The IFI-BR-27 can contribute to further scientific research, aiding in longitudinal studies, as well as helping professionals to evaluate and encourage specific dimensions of father involvement.(AU)

O Inventory of Father Involvement (IFI) foi desenvolvido para avaliar o envolvimento paterno de homens com filhos de 5 a 10 anos. No entanto, envolvimento paterno afeta o desenvolvimento de crianças desde a primeira infância. No Brasil, uma versão revisada dessa medida (chamada de IFI-BR-27) foi desenvolvida para uso com pais de crianças em uma faixa etária mais ampla (2 a 10 anos). O objetivo deste estudo foi, portanto, investigar evidências de validade dessa versão revisada com base na estrutura interna, invariância de medida e evidências de validade convergente. Para isso, 572 pais brasileiros preencheram um questionário sociodemográfico, o IFI-BR-27 e o Questionário de Engajamento Paterno (QEP; para pais com filhos no Ensino Infantil) e o Inventário de Práticas Parentais (IPP; para pais com filhos no Ensino Fundamental 1). Os resultados de análises fatoriais confirmatórias indicaram a plausibilidade de uma estrutura interna de segunda ordem para o IFI-BR-27 (χ 2 / gl = 3,526; CFI = 0,937; TLI = 0,929; RMSEA = 0,066). A confiabilidade composta para os nove fatores variou de 0,65 a 0,84. Análises de invariância indicaram que a estrutura é independente do ciclo escolar da criança. Também foram encontradas evidências de validade convergente ( r = 0,67 - QEP; r = 0,58 - IPP). Assim, considera-se o IFI-BR-27 uma medida adequada para avaliar a qualidade do envolvimento paterno de pais de crianças do Ensino Infantil ao Fundamental 1. O IFI-BR-27 poderá contribuir para melhorias científicas, viabilizando estudos longitudinais e ajudando profissionais a avaliar e promover dimensões específicas do envolvimento paterno.(AU)

El Inventory of Father Involvement (IFI) se desarrolló para evaluar la participación paterna en la crianza de hijos de entre 5 y 10 años de edad. Es sabido que la participación paterna contribuye al desarrollo infantil desde la primera infancia. En Brasil, una versión brasileña de este instrumento (la IFI-BR-27) se desarrolló para aplicarse a padres con hijos de un grupo de edad más amplio (de 2 a 10 años). Este estudio tuvo por objetivo comprobar evidencia de validez de esta versión revisada con base en la estructura interna, la invariancia del instrumento y la evidencia de validez convergente. Para ello, 572 padres brasileños completaron un cuestionario sociodemográfico, el IFI-BR-27 y el Cuestionario de Involucramiento Paterno (CIP; para padres de niños en el jardín de infantes) y el Inventario de Prácticas Parentales (IPP; para padres de niños en la primaria). Los resultados de los análisis factoriales confirmatorios indicaron la plausibilidad de una estructura interna de segundo orden para el IFI-BR-27 (χ 2 / gl = 3,526; CFI = 0,937; TLI = 0,929; RMSEA =0,066). La confiabilidad compuesta para los nueve factores varió de 0,65 a 0,84. Los análisis de invariancia indicaron que la estructura es independiente del ciclo educativo del niño. También se encontró evidencia de validez convergente ( r =0,67 - CIP; r = 0,58 - IPP). Por lo tanto, el IFI-BR-27 es un instrumento adecuado para evaluar la calidad de participación paterna de padres con hijos en edad preescolar o en la primaria. El IFI-BR-27 permitirá un mayor desarrollo científico, permitiendo estudios longitudinales y ayudando a los profesionales a evaluar y fomentar dimensiones específicas de participación paterna.(AU)

Construction and evaluation of a novel set of 90 microhaplotypes for forensic applications using NGS technology.

Microhaplotypes (MHs), small sets of linked single nucleotide polymorphisms (SNPs), are becoming a valuable tool for paternity testing, personal identification and other different forensic purposes due to their advantages of both short tandem repeats (STRs) and SNPs. However, only a small part of MHs with small segments have been developed and reported so far. And the current population genetic data of MHs are still insufficient. MHs with small segments possess unique advantages in mixture deconvolution, degradation material identification, noninvasive prenatal paternity testing and even medical tumor diagnostic applications. In the present study, a set of 90 autosomal MHs whose PCR amplicon lengths are from 90-150 bp, of which 58 MHs are less than or equal to 100 bp are selected, and assembled into an amplification multiplex system optimized for Ion S5™ System for forensic application. Genetic diversity study of 90 MHs in the populations from different intercontinental regions shows that the polymorphism information content (PIC) values of 83 MHs are greater than 0.4 in populations from East Asia (EAS), and the average PIC value of 90 MHs is greater than 0.5. A total of EAS populations shows the highest cumulative match probability (CMP) and cumulative probability of exclusion (CPE) values in five intercontinental populations. The CMP and CPE values of 90 MHs in EAS are 1.1688 × 10-54 and 0.999999999998954. The informativeness for assignment (In) values of the 90 MHs are calculated based on data from five intercontinental populations, and the In values of 20 MHs have greater than 0.1, indicating that the 20 MHs are high effectiveness in distinguishing different intercontinental populations, which can be used as candidate ancestry informative markers. Further, we have studied the polymorphisms of the 90 MHs based on 224 unrelated individuals of Henan Han population, China, and obtained the frequency data of the 90 MHs. In the Henan Han population, the effective number of alleles (Ae) of the 90 MHs ranges from 1.7649 (MH45) to 3.9792 (MH50), and the Ae values of 10 MHs reach to 3.0; the Ae values of 80 MHs are greater than 2, and the average Ae value for these MHs is 2.422. The average expected heterozygosity, observed heterozygosity, PIC, matching probability, discrimination power and probability of exclusion values of 90 MHs in the Henan Han population are 0.5788, 0.5851, 0.5039, 0.2608, 0.7392 and 0.2806, respectively. The CMP value of 90 MHs in the study population is less than 10-54, and their CPE value reaches 0.999999999999999923. Moreover, the results of the depth of coverage, allele coverage ratio and noise level indicate that the 90 MH amplification system has well sequencing performance, and the sequencing results are reliable. The results indicate the 90 MHs show higher polymorphisms in the study population. The present panel can be well used in paternity testing and individual identification in the study population and even the populations from EAS.

Maternal uniparental disomy of chromosome 21 as a cause of pseudo-exclusion from paternity.

Uniparental disomy (UPD) is a rare chromosomal condition, which apart from its importance in medical genetics can affect an outcome of parentage DNA testing, often causing pseudo exclusions. We describe a case of trio paternity test using 24 informative STR loci with potential exclusion at 2 systems located on chromosome 21. Consequent genotyping of an additional 25 autosomal and 27 Y-specific STRs revealed one other inconsistency, also located on this chromosome. All three inconsistent markers had the same heteroallelic state between the child and the biological mother providing evidence for maternal heterodisomy of chromosome 21. The case highlights the importance of considering UPD as a cause of genetic inconsistencies, especially when the inconsistent marker systems are located on the same chromosome.

Therapeutic exposures and pubertal testicular dysfunction are associated with adulthood milestones and paternity after childhood cancer.

BACKGROUND: Childhood cancer therapy may cause long-term effects. This cross-sectional study evaluated adulthood milestones in male childhood cancer survivors (CCS). METHODS: The study population comprised 252 male CCS with 6 to 42 years of survival diagnosed at the Children's Hospital in Helsinki (1964-2000) at the age of 0 to 17 years. Sex-, age-, and area of residence-matched population controls were randomly selected from the Finnish national registries. Data on moving away from the parental home, marital status, offspring, and adoption in CCS were compared with the population controls. We analyzed the influence of chemotherapy and radiation exposures and testicular dysfunction (ever nontestosterone-substituted serum follicle stimulating hormone >15 IU/L, luteinizing hormone >15 IU/L, testosterone <2 ng/mL (5 nmol/L), need of testosterone replacement therapy, or testicular volume <12 mL at the end of puberty) during pubertal maturation on long-term social outcomes. RESULTS: CCS moved away from their parental home as frequently as population controls (97.8% vs. 98.5%, p = .45). CCS were less likely to marry or live in a registered relationship (46.4% vs. 57.5%, p < .001), especially when diagnosed at a young age (<4 years). Among those married, the probability of divorce was similar between CCS and population controls (27.4% vs. 23.8%, p = .41). Survivors were less likely to sire a child (38.5% vs. 59.1%, p < .001) and more likely to adopt (2% vs. 0.4%, p = .015). Lower probability of paternity was associated with hematopoietic stem cell therapy, testicular radiation dose >6 Gy, pubertal signs of testicular dysfunction (nontestosterone-substituted serum follicle stimulating hormone >15 IU/L, luteinizing hormone  >15 IU/L, testosterone <2 ng/mL (5 nmol/L), or need of testosterone replacement therapy during puberty, or testicular volume <12 mL at the end of puberty) or azoospermia after puberty. CONCLUSIONS: This study emphasizes the value of pubertal monitoring of testicular function to estimate future probability of paternity. If no signs of dysfunction occurred during pubertal follow-up, paternity was comparable to population controls. Testicular radiation dose >6 Gy appeared to be the strongest risk factor for decreased paternity. PLAIN LANGUAGE SUMMARY: Treatment with intensive therapies, including hematopoietic stem cell therapy, testicular radiation dose >6 Gy, and signs of testicular dysfunction, during puberty are important risk factors for lower rates of fertility. Intensive therapies and testicular dysfunction itself do not similarly hamper psychosocial milestones in adulthood; cancer diagnosis at a very young age (<4 years) lower the probability of marriage. This study accentuates the importance of monitoring of pubertal development, emphasizing on testicular function, not only sperm analysis, to estimate future fertility among male childhood cancer survivors.

Paternity data reveal high MHC diversity among sires in a polygynandrous, egalitarian primate.

Evidence from human and nonhuman primates suggests that females avoid breeding with close kin and may choose mates based on MHC diversity, which can improve offspring survival. In despotic societies, female mate choice may be hindered by male sexual coercion, but in egalitarian societies, females may be less constrained. Among northern muriquis-an egalitarian, polygynandrous primate with male philopatry-analyses of new data on paternity and variation at microsatellite and MHC loci, combined with behavioural and life-history data, revealed that sires showed higher MHC diversity than expected by chance and were never close kin of dams, consistent with predictions of female mate choice and close inbreeding avoidance. However, females did not differentially reproduce with males who were more distantly related to them or more dissimilar at the MHC than expected by chance, nor with those who had more MHC alleles distinct from their own. The lack of male dominance may permit females to identify and reproduce preferentially with non-offspring males and with males who are more diverse at the MHC. Nonetheless, the absence of disassortative mating at the MHC and neutral loci suggests that female mate choice may be limited by other factors impacting male fertilization success.

Genetic polymorphism and forensic efficiency of 21 autosomal STR loci from Shandong Han population in Northern China.

BACKGROUND: Highly polymorphic autosomal STR loci are useful for understanding population structure better and for forensic application, however the non-CODIS STR loci in the Han population of Shandong, located in Northern China, are not well-characterised. AIM: To investigate population genetic polymorphism and forensic efficiency of 21 autosomal STR loci from the Shandong Han population in Northern China and reveal the genetic relationships with other populations both at home and abroad. SUBJECTS AND METHODS: In this study, population genetic data of 21 autosomal STR loci included in the Goldeneye DNA ID 22NC Kit that includes four CODIS loci and 17 non-CODIS loci were determined for 523 unrelated Han individuals in Shandong. RESULTS: Significant deviations from Hardy-Weinberg equilibrium were not observed. A total of 233 alleles were detected with allele frequencies ranging from 0.0010 to 0.3728. The combined power of discrimination was 0.99999999999999999999999990011134, and the combined power of exclusion was 0.99999999788131. Furthermore, in an analysis of population differentiation Nei's standard genetic distance and multidimensional scaling analysis, which were conducted based on the overlapping 15 STR loci, revealed that the Shandong Han population was most closely related to populations in close geographic proximity. CONCLUSIONS: This study demonstrated that the 21 autosomal STR loci included in the GoldeneyeTM DNA ID 22NC system are highly polymorphic and suitable for forensic identification and paternity testing in the Shandong Han population. Additionally, the present results enrich the population genetic database.

A posteriori parameters from paternity tests of a Mexican laboratory with the powerplex fusion system.

Population studies regarding Human identification (HID) systems report a priori forensic parameters, but rarely they describe a posteriori parameters from concluded paternity tests. We analyzed data from the PowerPlex® Fusion System in 1503 paternity tests from a Mexican laboratory for five years (2016-2020). The motherless duo paternity tests (89.8%) were more frequent than the standard trio tests (10.2%). A notable increase in motherless tests was noted regarding our previous report (89.8% vs 77.3%), probably explained by the COVID-19 pandemic. The estimated exclusion frequency in Mexico ranged from 30.1 (trio) to 32.1% (duo). For paternity exclusions, we report the number of mismatches and the frequency at which each STR was involved. The PowerPlex® Fusion system showed more than five mismatches in 100% of the standard trio tests excluding paternity, and the majority of motherless-duo tests (98.1%). In positive paternity tests, PowerPlex® Fusion offered a higher combined paternity index (PI) (average 1.18 E + 10) regarding HID systems with 15 and 20 STRs, even without the inclusion of the Y-linked locus DYS391 to the kinship interpretation. Individual and global STR mutation rates were estimated from 17 paternal mutations (µ = 0.0017), the majority involving a single-step mutation (94.11%). Five independent null alleles were detected, most of them involving the Penta E locus (80%), which suggests caution to the users working with DNA databases or kinship analysis, to avoid false exclusions with Penta E. In brief, our results provide a better overview of a posteriori informativeness offered by the PowerPlex® Fusion system for paternity testing in Mexico.

Low-Pass Genome Sequencing-Based Detection of Paternity: Validation in Clinical Cytogenetics.

Submission of a non-biological parent together with a proband for genetic diagnosis would cause a misattributed parentage (MP), possibly leading to misinterpretation of the pathogenicity of genomic variants. Therefore, a rapid and cost-effective paternity/maternity test is warranted before genetic testing. Although low-pass genome sequencing (GS) has been widely used for the clinical diagnosis of germline structural variants, it is limited in paternity/maternity tests due to the inadequate read coverage for genotyping. Herein, we developed rapid paternity/maternity testing based on low-pass GS with trio-based and duo-based analytical modes provided. The optimal read-depth was determined as 1-fold per case regardless of sequencing read lengths, modes, and library construction methods by using 10 trios with confirmed genetic relationships. In addition, low-pass GS with different library construction methods and 1-fold read-depths were performed for 120 prenatal trios prospectively collected, and 1 trio was identified as non-maternity, providing a rate of MP of 0.83% (1/120). All results were further confirmed via quantitative florescent PCR. Overall, we developed a rapid, cost-effective, and sequencing platform-neutral paternity/maternity test based on low-pass GS and demonstrated the feasibility of its clinical use in confirming the parentage for genetic diagnosis.