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In this study, we proposed a deep learning (DL) model for classifying individuals from mixtures of DNA samples using 27 short tandem repeats and 94 single nucleotide polymorphisms obtained through massively parallel sequencing protocol. The model was trained/tested/validated with sequenced data from 6 individuals and then evaluated using mixtures from forensic DNA samples. The model successfully identified both the major and the minor contributors with 100% accuracy for 90 DNA mixtures, that were manually prepared by mixing sequence reads of 3 individuals at different ratios. Furthermore, the model identified 100% of the major contributors and 50-80% of the minor contributors in 20 two-sample external-mixed-samples at ratios of 1:39 and 1:9, respectively. To further demonstrate the versatility and applicability of the pipeline, we tested it on whole exome sequence data to classify subtypes of 20 breast cancer patients and achieved an area under curve of 0.85. Overall, we present, for the first time, a complete pipeline, including sequencing data processing steps and DL steps, that is applicable across different NGS platforms. We also introduced a sliding window approach, to overcome the sequence length variation problem of sequencing data, and demonstrate that it improves the model performance dramatically.
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ADN/genética , Aprendizaje Profundo , Análisis de Secuencia de ADN/métodos , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Humanos , Polimorfismo de Nucleótido SimpleRESUMEN
This study examined the peer victimization trajectory and maladjustment outcomes among early Taiwanese adolescents. Data were extracted from a large-scale longitudinal study with a national representative sample. A total of 1691 school students in 4th, 6th, and 8th grade were analyzed. Using latent profile analysis, students were classified into four trajectories, chronic victims, late onset victims, desisters, and non-victims, based on their self-reported physical and verbal victimization at three time points. Maladjustment, including psychological distress, reduced school attachment, internet addiction, and suicidal ideation in 8th grade, were assessed. The results showed significant differences in adjustment among students in the four trajectories. Chronic victims had the poorest outcomes on most variables, followed by late onset victims and desisters, while non-victims had the least maladjustment. The findings highlight the need for future interventions that would consider students' victim status over time and pay particular attention to those who suffer constant bullying and abuse.
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The application of massively parallel sequencing (MPS) data from whole genomes has allowed very many more Y-SNP loci to be genotyped simultaneously than previously possible. Although this greatly increases the resolution of Y-SNP haplogroups to link common ancestors, it remains a great challenge to provide a phylogenetic tree to clearly display the relationship of varying haplogroups. Y-SNP Haplogroup Hierarchy Finder is a web tool to generate hierarchical haplogroups based on Y-SNP data with the derived allele at the terminal of a haplogroup tree. The input data can include that from whole-genome sequencing. Confidence in assignment using Y-SNP Haplogroup Hierarchy Finder was demonstrated using Y-SNP genotypes of 1233 samples, sourced from the 1000 genomes project phase 3, used to generate the expected haplogroups. The outcome includes 2 reports: a 'Haplogroup Report' lists mutation types from the submitted Y-SNPs and their corresponding haplogroups, and a 'Haplogroup Hierarchy Report' lists all possible hierarchical haplogroups and ranks the three most supported haplogroups. Each layer of the descending haplogroups from one step to the next is shown and the supporting numbers of Y-SNPs are also included in these reports. All haplogroups that exhibited a clear relationship between the ancestral through to the derived SNPs can be clustered into a hierarchy of haplogroups. The assigned 1233 haplogroups were compared with 2 other software programs designed to assemble haplogroups, which resulted in one where there were many differences and the other one where there was only minor difference. The advantage of this web-based tool is that it provides an easy way to assign Y-SNP haplogroup based on the visualized hierarchical pattern.
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Cromosomas Humanos Y , Polimorfismo de Nucleótido Simple , Haplotipos/genética , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , FilogeniaRESUMEN
In forensic toxicology, a marker of street heroin use is urgent especially in the absence of urinary 6-monoacetylmorphine. ATM4G, the Glucuronide of Acetylated product of Thebaine compound 4 Metabolite (ATM4), arising from byproducts of street heroin synthesis has been considered as a useful marker in some European studies. However, whether ATM4G is a universal marker particularly in Southeast Asia due to 'street' heroin with high purity, it's still unclear. To investigate putative markers for different regions, ATM4G and other metabolites including the Acetylated product of Thebaine compound 3 Metabolite (ATM3) and thebaol, also originated from thebaine were detected in 552 urine samples from heroin users in Taiwan. Results were compared with that from samples collected in the UK and Germany. Only a sulfo-conjugate of ATM4, ATM4S, was detected in 28 Taiwanese users using a sensitive MS3 method whilst out of 351 samples from the UK and Germany, ATM4G was present in 91. Thebaol-glucuronide was first time detected in 118. No markers were detected in urine following herbal medicine use or poppy seed ingestion. The presence of ATM4S/ATM4G might be affected by ethnicities and heroin supplied in regions. Thebaol-glucuronide is another putative marker with ATM4G and ATM4S for street heroin use.
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Toxicología Forense/métodos , Glucurónidos/orina , Heroína/metabolismo , Detección de Abuso de Sustancias/métodos , Asia Sudoriental , Europa (Continente) , Cromatografía de Gases y Espectrometría de Masas/métodos , Heroína/orina , Humanos , Derivados de la Morfina/orina , Tebaína/orinaRESUMEN
OBJECTIVES: Previously developed methods in subadult body mass estimation have not been tested in populations other than European-American or African-American. This study uses a contemporary Taiwanese sample to test these methods. Through evaluating their accuracy and bias, we addressed whether the allometric relationships between body mass and skeletal traits commonly used in subadult body mass estimation are conserved among different populations. MATERIALS AND METHODS: Computed tomography scans of lower limbs from individuals aged 0-17 years old of both sexes were collected from National Taiwan University Hospital along with documented body weight. Polar second moment of area, distal femoral metaphyseal breadth, and maximum superior/inferior femoral head diameter were collected either directly from the scans or from reconstructed 3D models. Estimated body mass was compared with documented body mass to assess the performance of the equations. RESULTS: Current methods provided good body mass estimates in Taiwanese individuals, with accuracy and bias similar to those reported in other validation studies. A tendency for increasing error with increasing age was observed for all methods. Reduced major axis regression showed the allometric relationships between different skeletal traits and body mass across different age categories can all be summarized using a common fitted line. A revised, maximum likelihood-based approach was proposed for all skeletal traits. DISCUSSION: The results suggested that the allometric relationships between body mass and different skeletal traits are largely conserved among populations. The revised method provided improved applicability with strong underlying theoretical justifications, and potential for future improvements.
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Fémur , Tomografía Computarizada por Rayos X , Adolescente , Peso Corporal , Niño , Preescolar , Femenino , Fémur/diagnóstico por imagen , Humanos , Lactante , Recién Nacido , Funciones de Verosimilitud , Masculino , TaiwánRESUMEN
Multipotent human mesenchymal stem cells (MSCs) harbor clinically relevant immunomodulation, and HLA-G, a non-classical MHC class I molecule with highly restricted tissue expression, is one important molecule involved in these processes. Understanding of the natural regulatory mechanisms involved in expression of this elusive molecule has been difficult, with near exclusive reliance on cancer cell lines. We therefore studied the transcriptional control of HLA-G in primary isolated human bone marrow- (BM), human embryonic stem cell-derived (hE-), as well as placenta-derived MSCs (P-MSCs), and found that all 3 types of MSCs express 3 of the 7 HLA-G isoforms at the gene level; however, fibroblasts did not express HLA-G. Protein validation using BM- and P-MSCs demonstrated expression of 2 isoforms including a larger HLA-G-like protein. Interferon-γ (IFN-γ) stimulation upregulated both gene and protein expression in MSCs but not the constitutively expressing JEG-3 cell line. Most interestingly in human MSCs and placental tissue, hypomethylation of CpG islands not only occurs on the HLA-G proximal promoter but also on the gene body as well, a pattern not seen in either of the 2 commonly used choriocarcinoma cell lines which may contribute to the unique HLA-G expression patterns and IFN-γ-responsiveness in MSCs. Our study implicates the importance of using normal cells and tissues for physiologic understanding of tissue-specific transcriptional regulation, and highlight the utility of human MSCs in unraveling the transcriptional regulation of HLA-G for better therapeutic application.
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Células de la Médula Ósea/metabolismo , Metilación de ADN/genética , ADN/metabolismo , Células Madre Embrionarias/metabolismo , Antígenos HLA-G/metabolismo , Células Madre Mesenquimatosas/metabolismo , Placenta/citología , Azacitidina/farmacología , Línea Celular Tumoral , Islas de CpG , Metilación de ADN/efectos de los fármacos , Desmetilación/efectos de los fármacos , Femenino , Fibroblastos/metabolismo , Regulación de la Expresión Génica/efectos de los fármacos , Regulación de la Expresión Génica/genética , Antígenos HLA-G/genética , Humanos , Interferón gamma/farmacología , Placenta/metabolismo , Embarazo , Regiones Promotoras Genéticas , Isoformas de Proteínas , Espectrometría de Masas en TándemRESUMEN
Massively parallel sequencing (MPS) technologies enable the simultaneous analysis of short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs). MPS also enables the detection of alleles of the minor contributors in imbalanced DNA mixtures. In this study, 59 STRs (amelogenin, 27 autosomal STRs, 7 X-STRs, and 24 Y-STRs) and 94 identity-informative SNPs of 119 unrelated Taiwanese (50 men, 69 women) were sequenced using a commercial MPS kit. Forty-eight nondegraded and 44 highly degraded two-person artificial DNA mixtures with various minor to major ratios (1:9, 1:19, 1:29, 1:39, 1:79, and 1:99) were analyzed to examine the performance of this system for detecting the alleles of the minor contributors in DNA mixtures. Likelihood ratios based on continuous model were calculated using the EuroForMix for DNA mixture interpretation. The STR and SNP genotypes of these 119 Taiwanese were obtained. Several sequence variants of STRs were observed. Using EuroForMix software based on the sequence data of autosomal STRs and autosomal SNPs, 97.9% (47/48) and 97.7% (42/43) of minor donors were accurately inferred among the successfully analyzed nondegraded and degraded DNA mixtures, respectively. In conclusion, combined with EuroForMix software, this commercial kit is effective for assignment of the minor contributors in nondegraded and degraded DNA mixtures.
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Degradación Necrótica del ADN , Secuenciación de Nucleótidos de Alto Rendimiento/instrumentación , Análisis de Secuencia de ADN/instrumentación , Programas Informáticos , Pueblo Asiatico/genética , Dermatoglifia del ADN , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Funciones de Verosimilitud , Masculino , Repeticiones de Microsatélite , Polimorfismo de Nucleótido SimpleRESUMEN
Single nucleotide polymorphism (SNP) profiling is an effective means of individual identification and ancestry inferences in forensic genetics. This study established a SNP panel for the simultaneous individual identification and ancestry assignment of Caucasian and four East and Southeast Asian populations. We analyzed 220 SNPs (125 autosomal, 17 X-chromosomal, 30 Y-chromosomal, and 48 mitochondrial SNPs) of the DNA samples from 563 unrelated individuals of five populations (89 Caucasian, 234 Taiwanese Han, 90 Filipino, 79 Indonesian and 71 Vietnamese) and 18 degraded DNA samples. Informativeness for assignment (In) was used to select ancestry informative SNPs (AISNPs). A machine learning classifier, support vector machine (SVM), was used for ancestry assignment. Of the 220 SNPs, 62 were individual identification SNPs (IISNPs) (51 autosomal and 11 X-chromosomal SNPs) and 191 were AISNPs (100 autosomal, 13 X-chromosomal, 30 Y-chromosomal, and 48 mitochondrial SNPs). The 51 autosomal IISNPs offered cumulative random match probabilities (cRMPs) ranging from 1.56 × 10-21 to 3.16 × 10-22 among these five populations. Using AISNPs with the SVM, the overall accuracy rate of ancestry inference achieved in the testing dataset between Caucasian, Taiwanese Han, and Filipino populations was 88.9%, whereas it was 70.0% between Caucasians and each of the four East and Southeast Asian populations. For the 18 degraded DNA samples with incomplete profiling, the accuracy rate of ancestry assignment was 94.4%. We have developed a 220-SNP panel for simultaneous individual identification and ethnic origin differentiation between Caucasian and the four East and Southeast Asian populations. This SNP panel may assist with DNA analysis of forensic casework.
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Pueblo Asiatico/genética , Dermatoglifia del ADN/métodos , Genética de Población , Aprendizaje Automático , Polimorfismo de Nucleótido Simple , Asia , Cromosomas Humanos X , Cromosomas Humanos Y , Degradación Necrótica del ADN , ADN Mitocondrial , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Masculino , Estudios Retrospectivos , Máquina de Vectores de Soporte , Población Blanca/genéticaRESUMEN
Ancestry informative single-nucleotide polymorphism (AISNP) panels for differentiating between East and Southeast Asian populations are scarce. This study aimed to identify AISNPs for ancestry assignment of five East and Southeast Asian populations, and Caucasians. We analyzed 145 autosomal SNPs of the 627 DNA samples from individuals of six populations (234 Taiwanese Han, 91 Filipinos, 79 Indonesians, 60 Thais, 71 Vietnamese, and 92 Caucasians) using arrays. The multiple logistic regression model and a multi-tier approach were used for ancestry classification. We observed that 130 AISNPs were effective for classifying the ethnic origins with fair accuracy. Among the 130 AISNPs, 122 were useful for stratification between these five Asian populations and 64 were effective for differentiating between Caucasians and these Asian populations. For differentiation between Caucasians and Asians, an accuracy rate of 100% was achieved in these 627 subjects with 50 optimal AISNPs among the 64 effective SNPs. For classification of the five Asian populations, the accuracy rates of ancestry inference using 20 to 57 SNPs for each of the two Asian populations ranged from 74.1% to 100%. Another 14 degraded DNA samples with incomplete profiling were analyzed, and the ancestry of 12 (85.7%) of those subjects was accurately assigned. We developed a 130-AISNP panel for ethnic origin differentiation between the five East and Southeast Asian populations and Caucasians. This AISNP set may be helpful for individual ancestral assignment of these populations in forensic casework.
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Pueblo Asiatico/genética , Polimorfismo de Nucleótido Simple , Población Blanca/genética , Asia , Etnicidad/genética , Femenino , Genotipo , Humanos , Masculino , Estudios RetrospectivosRESUMEN
Students with physical symptoms and diseases may be at an increased risk of peer victimization. This study examined the associations of several medical conditions (obesity, asthma, allergy, epilepsy, and diabetes) with experience of physical, verbal, and relational victimization among children. A sample of 6,233 fourth-grade students from 314 elementary schools in Taiwan was recruited for the analysis. The mean age of the sample was 10.5, with an even distribution of gender (50.3% male and 49.7% female). Children with asthma, allergy, and epilepsy reported higher frequencies of peer victimization. Those who took daily medications or received treatment were also at a higher risk of being victimized. Diabetes and obesity were not found to be associated with peer victimization. The findings highlighted that children with physical conditions suffer maltreatment from peers. Sensitivity training should be provided to school health professionals, so they can evaluate the risk of victimization among students with special needs during assessment.
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Acoso Escolar/estadística & datos numéricos , Enfermedad Crónica/psicología , Obesidad Infantil/psicología , Grupo Paritario , Asma/psicología , Niño , Víctimas de Crimen/estadística & datos numéricos , Diabetes Mellitus/psicología , Epilepsia/psicología , Femenino , Humanos , Hipersensibilidad/psicología , Estudios Longitudinales , Masculino , Factores de Riesgo , Encuestas y Cuestionarios , TaiwánRESUMEN
Single nucleotide polymorphism (SNP) typing offers promise to forensic genetics. Various strategies and panels for analyzing SNP markers for individual identification have been published. However, the best panels with fewer identity SNPs for all major population groups are still under discussion. This study aimed to find more autosomal SNPs with high heterozygosity for individual identification among Asian populations. Ninety-six autosomal SNPs of 502 DNA samples from unrelated individuals of five population groups (208 Taiwanese Han, 83 Filipinos, 62 Thais, 69 Indonesians, and 80 individuals with European, Near Eastern, or South Asian ancestry) were analyzed using arrays in an initial screening, and 75 SNPs (group A, 46 newly selected SNPs; groups B, 29 SNPs based on a previous SNP panel) were selected for further statistical analyses. Some SNPs with high heterozygosity from Asian populations were identified. The combined random match probability of the best 40 and 45 SNPs was between 3.16 × 10(-17) and 7.75 × 10(-17) and between 2.33 × 10(-19) and 7.00 × 10(-19), respectively, in all five populations. These loci offer comparable power to short tandem repeats (STRs) for routine forensic profiling. In this study, we demonstrated the population genetic characteristics and forensic parameters of 75 SNPs with high heterozygosity from five population groups. This SNPs panel can provide valuable genotypic information and can be helpful in forensic casework for individual identification among these populations.
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Etnicidad/genética , Genética de Población , Técnicas de Genotipaje , Polimorfismo de Nucleótido Simple , Grupos Raciales/genética , ADN/genética , Dermatoglifia del ADN , Frecuencia de los Genes , Proyecto Mapa de Haplotipos , Heterocigoto , Humanos , Estudios RetrospectivosRESUMEN
A bubble-based acoustofluidic filtration (BAF) microfluidic device, which employs cross-flow filtration (CFF) and acoustic streaming, separates cells with high efficiency for forensic analysis. Forensic samples are typically complex and contain a substantial number of squamous epithelial cells from the female vagina, which tend to have fouling problems during filtration due to their morphological and cell adhesion differences. To overcome this issue, the BAF device utilizes bubble oscillation by bulk acoustic wave (BAW) to generate acoustic streaming, which offers additional hydrodynamic forces for side flushing cleaning and achieves effective removal within a mere 0.5 seconds. Our device is tested with imbalanced cell mixtures of sperm and epithelial cells with large disparity ratios. By concurrently employing CFF and acoustic streaming, the samples with our sperm-enrichment can achieve 91.72-97.78% for the recovery rate and 74.58-89.26% for the purity in the sperm enrichment. They are further subjected to short tandem repeat (STR) profiling, enabling the identification of perpetrators. Notably, even samples with minimal sperm cells demonstrated a significant increase in the male donor DNA ratio, while the peak heights of female alleles became virtually undetectable. The exceptional cell separation capability demonstrated by our BAF device highlights its potential applications in forensic sciences and other areas of cell biology.
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Semen , Espermatozoides , Masculino , Humanos , Femenino , Acústica , Sonido , Repeticiones de MicrosatéliteRESUMEN
This study details the differentiation of identical twins based on single mutational base differences. There were three pairs of male monozygotic (MZ) twins in this study. DNA samples from blood, a buccal swab or saliva from each individual were all initially genotyped using 22 autosomal STR and 27 Y-STR loci. Preliminary screening confirmed there were no differences in the STR data between each pair of MZ twins. Whole Genome Sequence (WGS) data were generated from DNA extracted from the three body fluids from each individual. Kinship coefficients with 0.4254, 0.4557 and 0.4543 from 3 twins were generated based on WGS data to further confirm that their relationship was that of MZ twins. The fastq data generated by the Illumina Hiseq 2000 between MZ twins were then treated as "normal" as opposed to "tumor" using commercially available software tools to identify mutational single base changes. Sanger DNA sequencing confirmed there were 1, 5 and 9 single base changes found in WGS data from each of the three MZ twin sets. There was individual variation in the mutational base changes when comparing data from the three body fluids. The methods used in this study to differentiate MZ twins based on WGS data can readily be performed in many operational forensic DNA laboratories using user friendly software.
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ADN , Gemelos Monocigóticos , Humanos , Masculino , Metilación de ADN , Mutación , Análisis de Secuencia de ADN , Gemelos Monocigóticos/genéticaRESUMEN
BACKGROUND: Fertility-sparing surgery (FSS) is an alternative choice of young patients who have not completed their family planning and still have fertility needs. The aims of this study were to compare the outcomes of early-stage epithelial ovarian cancer (EOC) patients undergoing FSS and radical comprehensive staging surgery (RCS), and the suitability of FSS. METHODS: A total of 1297 patients aged between 20 and 44 years with newly diagnosed early-stage EOC were recruited from the Taiwan Cancer Registry database between 2009 and 2017. Site-specific surgery codes were used to distinguish patients in FSS group or RCS group. Cancer-specific survival (CSS) was evaluated using Kaplan-Meier method with log-rank test and Cox regression model. RESULTS: There were 401 and 896 patients in FSS and RCS group. Patients in FSS group were with younger age and mostly had Stage I disease. In contrast, patients in RCS group were older. There were more Stage II, high-grade (Grade 3) disease, and adjuvant chemotherapy in RCS group. Stage and tumor grade were two independent factors correlating with CSS and the type of surgery showed no effect on CSS (HR: 1.09, 95% CI: 0.66-1.77, p = 0.73) in multivariable analysis. In multivariable analysis, the clear cell carcinoma group who underwent FSS demonstrated better CSS compared to those in the RCS group (HR: 0.28, 95% CI: 0.06-0.82, p = 0.04). A total of 17 women who underwent FSS developed second malignancies of the uterine corpus or contralateral ovary. CONCLUSION: FSS can be a safe alternative procedure in selected young patients of Stage I EOC who have fertility desire. Endometrial biopsy before or during FSS and regular surveillance to detect recurrence are mandatory for ovarian cancer patients undergoing FSS.
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Preservación de la Fertilidad , Neoplasias Ováricas , Humanos , Femenino , Adulto Joven , Adulto , Estudios Retrospectivos , Carcinoma Epitelial de Ovario/cirugía , Carcinoma Epitelial de Ovario/patología , Neoplasias Ováricas/epidemiología , Neoplasias Ováricas/cirugía , Neoplasias Ováricas/tratamiento farmacológico , Estadificación de NeoplasiasRESUMEN
BACKGROUND: Little is known about the patterns of child maltreatment change over time and vary according to gender and child protective services (CPS) experience in Taiwan. OBJECTIVE: To examine the latent status and the trajectories of child maltreatment and to identify effects that gender and CPS have on these statuses and trajectories in Taiwan. PARTICIPANTS AND SETTING: A national proportionately stratified sample of 6233 4th-grade students were recruited from 314 elementary schools in Taiwan, and followed up at 6th and 8th graders. A total of 1908 students completed valid data at all three time points was analyzed. METHODS: Latent class analysis and latent transition analysis were used to identify the number of latent variables and the patterns of child maltreatment. Multiple-group model was used to test with gender difference. RESULTS: Four latent maltreatment statuses were identified: high all maltreatment, high psychological maltreatment, high neglect, and no/low maltreatment. A reduction in maltreatment severity occurred over time was found. The percentage of students in the "high all maltreatment" and "high neglect" groups decreased whereas those in the "high psychological maltreatment" and "no/low maltreatment" groups increased. Differences in the transition probabilities of latent maltreatment status by gender was revealed. The percentage of CPS recipients in the "high all maltreatment" decreased over time. CONCLUSIONS: This study highlighted the dynamic nature of child maltreatment and described the timing, continuity, and change that characterizes children's exposure to maltreatment in Taiwan. Policies and interventions geared toward early detection, mitigation, and prevention of child maltreatment are needed.
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Maltrato a los Niños , Humanos , Niño , Estudios Longitudinales , Taiwán/epidemiología , Maltrato a los Niños/psicología , Escolaridad , Análisis de Clases LatentesRESUMEN
The analysis of autosomal short tandem repeat (STR) loci is a powerful tool in forensic genetics. We developed a multiplex system in which 15 non-Combined DNA Index System autosomal STRs (D3S1744, D4S2366, D8S1110, D10S2325, D12S1090, D13S765, D14S608, Penta E, D17S1294, D18S536, D18S1270, D20S470, D21S1437, Penta D, and D22S683) could be amplified in one single polymerase chain reaction. DNA samples from 1,098 unrelated subjects of nine population groups living in Taiwan, including Taiwanese Han, indigenous Taiwanese of Taiwan Island, Tao, mainland Chinese, Filipinos, Thais, Vietnamese, Indonesians, and Caucasians, were collected and analyzed using this system. The distributions of the allelic frequencies and the forensic parameters of each population group were presented. The combined discrimination power and the combined power of exclusion were high in all population groups tested in this study. A multidimensional scaling plot of these nine population groups based on the Reynolds' genetic distances calculated from 15 autosomal STRs was constructed, and the genetic substructure in this area was presented. In conclusion, this 15 autosomal STR multiplex system provides highly informative STR data and appears useful in forensic casework and parentage testing in different populations.
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Etnicidad/genética , Genética de Población , Repeticiones de Microsatélite , Reacción en Cadena de la Polimerasa Multiplex , Dermatoglifia del ADN , Frecuencia de los Genes , Humanos , Estudios Retrospectivos , TaiwánRESUMEN
Although many phthalates are endocrine-disrupting chemicals that are associated with adverse birth outcomes, the relationship between maternal phthalate exposure and birth outcomes is not yet conclusive. The objective of the present study was to investigate the association between prenatal exposure to phthalates in human maternal and cord blood and birth outcomes of the infants. Sixty-five mother-infant pairs were recruited in Taipei City and New Taipei City, and birth outcomes of the infants were recorded. Twelve phthalate metabolites were measured in maternal and cord blood samples. The mean of mono-ethyl phthalate, mono-isobutyl phthalate (MiBP), mono-n-butyl phthalate (MnBP), and mono-(2-ethylhexyl) phthalate (MEHP) was relatively higher than that of the other metabolites in both maternal and infant blood. There was a significant difference (p < 0.05) for mono-methyl phthalate (MMP) and MnBP between the maternal blood and cord blood of male infants. Mono-benzyl phthalate (MBzP), MMP, MiBP, and ∑di-2-ethylhexyl phthalate (∑DEHP) in maternal blood were inversely correlated with the anogenital index (AGI) of male infants, with a p value between 0.011 and 0.033. Mono-n-octyl phthalate, MMP, MiBP, MnBP, and MBzP were positively correlated with the AGI of female infants, with a p value between 0.001 and 0.034. Cord blood levels of MnBP, mono-(2-ethyl-5-oxohexyl)-phthalate, MEHP, and ∑DEHP were found to be inversely associated with head circumference in all the infants, adjusted for gestational age. Phthalate monoesters are potentially estrogenic and antiandrogenic chemicals. Longitudinal follow-up of the present study population could help clarify the long-term impact of phthalates on growth and the health effects of background exposure levels. Environ Toxicol Chem 2022;41:715-725. © 2022 SETAC.
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Contaminantes Ambientales , Ácidos Ftálicos , Efectos Tardíos de la Exposición Prenatal , Femenino , Humanos , Masculino , Embarazo , Exposición a Riesgos Ambientales , Contaminantes Ambientales/efectos adversos , Contaminantes Ambientales/metabolismo , Sangre Fetal/metabolismo , Exposición Materna/efectos adversosRESUMEN
Interest in the development of polymorphic short tandem repeat (STR) markers unlinked to the CODIS loci is growing among forensic practitioners. We developed a multiplex system in which14 autosomal STR (D3S1744, D4S2366, D8S1110, D12S1090, D13S765, D14S608, Penta E, D17S1294, D18S536, D18S1270, D20S470, D21S1437, Penta D, and D22S683) could be amplified in one single polymerase chain reaction. DNA samples from 572 unrelated Taiwanese Han subjects were analyzed using this 14 STR multiplex system. Thirty parent-child pairs of parentage testing cases with a combined paternity index (CPI) below 1,000 and 32 parent-child pairs with single-step mutations found in AmpFâSTR Identifiler loci were also recruited for validation of the newly developed system. DNA sequencing was performed for novel STRs and novel alleles found in these subjects. The distributions of allelic frequencies for these autosomal STRs and sequence data, allele nomenclature for the STRs, and forensic parameters are presented. The discrimination power in our multiplex loci ranged from 0.6858 (D18S536) to 0.9168 (Penta E), with a combined discrimination power of 0.999999999. It provides additional power to distinguish the possible single-step mutations in parent-child pairs and improves the ability to prove parentage by increasing the CPI. The combined power of exclusion of these 14 loci in Taiwanese Han in this study was 0.9999995913. In conclusion, this 14-autosomal STRs multiplex system provides highly informative STR data and appears useful in forensic casework and parentage testing.
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Pueblo Asiatico/genética , Repeticiones de Microsatélite/genética , Polimorfismo Genético , Mapeo Cromosómico , Ciclofosfamida/análogos & derivados , Bases de Datos de Ácidos Nucleicos , Genética Forense , Frecuencia de los Genes , Genética de Población , Humanos , Mutación , Paternidad , Reacción en Cadena de la Polimerasa , TaiwánRESUMEN
A 13 X-chromosomal short tandem repeat (STR) multiplex system (DXS6807, DXS8378, DSX9902, DXS7132, DXS9898, DXS6809, DXS6789, DXS7424, DXS101, GATA172D05, HPRTB, DXS8377, and DXS7423) was tested on 1,037 DNA samples from eight population groups currently living in Taiwan. Different distributions of the allelic frequencies in different populations were presented. DXS8377 and DXS101 were the two most polymorphic loci in these eight populations, whereas DXS7423 was the least informative marker in most of the populations studied. The genetic distances between the populations and the constructed phylogenetic tree revealed a long genetic distance between Asian and Caucasian populations as well as isolation of the Tao population. The phylogenetic tree grouped populations into clusters compatible with their ethnogeographic relationships. This 13 X-chromosomal short tandem repeat multiplex system offers a considerable number of polymorphic patterns in different populations. This system can be useful in forensic identification casework and ethnogeographic research.
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Cromosomas Humanos X , Dermatoglifia del ADN , Etnicidad/genética , Genética de Población , Secuencias Repetidas en Tándem , Femenino , Frecuencia de los Genes , Marcadores Genéticos , Humanos , Masculino , Filogenia , Reacción en Cadena de la Polimerasa , Estudios Retrospectivos , TaiwánRESUMEN
We examined multidimensional factors within four systems (individual, family, school, and community) that influence internet addiction across time among children through adolescence in Taiwan. We hypothesize that internet addiction increases from childhood to adolescence and that resilience, child neglect, positive school experiences, and community violence are significant predictors at baseline and of the rate of change across time. Based on stratified random sampling, a valid sample size of 6233 Taiwanese children participated in our study, which we began in 2014 and then followed this sample in 2016 and 2018 using repeated measures. We used hierarchical linear modeling to model changes in internet addiction across time (with equal two-year intervals between assessments) and the associations between the predictors and internet addiction over time. The results show that internet addiction increases from childhood to adolescence. After controlling for gender, we found that resilience and positive school experiences predict less internet addiction, whereas neglect and community violence predict greater internet addiction. Over time, greater resilience predicts a decreasing trajectory of internet addiction, whereas greater neglect and community violence predict a slower increasing trajectory and positive school experiences predict a faster-increasing trajectory. A holistic approach can help children cope with internet addiction.