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Objective: Examining the distribution of breast cancer (BC) stage and molecular subtype among women aged below (< 45 years), within (45–65 years), and above (> 65 years) the recommended screening age range helps to understand the screening program's characteristics and contributes to enhancing the effectiveness of BC screening programs. Methods: In this retrospective study, female patients with newly diagnosed BC from 2010 to 2020 were identified. The distribution of cases in terms of TNM stages, severity classes, and subtypes was analysed according to age groups. Results: A total of 3282 women diagnosed with BC were included in the analysis. Among these cases 51.4% were detected outside the screening age group, and these were characterized by a higher TNM stage compared to those diagnosed within the screening age band. We observed significantly higher relative frequency of advanced BC in the older age group compared to both the screening age population and women younger than 45 years (14.9% vs. 8.7% and 7.7%, P < 0.001). HR−/HER2− and HER+ tumours were relatively more frequent among women under age 45 years (HR−/HER2−: 23.6%, HER2+: 20.5%) compared to those within the screening age range (HR−/HER2−: 13.4%, HER2+: 13.9%) and the older age group (HR−/HER2−: 10.4%, HER2+: 11.5%). Conclusions: The findings of our study shed light on potential areas for the improvement of BC screening programs (e.g., extending screening age group, adjusting screening frequency based on molecular subtype risk status) in Hungary and internationally, as well. [ABSTRACT FROM AUTHOR]

Tandem repeat genetic profiles used in forensic applications varies between populations. Despite the diversity and security issues in the Sahel that require the identification of victims (soldiers and civilians), Burkina Faso (BF) remains understudied. To fill this information gap, 396 unrelated individuals from BF were genotyped using a MICROREADER 21 ID System kit. All 20 short tandem repeat (STR) loci tested passed the Hardy–Weinberg equilibrium (HWE) test. The combined powers of exclusion for duos (CPE duos) and trios (CPE trios) for the 20 tested loci were 0.9999998 and 0.9999307, respectively. The probability that two individuals would share the same DNA profiles among the BF population was 9.80898 × 10–26. For the X-chromosome STR analysis, 292 individuals were included in this study using a MICROREADER 19X Direct ID System kit. Among the 19 loci, no significant deviations from HWE test were observed in female samples after Bonferroni correction (p < 0.05/19 = 0.0026), except for loci GATA165B12 and DXS7423. The results showed that the combined power of exclusion (CPE) and the combined power of discrimination in females (CPDF) and males (CPDM) were 0.999999760893, 0.999999999992, and 1, respectively. Comparison with other African sub-populations showed that geographical proximity is a reliable indicator of genetic relatedness. [ABSTRACT FROM AUTHOR]

Abstra: Osteological collections are an important resource for the development of methods to assist in the study of skeletal remains in archeological and/or forensic contexts. The aim is to describe the current characteristics of the Identified Skeletal Collection of the School of Legal Medicine and its historical context. The Identified Skeletal Collection of the School of Legal Medicine of the Complutense University of Madrid consists of 138 male and 95 female individuals, born between 1880 and 1980 and deceased between 1970 and 2009. The minimum age of the sample is perinatal and the maximum age is 97 years. The collection is an essential tool for forensic research, given that its population characteristics can be extrapolated to those of present-day Spain. Access to this collection offers unique teaching opportunities as well as provides the information necessary to develop various lines of research. [ABSTRACT FROM AUTHOR]

The complex demographic history of human populations in North Africa has resulted in a high degree of genetic heterogeneity across the region. However, little is known about the pattern of these genetic variations in its current populations. The present study provides new data on the genetic background of Chaouia, an Arabic-speaking North African population in the western center of Morocco. A random sample of 150 unrelated healthy individuals from Chaouia was assessed using the AmpFLSTR Identifiler kit. The most polymorphic markers were D21S11 and D18S51, with 23 and 22 alleles, respectively. After Bonferroni's correction, two loci (TH01 and D18S51) deviated from Hardy–Weinberg equilibrium. The phylogeny analysis separated North African populations into northeastern and northwestern groups. The Chaouia population was clustered with northwestern Africans. It was the closest to the Berbers of Azrou. The Chaouia shared close genetic affinities with populations from North Africa, the Middle East, and Europe, particularly Iberians, and to a lesser extent with sub-Saharan populations. The pattern of genetic admixture varied across North African populations without a clear correlation between their geographic (northeastern or northwestern) or linguistic identities (Arab or Berber), however, genetic heterogeneity among Berbers was observed. These findings suggest that the diversity observed in North African populations extends geographical and linguistic boundaries. It is further linked to each population's unique and complex demographic history. Human North African population genetics seems to present an intriguing landscape for future studies in the region and its surrounding populations to trace the origins of the genetic heterogeneity observed in these populations. [ABSTRACT FROM AUTHOR]

Background: The Life-Space Assessment (LSA) can compliment traditional physical performance measures of mobility by accounting for the interaction between individuals and their environment. However, there are no studies that have generated percentile curves showing sex-stratified reference values in a large population-based sample of community-dwelling adults, making its interpretation difficult. Therefore, this study aimed to establish sex-stratified reference values for the LSA in middle-aged and older Canadians. Methods: Baseline data for participants aged 45–84 years old from the Canadian Longitudinal Study on Aging (CLSA) were used (n = 22,154). Quantile regression was used to estimate specific percentiles, with age as the independent variable and LSA scores as the dependent variable. Models were run for the whole sample, then separately for males and females. The models were cross-validated to assess their reliability. CLSA inflation and analytic weights were applied. Results: On average, the sample was 62.5 ± 10.0 y.o. (51.1% males), with a weighted mean LSA score of 89.2 ± 17.0. There was also a decrease in LSA scores with age, where scores were lower for older age groups compared to younger groups, and LSA scores were lower for females relative to males. Discussion and conclusions: Reference data will aid in interpreting, comparing, and making inferences related to LSA scores obtained in clinical and research settings for Canadian adults. [ABSTRACT FROM AUTHOR]

Identification of living undocumented individuals highlights the need for accurate, precise, and reproducible age estimation methods, especially in those cases involving minors. However, when their country of origin is unknown, or it can be only roughly estimated, it is extremely difficult to apply assessment policies, procedures, and practices that are accurate and child-sensitive. The main aim of this research is to optimize the correct classification of adults and minors by establishing new cut-off values for four different continents (Africa, America, Asia, and Europe). For this purpose, a vast sample of 10,701 orthopantomographs (OPTs) from four continents was evaluated. For determination and subsequent validation of the new third molar maturity index (I3M) cut-off values by world regions, a cross-validation by holdout method was used and contingency tables (confusion matrices) were generated. The lower third molar maturity indexes, from both left and right side (I3ML and I3MR) and the combination of both sides (I3ML_I3MR) were calculated. The new cut-off values, that aim to differentiate between a minor and an adult, with more than 74.00% accuracy for all populations were as follows (I3ML; I3MR; I3ML_I3MR, respectively): Africa = (0.10; 0.10; 0.10), America = (0.10; 0.09; 0.09), Asia = (0.15; 0.17; 0.14), and Europe = (0.09; 0.09; 0.09). The higher sensitivity (Se) was detected for the I3ML for male African people (91%) and the higher specificity (Sp) of all the parameters (I3ML; I3MR; I3ML_I3MR) for Europeans both male and female (> 91%). The original cut-off value (0.08) is still useful, especially in discriminating individuals younger than 18 years old which is the goal of the forensic methods used for justice. [ABSTRACT FROM AUTHOR]

The diagnostic accuracy of the I3M to assess the legal age of 18 years has already been tested in several specific-population samples. The left lower third molar has been extensively used for discriminating between minors and adults. This research aimed to compare the usefulness of lower third molar maturity indexes, from both left and right side (I3ML and I3MR), in samples originating from four distinct continents in order to examine possible differences in their accuracy values. For this purpose, a sample of 10,181 orthopantomograms (OPGs), from Europe, Africa, Asia and America, was analysed and previously scored in other studies. The samples included healthy subjects with no systemic disorders with both third molars and clear depicted root apices. Wilcoxon Signed Rank test for left and right asymmetry did not show any significant differences. Data about sensitivity, specificity, predictive values, likelihood ratio and accuracy were pooled together and showed similar results for I3ML and I3MR, respectively. In addition, all these quantities were high when only the I3MR was considered to discriminate between adults and minors. The present referable database was the first to pool third molar measurements using panoramic radiographs of subjects coming from different continents. The results highlighted that both I3ML and I3MR are reliable indicators for assessing the legal age of 18 years old in those jurisdictions where this legal threshold has been set as the age of majority. [ABSTRACT FROM AUTHOR]

Background: Hitherto, incidence burden of childhood cancer in India has been derived from GLOBOCAN data. Recent analyses have challenged whether this accurately measures the true incidence of childhood cancer. Objective: To use observed data rather than simulation to estimate the number of children (0–14 years), as well as number of children and adolescents (0–19 years), in India who develop cancer every year at the national and state/union territory (UT) level. Methods: Age-specific (five year groups), sex-specific, and state/UT specific population data from India Census 2011 was used. Global average incidence rates from the International Incidence of Childhood Cancer 3 (IICC3) report were used. Incidence rates per million person-years for the 0–14 years and 0–19 years age groups were age-adjusted using the world standard population to provide age-standardized incidence rates, using the age-specific incidence rates for individual age groups (0–4 years, 5–9 years, 10–14 years, and 15–19 years). Results: The national number of children (0–14 years) and, children and adolescents (0–19 years) that may develop cancer every year based on 2011 census are 52,366 and 76,805 persons respectively. Cancer type specific incidence is provided for each state/UT for these age ranges. This national incidence is approximately double of the GLOBOCAN 2018 estimates of incidence of children diagnosed and registered with cancer and the differential is greater in girls. Conclusion: Our analysis proposes new estimates of incident childhood cancer cases in India for children and adolescents. Future regional, national and international research on childhood cancer epidemiology and healthcare accessibility would help further refine these estimates. [ABSTRACT FROM AUTHOR]

X-chromosomal STRs are a powerful tool to assess a broad variety of complex kinship scenarios. We introduce herewith the first Swiss X-STR dataset based on 1198 individuals (592 female, 606 male), characterized with the Qiagen Investigator® Argus X-12 QS multiplex kit. Anomalous allele patterns, allele and haplotype frequencies, and forensic and population genetic parameters are presented. We detected linkage disequilibrium within three out of the four designated linkage groups and no apparent intra-national population substructure. We compared the dataset to a global panel of X-STR datasets and it fits well in the European context, as expected. [ABSTRACT FROM AUTHOR]

Background: The morphometric analysis of the individual bones of the human skeleton can be used to estimate the sex of unidentified corpses. Our aims were as follows: to test whether thyroid cartilage can be used for forensic purposes as a predictor of biological sex; to establish the level of sexual dimorphism of the thyroid cartilage in a sample of adult subjects from a population of European Russia; and to test the accuracy of the morphometric parameters obtained from the thyroid cartilage. Results: The thyroid cartilage from 100 adults of known age (50 males and 50 females) was obtained during forensic examination; morphometric tests were conducted using Vernier Digital ROKTOOLS ABS DIN 862 0-200/6 inch with measurement accuracy ± 0.01 mm. The measured parameters were N = 31 for each subject. Intra- and inter-observer reproducibility was tested. Multivariate statistical analysis was applied to the measurements. To check the data set for normal distribution, the Kolmogorov-Smirnov test was used. Finally, to estimate the sex of the observed individuals, a stepwise discriminant analysis was conducted, using the Wilks' lambda selection method. The most significant parameters were the outer distance between bases of inferior horn; the inner distance between distal ends of inferior horns; distance between distal ends of left superior and inferior horns; left superior horn length (distance between left superior horn distal end and base); distance between superior and inferior notches; thyroid angle; left lamina height (vertical line along left lamina middle); horizontal distance between anterior intermedium line and the right lamina posterior edge; distance between inferior thyroid notch and line connecting left and right thyroid laminae; and left superior horn thickness at mid-line. The stepwise discriminant analysis resulted in an equation with ten parameters. Conclusions: The results of the current study indicated that in the European Russian population, the equation obtained in the stepwise discriminant analysis makes it possible to predict sex with a probability of 100% on the validation set. On the test set, the resultant accuracy was 100% for females and 100% for males. Our findings confirm the scientific evidence that the thyroid cartilage has a pronounced sexual dimorphism. [ABSTRACT FROM AUTHOR]

The study describes the development of a new multiplex PCR system that simultaneously amplifies 16 X chromosome short tandem repeats (X-STRs) loci in a single PCR reaction and its applicability on a sample of 200 from the Sinhalese population in Sri Lanka. 13 X-STR loci located in four clusters are selected for the assay (DXS10148-DXS10135-DXS8378, DXS7132-DXS10079-DXS10074-DXS10075, DXS6801-DXS6809-DXS6789 and DXS7424-DXS101-DXS7133). In addition, three single loci were also selected (DXS9902, HPRTB and DXS7423). Genomic DNA extracted using the Chelex-100 method was amplified with modified published primers and subjected to capillary gel electrophoresis. Complete DNA profiles were obtained with 0.20 ng 9947A DNA and the band sizes ranged between 100 and 320 bp with 10 loci having sizes below 237 bp. A total of 160 alleles were observed among the sample with 5–23 alleles for each locus. The forensic efficiency evaluation showed high values for the combined power of discrimination in males (1 in 1 × 1010) and females (1 in 1 × 1017). Combined mean exclusion chance (MEC) indices calculated for deficiency, normal trio and duo cases were equally high (> 0.99999). Application of the new multiplex system to two actual kinship cases of full sibling and deficient paternity suggested that these 16 short tandem repeat loci are highly appropriate for forensic and kinship testing among the Sinhalese population. [ABSTRACT FROM AUTHOR]

Population studies of Puerto Rico have recently gained salience as recent environmental and economic shocks have affected demographic behavior. In this review, we describe the major population databases on Puerto Rico and discuss the strengths and weaknesses of each. These databases include three from the US Census Bureau—the Decennial Population Census, the Puerto Rico Community Survey, and the Population Estimates Program—and three additional databases used to study migration (the Bureau of Transportation Statistics), health (the Behavioral Risk Factor Surveillance System), and labor (the Puerto Rico Labor Survey). These databases can be used to study emerging demographic topics, as well as inequities in population outcomes. [ABSTRACT FROM AUTHOR]

The use of 21 autosomal STR loci for human identification has been gaining popularity throughout the world. It has been indicated that the forensic statistical parameters for supporting the use of 21 STR loci varied among different populations. Hitherto, such data for the diverse Malaysian populations remain unreported, rendering doubts in the court of law about its real ability for human identification in Malaysian population. Using the GlobalFiler™ Express PCR Amplification Kit, complete DNA profiles of 21 STR loci from buccal swabs of convicted Malaysian criminal (n = 570; 190 each for Malays, Chinese, and Indians) (by the year 2016–2017) were analyzed for their allele frequencies, exact test of Hardy-Weinberg equilibrium, observed and expected heterozygosity, power of discrimination, power of exclusion, match probability, and polymorphism information content. Most of the loci were found to be in the Hardy-Weinberg equilibrium after the Bonferroni correction. Being the most informative locus, SE33 demonstrated the highest power of discrimination and power of exclusion, indicating its usefulness to discriminate individuals. In contrast, TPOX had the lowest power of discrimination and power of exclusion, as well as being the less informative genetic locus for all Malaysian population studied here. The probabilities that two individuals would share the same DNA profiles among the Malaysian Malays, Chinese, and Indians, as well as in general Malaysian population, were 1.3713 × 10−25, 2.8822 × 10−25, 7.5668 × 10−26, and 1.0385 × 10−26, respectively. The results obtained here were found comparable with similar studies reported in other populations. Hence, its robustness for forensic human identification among the Malaysian populations is, therefore, statistically supported. [ABSTRACT FROM AUTHOR]

In 1998, the National Research Council published People and Pixels: Linking Remote Sensing and Social Science. The volume focused on emerging research linking changes in human populations and land use/land cover to shed light on issues of sustainability, human livelihoods, and conservation, and led to practical innovations in agricultural planning, hazard impact analysis, and drought monitoring. Since then, new research opportunities have emerged thanks to the growing variety of remotely sensed data sources, an increasing array of georeferenced social science data, including data from mobile devices, and access to powerful computation cyberinfrastructure. In this article, we outline the key extensions of the People and Pixels foundation since 1998 and highlight several breakthroughs in research on human–environment interactions. We also identify pressing research problems—disaster, famine, drought, war, poverty, climate change—and explore how interdisciplinary approaches integrating people and pixels are being used to address them. [ABSTRACT FROM AUTHOR]

This is the first report of a nation-wide study of the 27-STR Yfiler® Plus panel in the population of the Russian Federation. A total of 691 unrelated males from 89 locations split into seven subpopulations were analysed. Forensic parameters, haplotype and allele frequencies and presented. Inter-population comparison indicated the biggest genetic differences with the population of Italy and the smallest with that of Hungary. Haplogroup R1a was the most common and haplogroup J2a4h was the rarest in the Russian population. [ABSTRACT FROM AUTHOR]

Head and neck angiosarcomas (HN-AS) are rare malignancies with a poor prognosis relative to other soft tissue sarcomas. To date, the HN-AS literature has been limited to short reports and single-institution experiences. This study evaluated patients registered with the Surveillance, Epidemiology, and End Results (SEER) program who had been diagnosed with a primary HN-AS. Predictors were drawn from demographic and baseline tumor characteristics. Outcomes were survival months and cause of death. Kaplan–Meier analyses were used to estimate overall (OS) and disease-specific survival (DSS) rates. Cox proportional hazards regression models were used for multivariate analyses. A total of 1250 patients (mean age 73.3 years) were identified, and nearly all lesions (93.5%) were cutaneous. Two- and 5-year OS rates were 47.3% (95% CI 44.3–50.3) and 26.5% (95% CI 23.7–29.3), while 2- and 5-year DSS rates were 66.6% (95% CI 63.6–69.6) and 48.3% (95% CI 44.5–52.1). In the univariate analyses, age, race, tumor grade, tumor size, AJCC stage, SEER historic stage, and surgery were significant predictors of both OS and DSS. Multivariate regression revealed that independent predictors of poor OS and DSS were older age [OS: HR 1.04 (95% CI 1.02–1.05), p < 0.01; DSS: HR 1.03 (95% CI 1.01–1.05), p < 0.01], increased tumor size [OS: HR 1.01 (95% CI 1.01–1.01), p < 0.01; DSS: HR 1.01 (95% CI 1.01–1.02), p < 0.01], and distant disease [OS: HR 2.97 (95% CI 1.65–5.34), p < 0.01; DSS: HR 4.99 (95% CI 2.50–9.98), p < 0.01]. Age, tumor size, and disease extent were determinants of HN-AS survival. When all other factors were controlled, lower histologic grade and surgery did not improve the risk of death. [ABSTRACT FROM AUTHOR]

The article examines the diversity of short tandem repeat (STR) markers with the SCN5A gene in Iranian population. Topics mentioned include the role of the gene in various heterogeneous cardiac diseases, identification of disease causative SCN5A gene in a family with cardiac diseases, heterozygosity and frequency assessments of STR markers in Iranians.

This study was conducted to come up with data on Y-STR markers for the population of Rajasthan comprising of the western arid region of India. Y-STR analysis is an established tool in forensic DNA casework and ancestry research. We analyzed 23 Y-STRs in randomly selected 310 unrelated individuals living within the geographical area of Rajasthan to establish parameters of forensic interest. Out of 310 haplotypes, 309 unique haplotypes were observed, which revealed a high discrimination capacity with a value of 0.997 for the studied loci. The gene diversity (GD) and haplotype diversity (HD) for the studied 23 Y STRs were found to be 0.664 and 0.666, respectively. In the population of Rajasthan, locus DYS385a/b showed the highest gene diversity with a value of 0.829 among all the studied loci. The studied population showed genetic relatedness with the populations of Madhya Pradesh, Uttar Pradesh, Jharkhand, and Himachal Pradesh. [ABSTRACT FROM AUTHOR]

Short tandem repeat (STR) analysis is a primary tool in forensic casework. Population data and mutation rates of STRs are very important for paternity testing and forensic genetics. However, the population data and mutation rates of STRs in Han nationality based on large samples have still not been fully described in China. In this study, the allelic frequencies, forensic parameters, and mutation rate of 19 STR loci (D19S433, D5S818, D21S11, D18S51, D6S1043, D3S1358, D13S317, D7S820, D16S539, CSFIPO, PentaD, vWA, D8S1179, TPOX, Penta E, TH01, D12S391, D2S1338, and FGA) based on the Goldeneye™ DNA ID System 20A in Southern China Han nationality among seven provinces were investigated. Furthermore, population stratification of Southern China Han nationality among seven provinces was established. The multidimensional scaling (MDS) plot based on genetic distances (Fst) showed that the studied populations can be clustered into two major groups. However, relationships among populations were weak (Fst < 0.0043). A total of 376 cases of mutation were detected from the 19 selected loci in 15,396 meioses. The average mutation rate for the 19 loci was estimated to be 1.3 × 10 per meiosis. The mutation was mainly single step; the paternal mutation rate was higher than the maternal; and paternal mutation rate increases with paternal age. [ABSTRACT FROM AUTHOR]

In the present study, population data of 19 autosomal STR loci included in the Goldeneye™ DNA ID System 20A in 653 Li individuals was obtained and population genetic relationships among 13 populations were investigated. MDS and phylogenetic analysis suggested that the Hainan Li population kept a close genetic relationship with the Chinese Han populations, especially for Southern Han populations (Guangdong Han, Sichuan Han, and Hunan Han). Our results indicated that the 19 autosomal STRs are highly discriminative and polymorphic in the Hainan Li population suitable for personal forensic identification and paternity testing. [ABSTRACT FROM AUTHOR]

The X chromosome has a special mode of inheritance, and is thus a rich resource for population studies. In this study, the allele frequencies and forensic statistics of the 19 X chromosomal short tandem repeat loci were evaluated in 500 Uyghur individuals from Aksu Prefecture in northwest China. We further aimed to study whether the Uyghur populations located in various regions of Xinjiang share similar allele and haplotype frequency distributions, as they have experienced genetic exchanges. Population comparisons, PCA and MDS were performed for the Uyghurs and 27 populations and the results indicate that the Uyghur minority in Aksu has a relatively close phylogenetic relationship with East Asians, especially the Kazakh minority. [ABSTRACT FROM AUTHOR]

Purpose: The term 'ponticulus posticus' refers to a partial or complete bony arch over the vertebral artery as it crosses the superolateral surface of the posterior arch of the atlas. This anatomical modification is linked to different symptoms, ranging from neckache to headache and migraine. This bony arch may also be incorrectly assessed during orthopaedic surgery for fixation of C1-C2, with consequent risk of damaging the vertebral artery. Its frequency in the general population has been widely analysed by literature in different geographic contexts, but an analysis of the prevalence of such feature in the Italian population is still missing. Methods: A Northern Italian orthodontic sample was analysed to assess the prevalence of ponticulus posticus. Lateral teleradiographies of 221 patients were examined. All the patients underwent lateral cephalometry for odontoiatric purposes and none of them was affected by congenital diseases or skeletal deformities. Results: In the analysed sample, ponticulus posticus had a prevalence of 7.7 % for the complete form, and 9.0 % for the incomplete form. Complete and partial forms were observed, respectively, in 8.8 and 11.0 % of males, and in 6.9 and 7.7 % of females, without statistically significant differences. Conclusions: The current investigation provided the first data concerning the frequency of ponticulus posticus in Italy: further studies are needed to widen the sample, verify possible regional variations and improve the analysis by more advanced radiological examinations such as CT and cone beam CT scans. [ABSTRACT FROM AUTHOR]

In order to verify specific biallelic X-indels and their characteristic properties in distinct populations, one German and three Baltic population groups (Estonia, Latvia, and Lithuania) have been analyzed by a short amplicon method, which also enables detection of degraded DNA samples. To combine 21 indels in a single multiplex PCR, all products were arranged according to their expected amplicon length (~40-160 bp) on the basis of three different fluorochromes. Separation of PCR products was carried out in a single capillary electrophoresis. Data evaluating was performed including five further indel markers which have already been tested in identical samples, resulting in altogether 26 markers. The majority of the genetic material showed combinations of insertion elements (L-fragments). Combinations of deletion elements (S-fragments) in contrast occurred with significant lower ratios. Hardy-Weinberg equilibrium (HWE) was observed for all markers except for MID1361 and MID329. This was attributed to an insufficient number of samples. For two known linkage groups within the 26-indel set (MID357-MID356 and MID3690-MID3719-MID2089), haplotype data were determined. A pairwise comparison of German and Baltic allele frequencies did not show significant deviation. This result indicates a possible genetic association between all four population groups. The calculated biostatistical parameters show high forensic efficiency for this set of indel markers. In a segregation analysis investigating 194 meiosis, no mutations have been detected regarding expected transmission patterns. [ABSTRACT FROM AUTHOR]

The genetic polymorphisms of 20 autosomal short tandem repeat (STR) loci included in the PowerPlex® 21 kit were evaluated from 2068 unrelated, healthy individuals from the Chinese Han population of Yunnan Province in southwest China. All of the loci reached Hardy-Weinberg equilibrium. These loci were examined to determine allele frequencies and forensic statistical parameters. The genetic relationships among the Yunnan Han and other Chinese populations were also estimated. The combined discrimination power and probability of excluding paternity of the 20 STR loci were 0.99999999999999999999999126 and 0.999999975, respectively. In addition, mutation rates from 4363 parentage cases (2215 trios and 2148 duos) were investigated in this study. A total of 164 mutations were observed in 6578 meioses from the 20 loci. The highest mutation rate was observed in D12S391 (0.30%), and the lowest mutation rates were observed in D13S317 (0.03%) and TPOX (0.03%). The average mutation rate for the 20 loci was estimated to be 1.246 × 10−3 per meiosis. The mutations were primarily single-step and paternal mutations. [ABSTRACT FROM AUTHOR]

By genotyping 1198 individuals with the Qiagen Investigator® HDplex Kit, we expand the Swiss autosomal STR dataset to 32 loci, providing additional resources for complex kinship cases. We present the first high-quality allele frequency dataset for loci D2S1360, D5S2500, D7S1517, and D10S2325 that will be accessible through the ENFSI reference database STRidER. For loci D3S1744, D4S2366, D6S474, D8S1132, and D21S2055, we provide a first European STRidER dataset. [ABSTRACT FROM AUTHOR]

X-chromosome microsatellite markers are a convenient tool for studying genetic variability in human populations and DNA identification, especially during the decreased informativeness of autosomal markers. The results of genetic analysis of Siberian populations by ten X-linked microsatellite markers (DXS8378, GATA172D05, DXS7132, DXS9898, DXS7423, DXS8377, DXS101, DXS6809, DXS6789, and HPRTB) are presented. The allele frequencies, criminalistics parameters, and genetic relations between populations were calculated. The average level of expected heterozygosity (He) was 0.73 in populations. The total level of genetic differentiation in ten populations was relatively low (Fst = 0.031) compared to the level determined by autosomal and Y chromosome markers. The high probability of the establishment of differences (PD) between two unrelated individuals using a ten X-STR marker system was demonstrated. The average PD value in the panel of ten X chromosome microsatellite markers was 0.9999999997 in women and 0.999998 in men. The total level of genetic differentiation in a pool of ten populations is 0.03186. [ABSTRACT FROM AUTHOR]

To study the population data of Y-chromosome STRs (Y-STRs) of Han population resided in Hunan province, we analyzed haplotypes of 26 Y-STRs (DYS19, DYS385a/b, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS481, DYS533, DYS549, DYS570, DYS576, DYS635, DYS643, DYS388, DYS449, DYS460, and YGATAH4) in 310 unrelated male individuals using a commercially available Goldeneye® DNA ID 26Y system. The calculated average gene diversity values ranged from 0.4211 to 0.9590 for DYS438 and DYS385a/b loci, respectively. The discriminatory capacity was 96.77 % with 300 observed haplotypes. Population relationships between Hunan Han and eight other populations available from Y-chromosome haplotype reference database (YHRD) were compared. The results showed that the Han population resided in the Hunan district is significantly different from other populations. Our results also indicated that these 26 Y-STR loci were highly genetically polymorphic in the Hunan Han population and of great value in forensic application. [ABSTRACT FROM AUTHOR]

Introduction: Forensic characterization and genetic evaluation study in the 539 randomly selected unrelated adult healthy individuals belonging to the Central Indian population was undertaken. Methods: The study was performed using a multiplex of 27 Y-STRs incoporated in Yfiler™ Plus multiplex kit. Results: Out of 539 samples, 6 samples were observed for large deletion and tri-allelic patterns, which were removed from the analysis, and out of 533 samples, a total of 507 haplotypes were found, and out of these haplotypes, 482 unique haplotypes were found in this piece of work. The forensically important parameters, i.e., gene diversity (GD) and discrimination capacity (DC), were found to be 0.669 and 0.951, respectively, for the tested Y STR loci. The genetic data of this study will enrich the Y STR data bank and being used as a potential tool for forensic DNA and various genetic studies. [ABSTRACT FROM AUTHOR]

The African mitochondrial (mt) phylogeny is coarsely resolved but the majority of population data generated so far is limited to the analysis of the first hypervariable segment (HVS-1) of the control region (CR). Therefore, this study aimed on the investigation of the entire CR of 190 unrelated Somali individuals to enrich the severely underrepresented African mtDNA pool. The majority (60.5 %) of the haplotypes were of sub-Saharan origin with L0a1d, L2a1h and L3f being the most frequently observed haplogroups. This is in sharp contrast to previous data reported from the Y-chromosome, where only about 5 % of the observed haplogroups were of sub-Saharan provenance. We compared the genetic distances based on population pairwise F values between 11 published East, Central and North African as well as western Asian populations and the Somali sequences and displayed them in a multi-dimensional scaling plot. Genetic proximity evidenced by clustering roughly reflected the relative geographic location of the populations. The sequences will be included in the EMPOP database () under accession number EMP00397 upon publication (Parson and Dür Forensic Sci Int Genet 1:88-92, 2007). [ABSTRACT FROM AUTHOR]

Allele frequencies and forensic statistics of 21 autosomal short tandem repeat loci (i.e., D6S474, D12ATA63, D22S1045, D10S1248, D1S1677, D11S4463, D1S1627, D3S4529, D2S441, D6S1017, D4S2408, D19S433, D17S1301, D1GATA113, D18S853, D20S482, D14S1434, D9S1122, D2S1776, D10S1435 and D5S2500) were estimated in Han population from northern China ( n = 220). Significant deviation from Hardy-Weinberg equilibrium was detected only for D22S1045. The observed heterozygosity, the expected heterozygosity, the discrimination power, the probability of paternity exclusion in trios, the probability of paternity exclusion in duos and the polymorphic information content ranged from 0.591 to 0.836, 0.594 to 0.830, 0.762 to 0.948, 0.341 to 0.659, 0.189 to 0.487 and 0.535 to 0.807, respectively. Triallelic patterns were observed at D19S433 and D10S1435. Mutations occurred at D22ATA63, D10S1248, D19S433 and D14S1434 loci with all single-step mutations. The expected mutation rates of these four loci are 0.0042 with 95% confidence interval [0.0001, 0.0232] in a total of 238 meioses. Our results show that these 21 non-CODIS STR loci are highly polymorphic and can be useful for human identification and kinship analysis in Northern Han population in China. [ABSTRACT FROM AUTHOR]

Population data of 15 short tandem repeat loci of the AmpFlSTR® next generation multiplex (NGM)™ were obtained from a sample of 835 individuals. The loci are the ten short tandem repeats (STRs) in the SGM Plus® Kit plus the EDNAP- and ENSFI-recommended STRs D10S1248, D22S1045, D2S441, D1S1656, and D12S391. Allele frequency and other forensically relevant statistics data were generated for the NGM loci into five current country macroregions of Brazil (North, Northeast, Central West, Southeast, and South). All the analyzed loci meet Hardy-Weinberg equilibrium expectations and no linkage disequilibrium in all pairs of loci. The observed and expected heterozygosity, power of discrimination, polymorphic information content, and the other population-genetic indices were calculated. The overall power of discrimination was greater than 0.99999999999999999996 and the combined power of exclusion was greater than 0.9999998 in all Brazilian populations. Comparative analysis between populations from different Brazilian macroregions as well as between Brazil and Caucasian, African Americans, and Hispanic US populations are presented. [ABSTRACT FROM AUTHOR]

We developed two multiplex systems for the coamplification of X-chromosomal short tandem repeats (STRs). X-Multiplex 1 consisted of DXS6807, DXS6800, DXS7424, DXS101, GATA172D05 and HPRTB and X-Multiplex 2 consisted of DXS8378, DXS9898, DXS6801, DXS6809, DXS6789, DXS7133, DXS8377 and DXS7423. In addition, we present allele frequencies for these loci in a south Brazilian population comprising 124 females and 141 males and haplotype frequencies of linked markers for males. Hardy-Weinberg equilibrium (HWE) was tested in the female sample and no significant deviations were found after applying Bonferroni's correction. Linkage disequilibrium (LD) tests were performed for all pairs of loci and three significant results, out of 91 pairwise comparisons, were obtained. We did not find any evidence of linkage disequilibrium between close or linked markers. The power of discrimination in females (PD) varied between 0.832 for DXS6801 and 0.987 for DXS8377. DXS6801 was the least informative marker (PIC = 0.605), while DXS8377 was the most polymorphic (PIC = 0.911), followed by DXS101 (PIC = 0.872). Genetic distances were estimated for each STR marker applying the calculation of F between our total sample and other studies from Brazil, Europe, Asia and Africa. The most distant populations were Japan, Korea, China, Ghana and Uganda. [ABSTRACT FROM AUTHOR]

DNA databases are the most efficient tools in criminal investigations with unknown perpetrators. Due to a significant number of random matches in cross-border DNA profile exchanges, the European Network of Forensic Science Institutes (ENFSI) proposed the addition of further short tandem repeats (STRs) to European DNA databases. Therefore, the new Powerplex® ESX17 and Powerplex® ESI17 kits from Promega comprised the 11 established DNA database STRs and additionally the well-known loci D1S1656 and D12S391, as well as D2S441, D10S1248, and D22S1045. The latter three STRs are thereby established as so-called mini-STRs to fulfill the increasing requirements regarding sensitivity and reproducibility for analysis of minute amounts of DNA. Here, we provide allele frequencies for the five additional STRs from two populations from Germany. A test regarding suitability and robustness of the new kits for routine trace analysis showed that it is more likely to obtain a meaningful profile using Powerplex® ESX17 and Powerplex® ESI17 kits compared to the Powerplex® ES kit. However, for both new kits the range of template DNA amount is rather small, e.g., slightly more DNA than recommended resulted in DNA profiles which could not be reliably evaluated due to allelic drop-in or imbalances and overshoots. In our opinion, the new kits are very promising new tools in forensic trace analysis even though handling and evaluation should yet be carried out with great caution. [ABSTRACT FROM AUTHOR]

Eleven X-chromosomal STRs from two multiplex PCR approaches (DXS6807, DXS8378, DXS7132, DXS6800, DXS9898, DXS7424, DXS101, DXS7133, HPRTB, DXS8377, and DXS7423), located in four different X-chromosomal linkage groups, were typed in two population samples from Africa, Morocco, and Madagascar. Forensic efficiency parameters such as polymorphism information content and mean exclusion chance were calculated. A deviation from the Hardy-Weinberg equilibrium could not be found. The investigation of four father-daughter and five mother-son meioses (from Morocco) revealed no mutations in any STR analyzed. Our data were compared with European, African-American, and Asian populations from the literature. [ABSTRACT FROM AUTHOR]

In 1902, the first breeding colony of emperor penguins was discovered. Over the following decades, the number of known emperor penguin colonies increased steadily and new ones are still being discovered. However, rigorous census work has been carried out at only a few colonies and accurate information on trends in breeding populations is limited to a small number of locations. Thus, the total number of breeding pairs is still unknown as is the size of the global population (breeders, non-breeders, juveniles). The International Union for the Conservation of Nature (IUCN) lists the species' status as 'least concern' and states that although the population trend for emperor penguins has not been quantified, the global population appears to be stable. This review summarises the currently available information on the populations of emperor penguins at known colonies in terms of survey methods, count units used and survey frequency. It examines what is known about the state of various colonies and demonstrates that currently available data are inadequate for a trend assessment of the global population. [ABSTRACT FROM AUTHOR]

Paternity and maternity investigations in immigration procedures are frequently done in Germany. Since mostly only one parent and one or more children are investigated, the occurrence of possible mutational events has to be interpreted with great care and the analysis of as many STRs as possible is recommended. The new Powerplex® ESX17 and Powerplex® ESI17 kits from Promega comprising both eleven established STRs and additionally the loci D1S1656, D2S441, D10S1248, D12S391, and D22S1045 (in different order) are potential tools in such paternity or maternity analyses, but only few allele frequency data for the five new loci exist. Here, we provide allele frequencies for the five additional STRs from three different populations from Africa. In addition, we present two maternity cases and one paternity case in which a clear inclusion or exclusion of the alleged parent could only be achieved by the additional application of the new Powerplex® ESX17 kit. [ABSTRACT FROM AUTHOR]

This study is to develop a new multiplex polymerase chain reaction (PCR) system that simultaneously amplifies the nine X-chromosome short tandem repeats loci in the same PCR reaction, and to explore their polymorphism and mutation rate among three nationality populations from China. These loci included DXS6854, DXS9902, DXS6809, GATA172D05, HPRTB, DXS7423, DXS6807, DXS8378, and DXS8377. The samples of 890 (484 males and 406 females) unrelated individuals from Guangdong Han population, Xinjiang Uigur, and Inner-Mongolia Mongol were successfully analyzed using this multiplex system. The allele frequencies and mutation rates of the nine loci were investigated, and the comparison of allele frequency distribution among different populations was performed. There were 87 alleles for all the loci, and six to 18 alleles for each locus observed by our new multiplex PCR system. Polymorphism information content was 0.4998-0.9101, and power of discrimination in females was 0.6518-0.9846. Five cases with mutation of above loci were detected in 5,310 meioses. Pair-wise comparisons of allele frequencies distribution showed significant differences for most loci among different populations. Our results indicate that this multiplex system is very useful for identification analysis, and that the information about polymorphism and mutation rate is necessary for forensic application in three nationality populations from China. [ABSTRACT FROM AUTHOR]

Nine non-combined DNA index system tetranucleotide short tandem repeat (STR) loci D2S1772, D6S1043, D7S3048, D8S1132, D11S2368, D12S391, D13S325, D18S1364, and GATA198B05 were amplified in a multiplex polymerase chain reaction system. The distribution of alleles of the nine STRs was reported from a Chinese Han population in Guangdong Province, Southern China. The combined power of exclusion in trios and duos for the nine loci was 0.999981 and 0.999025, respectively. Mutation rates range from 0 to 0.005618. Pairwise analysis of linkage disequilibrium, which included PowerPlex 16 System loci, did show statistically significant deviation from independence even though loci locate on the same chromosomes. The nine STRs are highly informative and suitable to extend the results obtained with other STRs commonly analyzed for difficult paternity and kinship analysis. [ABSTRACT FROM AUTHOR]

The Wharton’s Jelly (WJ) of the umbilical cord (UC) is an excellent source of mesenchymal stem cells (MSCs) with a range of potential therapeutic applications. The present study was conducted to demonstrate the efficiency of the protocols used by Biogenea-Cellgenea Ltd. for isolation and expansion of WJ MSCs from donors across Greece. Umbilical cord samples were collected from 599 females following childbirth and processed for WJ MSC isolation. Stem cells were expanded using DMEM-based media and cell counts and overall viability figures derived using Trypan blue exclusion. To investigate the application of isolation and expansion protocols on samples received 1, 2, 3, 4 and 5 d after their collection, ten fresh samples were processed at these time intervals and evaluated. The cellular yield of most WJ samples was 1.1–5.0 × 106 cells at 21–30 d after processing. As culture time increased, cell counts decreased. Statistical analysis of mean cell counts showed a significant reduction after 21 d. Finally, we demonstrate for the first time that it is possible to obtain satisfactory cell numbers from samples processed 1, 2, 3, 4 and even 5 d after collection. We have derived favourable data on the protocols used at Biogenea-Cellgenea Ltd. to isolate and culture MSCs from the WJ. Protocol choice is crucial when handling large numbers of samples on a daily basis and should be made to ensure the best possible outcome. [ABSTRACT FROM AUTHOR]

The article presents a study on allele frequencies of ten 10 short tandem repeats (STR) loci in the population in central Tunisia. It cites statistical parameters that were estimated for the loci, including the polymorphism information content (PIC). An ABI PRISM 310 Genetic Analyser from Applied Biosystems was used to examine polymerase chain reaction (PCR)-amplified fragments. The researchers also made use of the genetic data analysis GENEPOP to carry out statistical analysis.

In the prediction process of large-scale earthquake damage occurred in urban and rural regions, new models and approaches, which are different from traditional ones, should be adopted to rapidly predict earthquake damage. This article utilizes sampled population and buildings data that is easily available from the statistical database to conduct vulnerability analysis of buildings on the basis of earthquake damage of existing urban buildings in an analogical way, so as to provide a relation model between population data and disaster losses. In virtue of this model, the average vulnerability matrix of buildings of different structures in Fujian Province is established, the matrix adjustment coefficient of different decades is developed in accordance with the economic conditions, and the rapid evaluation system is set up as well. The result shows: this evaluation model, based on the population statistical data has merits as small investment, automatic data prediction, regular updates, as well as the advantage of easy accessibility. [ABSTRACT FROM AUTHOR]

Copyright of Canadian Journal of Public Health is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Austrian and Croatian Caucasian population data were generated for eight tetrameric STR loci amplified in a single multiplex reaction. Fluorescent detection was employed using the ABI Prism 310 Genetic Analyzer, the 377 DNA Sequencer (ABI) and the 373A DNA Sequencer (ABI). The loci analyzed were HUMvWFA31 (vWA), HUMTH01, HUMTPOX, HUMCSF1PO, D5S818, D13S317, D7S820 and D16S539 as part of the GenePrint PowerPlex multiplex system. [ABSTRACT FROM AUTHOR]

A new ten-locus STR (short tandem repeat) profiling system was recently introduced into casework by the Forensic Science Service (FSS) and statistical analyses are described here based on data collected using this new system for the three major racial groups of the UK: Caucasian, Afro-Caribbean and Asian (of Indo-Pakistani descent). Allele distributions are compared and the FSS position with regard to routine significance testing of DNA frequency databases is discussed. An investigation of match probability calculations is carried out and the consequent analyses are shown to provide support for proposed changes in how the FSS reports DNA results when very small match probabilities are involved. [ABSTRACT FROM AUTHOR]

The aim of this study was to estimate the allelic frequencies of the 15 short tandem repeat (STR) loci included in AmpFlSTR®Identifiler® PCR Amplification Kit. Biological samples were obtained from 109 unrelated individuals from El Salvador. Allelic frequencies and forensic parameters were calculated. All loci showed no departure from Hardy-Weinberg equilibrium after Bonferroni correction. The obtained frequencies were compared with other previously reported population data. The multidimensional scaling plot and the neighbor-joining phylogeny supported a high native Mesoamerican contribution. [ABSTRACT FROM AUTHOR]

Autosomal short tandem repeats (STRs) analysis represents the method of election in forensic genetics and up to now, 23 STRs are available for these purposes. However, in particular circumstances such as human identification or complex kinship cases, examination of additional STRs may be required in order to obtain reliable conclusions. For this purpose, a new multiplex STR system, namely Investigator® HDplex kit (QIAGEN) that coamplifies a set of 12 autosomal loci, 9 of which, represents novel supplementary STRs, was recently developed. A population sample of 359 unrelated healthy subjects residing in North Italy was typed to determine allele frequencies, forensic parameters and genetic distances among European populations. Furthermore, to evaluate the suitability of the HDplex kit as an auxiliary tool for paternity testing, mutation rates were estimated on 84 confirmed family trios. The 12 loci resulted highly informative with a combined power of discrimination of 0.999998 and no departures from Hardy-Weinberg equilibrium were observed with the sole exception of locus D4S2366. From the comparison of our population sample and European reference populations, a single significant difference was revealed with the Poland population at D4S2366 locus. With regard to the mutation rate study, on a total of 2,016 meioses considered, six single-step mutational events were observed and the average mutation rate calculated was of 2.94 × 10 per locus per generation (95 % confidence interval, 1.08 × 10-6.39 × 10). [ABSTRACT FROM AUTHOR]

Allele frequencies for the eight STR loci Hum-CSF1P0, F13A01, F13B, FES/FPS, LPL, TH01, TPOX and VWA were investigated in Japanese and Chinese populations. No significant deviations from Hardy-Weinberg equilibrium could be found for all loci. In the Japanese population VWA, CSF1PO, TH01, FES/FPS and TPOX were found to be useful for forensic applications and in the Chinese population, VWA, CSF1PO, TH01 and TPOX were found to be useful. Allele distributions were similar between both populations except for FES/FPS. [ABSTRACT FROM AUTHOR]

The STR locus D17S976 was investigated by PCR amplification and native polyacrylamide gel electrophoresis in 158 unrelated Austrian Caucasians. No deviations from Hardy-Weinberg expectations were observed. The mean exclusion chance was 0.792, the discriminating power was 0.980 and the observed heterozygosity rate was 0.873. Moreover two alternative denaturing electrophoretic protocols are proposed. An allelic ladder consisting of 14 sequenced alleles (236–288 bp) was constructed. Sequence analysis revealed that the locus contained three different repeat motifs: ATCA, ATCT and ACCT, all of which vary in number between alleles. The aggregate number of the three tetrameric repeat types was used for allele designation. As a repeat with a single base deletion (ATC) was found in both the smallest and the largest alleles, a “.3” was added to the allele designation in those cases. Therefore the smallest allele is designated 19.3, and the largest allele is designated 32.3. To evaluate the exact extent of sequence variation more extensive sequence studies are necessary. [ABSTRACT FROM AUTHOR]

Copyright of Rechtsmedizin is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)