scholarly journals Genetic analysis of the human remains of the burials of the 17th–18th centuries of the Corpus Christi Church in Nesvizh (Belarus)

2021 ◽  
Vol 65 (2) ◽  
pp. 199-206
Author(s):  
M. N. Shapturenko ◽  
A. V. Lugovnjov ◽  
S. R. Borovko ◽  
M. M. Pamazanau ◽  
S. I. Vakula ◽  
...  
Keyword(s):  
High Probability ◽  
Forensic Genetics ◽  
Genetic Material ◽  
Hair Color ◽  
Kinship Analysis ◽  
Eye Color ◽  
Corpus Christi ◽  
Light Skin ◽  
Three Samples ◽  
High Degree

During archaeological excavation in the territory of the Corpus Christi Church in Nesvizh, the regular burials dated to the 17th–18th centuries were discovered. The genetic material extracted from the bones of seven unidentified individuals was analyzed using the forensic genetics approaches, including STR profiling and DNA phenotyping. The genetic examination revealed that the remains of three samples (#1, #2, #6) belonged to women, and the four others (#3, #4, #5, and #7) belonged to men. Autosomal STR-data and Y-chromosomal profiles were obtained for five samples. The kinship analysis excluded that woman #1 and men #3, #4, #5, #7 were first-degree relatives. According to the Y-STR profiles, men #3, #4, #7 referred to the haplogroup R1a, the haplotype of individual #5 corresponded to I2. The both haplogroups are widely represented in Eastern Europe, which, with a high degree of probability, suggests the Slavic origin of the individuals under investigation. To predict eye and hair color, we used the HIrisPlex DNA phenotyping system. The analysis gave the satisfactory results for woman #1 and man #7. In correspondence to the allelic variants of the 24 SNP system, woman #1 had an intermediate type of iris pigmentation and dark blond hair (p = 0.635) with dark shade (0.639), light skin tone, low tendency to sunburn, and a high probability of freckles and pigmented spots of the skin. For male #7, the HIrisPlex model predicted blue eye color with a high probability (p = 0.915), as well as blond hair color (p = 0.915) and light hair color shade (p = 0.962). Our data allow us to conclude that the unknown individuals under investigation have significant genetical and phenotypical similarity with the modern Belarusian population.

scholarly journals Forensic Genetics and Genotyping

2019 ◽  
Vol 20 (2) ◽  
pp. 75-86
Author(s):  
Katarina Vitoševic ◽  
Danijela Todorovic ◽  
Zivana Slovic ◽  
Radica Zivkovic-Zaric ◽  
Milos Todorovic
Keyword(s):  
Genetic Markers ◽  
Short Tandem Repeats ◽  
Tandem Repeats ◽  
Forensic Genetics ◽  
Personal Identification ◽  
Hair Color ◽  
Forensic Dna ◽  
Kinship Analysis ◽  
Dna Profile ◽  
Short Tandem

Abstract Forensic genetics represents a combination of molecular and population genetics. Personal identification and kinship analysis (e.g. paternity testing) are the two main subjects of forensic DNA analysis. Biological specimens from which DNA is isolated are blood, semen, saliva, tissues, bones, teeth, hairs. Genotyping has become a basis in the characterization of forensic biological evidence. It is performed using a variety of genetic markers, which are divided into two large groups: bi-allelic (single-nucleotide polymorphisms, SNP) and multi-allelic polymorphisms (variable number of tandem repeats, VNTR and short tandem repeats, STR). This review describes the purpose of genetic markers in forensic investigation and their limitations. The STR loci are currently the most informative genetic markers for identity testing, but in cases without a suspect SNP can predict offender’s ancestry and phenotype traits such as skin, eyes and hair color. Nowadays, many countries worldwide have established forensic DNA databases based on autosomal short tandem repeats and other markers. In order for DNA profile database to be useful at a national or international level, it is essential to standardize genetic markers used in laboratories.

scholarly journals Optimizing the genetic prediction of the eye and hair color for North Eurasian populations

BMC Genomics ◽  
2020 ◽  
Vol 21 (S7) ◽  
Author(s):  
Elena Balanovska ◽  
Elena Lukianova ◽  
Janet Kagazezheva ◽  
Andrey Maurer ◽  
Natalia Leybova ◽  
...  
Keyword(s):  
Forensic Genetics ◽  
Hair Color ◽  
Human Populations ◽  
The West ◽  
Genetic Studies ◽  
Eye Color ◽  
Border Regions ◽  
Intergenic Regions ◽  
North Eurasia ◽  
Color Prediction

Abstract Background Predicting the eye and hair color from genotype became an established and widely used tool in forensic genetics, as well as in studies of ancient human populations. However, the accuracy of this tool has been verified on the West and Central Europeans only, while populations from border regions between Europe and Asia (like Caucasus and Ural) also carry the light pigmentation phenotypes. Results We phenotyped 286 samples collected across North Eurasia, genotyped them by the standard HIrisPlex-S markers and found that predictive power in Caucasus/Ural/West Siberian populations is reasonable but lower than that in West Europeans. As these populations have genetic ancestries different from that of West Europeans, we hypothesized they may carry a somewhat different allele spectrum. Thus, for all samples we performed the exome sequencing additionally enriched with the 53 genes and intergenic regions known to be associated with the eye/hair color. Our association analysis replicated the importance of the key previously known SNPs but also identified five new markers whose eye color prediction power for the studied populations is compatible with the two major previously well-known SNPs. Four out of these five SNPs lie within the HERС2 gene and the fifth in the intergenic region. These SNPs are found at high frequencies in most studied populations. The released dataset of exomes from Russian populations can be further used for population genetic and medical genetic studies. Conclusions This study demonstrated that precision of the established systems for eye/hair color prediction from a genotype is slightly lower for the populations from the border regions between Europe and Asia that for the West Europeans. However, this precision can be improved if some newly revealed predictive SNPs are added into the panel. We discuss that the replication of these pigmentation-associated SNPs on the independent North Eurasian sample is needed in the future studies.

scholarly journals The COSMO-Spain Survey: Three First Rounds of the WHO Behavioral Insights Tool

2021 ◽  
Vol 9 ◽  
Author(s):  
Carmen Rodríguez-Blázquez ◽  
María Romay-Barja ◽  
María Falcón ◽  
Alba Ayala ◽  
Maria João Forjaz
Keyword(s):  
Risk Perception ◽  
Self Efficacy ◽  
Spanish Population ◽  
Psychological Variables ◽  
Loved One ◽  
Preventive Practices ◽  
Health Authorities ◽  
Three Samples ◽  
Containment Measures ◽  
High Degree

Objective: To describe changes in knowledge, attitudes and preventive practices (KAP), risk perception, and psychological variables of Spanish population toward the COVID-19 pandemic from July to November 2020.Methods: Three samples, each of one composed by 1,000+ persons aged 18 years or older, were interviewed online in three rounds, every 2 months, from July to November 2020.Results: The level of knowledge on COVID-19 was high in the three rounds, with percentages above 95% of correct answers related to ways of contagion and correct use of face masks. The most accepted measure was the mandatory use of face masks (80–86% of agreement in the three rounds, p = 0.001), followed by the night curfew (63% of agreement). Most participants (>80%) consistently reported using face masks, ventilating spaces, and washing or disinfecting hands. However, risk perception and self-efficacy were low. Worry about losing a loved one, the health system overload and people who do not wear face masks was high (>85% of the samples). The percentage of respondents who felt depressed due to COVID-19 increased from round 1 to round 3 (p = 0.044).Conclusions: Spanish population has a high degree of KAP, but a relatively low risk perception and self-efficacy. These findings can help health authorities to guide containment measures and campaigns addressed to improve preventive practices.

scholarly journals Body Mass Index and Its Association with Genetically Transmitted Traits

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Sultan Z. Alasmari ◽  
Nashwa Eisa ◽  
Saeed Mastour Alshahrani ◽  
Mohammad Mahtab Alam ◽  
Prasanna Rajagopalan ◽  
...  
Keyword(s):  
Body Mass Index ◽  
Body Mass ◽  
Female Students ◽  
Blood Type ◽  
Hair Color ◽  
Healthy Weight ◽  
Genetic Traits ◽  
Eye Color ◽  
Abo Blood Type ◽  
Chi Square Analysis

Background. Body mass index (BMI) is a metric widely used to measure the healthy weight of an individual and to predict a person’s risk of developing serious illnesses. Study the statistical association between genetically transmitted traits and BMI might be of interest. Objectives. The present study designed to extend the inadequate evidence concerning the influence of some genetically transmitted traits including ABO blood type, Rh factor, eye color, and hair color on BMI variation. Methods. A total of 142 undergraduate female students of the Department of Clinical Laboratory Sciences, Faculty of Applied Medical Sciences, King Khalid University, Abha, Saudi Arabia, were participated to investigate the possible linkage between genetic traits and BMI variations. Height and weight are collected from participants for BMI measurement. ABO blood type and Rh factor were determined by antisera. Results. Out of 142 female students, 48 were categorized in the first tertile (T1: less than 19.8 kg/m2), 50 were categorized in the second tertile (T2: between 19.8 and 23.7 kg/m2), and 44 were categorized in the third tertile (T3: greater than 23.7 kg/m2). Chi-square analysis shows that there were no associations of genetic traits including hair color, eye color, ABO blood type, and Rh blood type with BMI. However, a significant association between hair color and BMI was observed using multinomial logistic regression analysis. Conclusions. Our data provides a more robust prediction of the relative influence of genetic effects such as hair color on BMI. Future studies may contribute to identifying more association between genes involved in hair pigmentation and BMI variation.

scholarly journals Health status by gender, hair color, and eye color: Red-haired women are the most divergent

PLoS ONE ◽  
2017 ◽  
Vol 12 (12) ◽  
pp. e0190238 ◽  
Author(s):  
Peter Frost ◽  
Karel Kleisner ◽  
Jaroslav Flegr
Keyword(s):  
Health Status ◽  
Hair Color ◽  
Eye Color

scholarly journals P851 Effects of conservation time on the diversity and relative abundance of intestinal microbiome in samples of faecal matters

2020 ◽  
Vol 14 (Supplement_1) ◽  
pp. S655-S655
Author(s):  
M León F ◽  
C A Nieto ◽  
Z Corredor ◽  
C Flórez-Sarmiento ◽  
V Parra-Izquierdo ◽  
...  
Keyword(s):  
Dna Extraction ◽  
Relative Abundance ◽  
High Reliability ◽  
Genetic Material ◽  
Variable Region ◽  
Important Variable ◽  
Intestinal Microbiome ◽  
Three Samples ◽  
Stool Samples ◽  
Changes Over Time

Abstract Background Given the complexity and diversity of the intestinal microbiome, there is a technical challenge of finding the best way to study the factors that affect the quality of the sample to obtain results in a precise an complete way. Objective To establish the effect of storage time under constant cryopreservation conditions (−20°C) in stool samples for the study of the gastrointestinal microbiome Methods A sample of stool was distributed in 3 fractions (1, 2 and 3). Time 0 without cryopreservation and immediate DNA extraction (1). The samples of 15 (2) and 30 (3) days were cryopreserved at −20°C before the extraction of the genetic material. After ultracentrifugation at 4 degrees Celsius, the precipitate was subjected to enzymatic and mechanical lysis to obtain the total DNA. The DNA quality was evaluated techniques to ensure the quality and concentration of genetic material. Once the DNA of the three samples was obtained, they were subjected to the latest generation of a variable region of the 16S gene, using MiSeq technology (Illuminates). Data in relative abundances and frequencies were recorded. Project supported by the Administrative Department of Science, Technology and Innovation-Colciencias Health Call 2017, Code 130877757442 Results About 140 thousand readings were obtained for samples 1 (day 0) and 2 (day 15) and 160 thousand for sample 3 (day 30), with a reading quality Q20% between 97 and 98 and Q30% around 94, indicating a high-reliability value for each of the samples. Regarding the classification from the Operating Taxonomic Unit (OTU), 119, 99 and 106 were reported for samples 1, 2 and 3, respectively. The data obtained revealed changes over time at the level of the main edges reported for normal microbiome (Bacteroidetes, Firmicutes, Actinobacteria) between 1 and 2 vs. sample 3. For Firmicutes and Actinobacteria, decreases in abundance of 34% were observed (samples 1 and 2) at 20% for Firmicutes in sample 3 and from 4% (samples 1 and 2) to 0.8% (sample 3) for Actinobacteria. On the contrary, Bacteroidetes presented an increase in its abundance from 58% (Samples 1 and 2) to 76% (sample 3). The Proteobacterium edge did not show significant changes in its abundance Conclusion It was possible to demonstrate that the cryopreservation time before DNA extraction is an important variable that influences the percentage and integrity of the microbiota from faecal matter. Confirming that the maximum reliable shelf life at −20° in stool samples is up to 15 days, suggesting that for longer storage the temperature decrease up to −80° should be taken into account to maintain stability in the results of relative abundance and bacterial diversity

THE HEREDITY OF EYE COLOR AND HAIR COLOR IN MAN

1909 ◽  
Vol 18 (1) ◽  
pp. 50-65 ◽  
Author(s):  
S. J. HOLMES ◽  
H. M. LOOMIS
Keyword(s):  
Hair Color ◽  
Eye Color

scholarly journals Amphibians of the Sinos River Basin, southern Brazil

2021 ◽  
Vol 16 (3) ◽  
pp. 435-449
Author(s):  
Camila F. Moser ◽  
Renata K. Farina ◽  
Márcio Borges-Martins ◽  
Iberê F. Machado ◽  
Patrick Colombo ◽  
...  
Keyword(s):  
River Basin ◽  
High Probability ◽  
Southern Brazil ◽  
Rio Grande Do Sul ◽  
Natural Habitats ◽  
Amphibian Species ◽  
Relevant Role ◽  
Scientific Collections ◽  
High Degree ◽  
Collection Point

The Sinos River encompasses a wide area of natural habitats and, at the same time, supports one of the highest population densities of southern Brazil. Consequently, natural habitats along the Basin present a high degree of habitat disturbance. Despite of the existence of threatened species, information about diversity of amphibians in that area is scarce. Thus, we aimed to catalogue the amphibian species of the Sinos River Basin from records in scientific collections and compilation of published articles. We recorded 52 species, all with geographic coordinates validated at the collection point, indicating that the Sinos River Basin harbours about 50% of the amphibian species of the State of Rio Grande do Sul. Three anuran species were classified as having some degree of threat: Melanophryniscus cambaraensis, Melanophryniscus dorsalis and Thoropa saxatilis. We also expected other 18 species with a high probability of occurrence in the Basin. This work shows that, despite the intense human impact, the Sinos River Basin has a relevant role for the maintenance of a considerable fraction of the amphibian biodiversity in southern Brazil.

scholarly journals Correcting subtle stratification in summary association statistics

2016 ◽  
Author(s):  
Gaurav Bhatia ◽  
Nicholas A. Furlotte ◽  
Po-Ru Loh ◽  
Xuanyao Liu ◽  
Hilary K. Finucane ◽  
...  
Keyword(s):  
Skin Color ◽  
Population Stratification ◽  
Principal Component ◽  
European Ancestry ◽  
Hair Color ◽  
Large Sample Size ◽  
Summary Statistics ◽  
Adult Health ◽  
Eye Color ◽  
Spurious Signals

AbstractPopulation stratification is a well-documented confounder in GWASes, and is often addressed by including principal component (PC) covariates computed from common SNPs (SNP-PCs). In our analyses of summary statistics from 36 GWASes (mean n=88k), including 20 GWASes using 23andMe data that included SNP-PC covariates, we observed a significantly inflated LD score regression (LDSC) intercept for several traits—suggesting that residual stratification remains a concern, even when SNPPC covariates are included.Here we propose a new method, PC loading regression, to correct for stratification in summary statistics by leveraging SNP loadings for PCs computed in a large reference panel. In addition to SNP-PCs, the method can be applied to haploSNP-PCs, i.e. PCs computed from a larger number of rare haplotype variants that better capture subtle structure. Using simulations based on real genotypes from 54,000 individuals of diverse European ancestry from the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort, we show that PC loading regression effectively corrects for stratification along top PCs.We applied PC loading regression to several traits with inflated LDSC intercepts. Correcting for the top four SNP-PCs in GERA data, we observe a significant reduction in LDSC intercept height summary statistics from the Genetic Investigation of ANthropometric Traits (GIANT) consortium, but not for 23andMe summary statistics, which already included SNP-PC covariates. However, when correcting for additional haploSNP-PCs in 23andMe GWASes, inflation in the LDSC intercept was eliminated for eye color, hair color, and skin color and substantially reduced for height (1.41 to 1.16; n=430k). Correcting for haploSNP-PCs in GIANT height summary statistics eliminated inflation in the LDSC intercept (from 1.35 to 1.00; n=250k), eliminating 27 significant association signals including one at the LCT locus, which is highly differentiated among European populations and widely known to produce spurious signals. Overall, our results suggest that uncorrected population stratification is a concern in GWASes of large sample size and that PC loading regression can correct for this stratification.

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