genetic markers
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BMC Medicine ◽  
2022 ◽  
Vol 20 (1) ◽  
Frances Theunissen ◽  
Loren L. Flynn ◽  
Ryan S. Anderton ◽  
P. Anthony Akkari

AbstractThere is considerable variability in disease progression for patients with amyotrophic lateral sclerosis (ALS) including the age of disease onset, site of disease onset, and survival time. There is growing evidence that short structural variations (SSVs) residing in frequently overlooked genomic regions can contribute to complex disease mechanisms and can explain, in part, the phenotypic variability in ALS patients. Here, we discuss SSVs recently characterized by our laboratory and how these discoveries integrate into the current literature on ALS, particularly in the context of application to future clinical trials. These markers may help to identify and differentiate patients for clinical trials that have a similar ALS disease mechanism(s), thereby reducing the impact of participant heterogeneity. As evidence accumulates for the genetic markers discovered in SQSTM1, SCAF4, and STMN2, we hope to improve the outcomes of future ALS clinical trials.

Diogo Freitas-Souza ◽  
André Batista Nobile ◽  
Fernanda Dotti do Prado ◽  
Érica Alves Serrano ◽  
Felipe Pontieri Lima ◽  

Genes ◽  
2022 ◽  
Vol 13 (1) ◽  
pp. 141
Torben Tvedebrink

The inference of ancestry has become a part of the services many forensic genetic laboratories provide. Interest in ancestry may be to provide investigative leads or identify the region of origin in cases of unidentified missing persons. There exist many biostatistical methods developed for the study of population structure in the area of population genetics. However, the challenges and questions are slightly different in the context of forensic genetics, where the origin of a specific sample is of interest compared to the understanding of population histories and genealogies. In this paper, the methodologies for modelling population admixture and inferring ancestral populations are reviewed with a focus on their strengths and weaknesses in relation to ancestry inference in the forensic context.

2022 ◽  
Qichao Lian ◽  
Victor Solier ◽  
Birgit Walkemeier ◽  
Bruno Huettel ◽  
Korbinian Schneeberger ◽  

Meiotic recombination frequency varies along chromosomes and strongly correlates with sequence divergence. However, the causality underlying this correlation is unclear. To untangle the relationship between recombination landscapes and polymorphisms, we characterized the genome-wide recombination landscape in the absence of polymorphisms, using Arabidopsis thaliana homozygous inbred lines in which a few hundred genetic markers were introduced through mutagenesis. We found that megabase-scale recombination landscapes in inbred lines are strikingly similar to the recombination landscapes in hybrids, with the sole exception of heterozygous large rearrangements where recombination is prevented locally. In addition, we found that the megabase-scale recombination landscape can be accurately predicted by chromatin features. Our results show that polymorphisms are not causal for the shape of the megabase-scale recombination landscape, rather, favor alternative models in which recombination and chromatin shape sequence divergence across the genome.

V. A. Bekenev ◽  
V. I. Frolova ◽  
I. V. Bolshakova ◽  
Yu. V. Frolova ◽  
V. S. Deeva ◽  

   The authors presented the results of experimental studies on the stress-resistant of pigs. The first group is a breed created in Sapphire Ltd. This breed is a breeding group (BG) in purebred breeding and their mixtures in two- and three-breed combinations with Landrace (L) and Duroc (D) boars under conditions of industrial farm technology in Siberia. Two methods assessed stress-resistant of piglets of different breed groups. The first method is “weaning crisis”. The second method is a com-parison of cortisol levels in the blood. Three-breed weanling piglets (SGxL)xD turned out to be the most stress-sensitive. Stress-resistant piglets had an effect on their growth during the rearing period. During this period, stress-resistant animals of all breed combinations had higher average daily gain than stress-sensitive animals (P < 0.001). Stress-resistant animals of the breeding group (SG) showed an average daily growth of 547.5 g during the fattening period. Also, the stress-resistant animals of the breeding group reliably surpassed the stress-sensitive pigs by 461.4 g (P < 0.01), the two-breed pigs by 455.9 g and 404.7 g and the three-breed pigs 451.8 g and 419.2 g, respectively. There was a statistically significant advantage in the indices of the average daily gain among the purebred young-sters of the breeding group (SG) (543 g) compared to the two-breed pigs (447g) and the three-breed pigs (402g), i. e., by 17.8 % and 26 % at P < 0.001. The authors found that the EAAcr/- genotype in stress-sensitive pigs was more common than EAA-/(0.71 ± 0.07 vs 0.48 ± 0.09). Stress-resistant pigs of the breeding group (SG) with EAE edg/edf blood group genotypes were characterized by increased growth intensity and reliable superiority over stress-sensitive pigs. The authors believe that these genotypes can be accepted as preliminary candidates for genetic markers of stress resistant. Blood cortisol levels appeared to be unrelated to stress-resistant compared to the “weaning crisis” method. This relationship (blood cortisol level with stress-resistant) applies to all studied breed combinations, both individually and as a whole.

2022 ◽  
Yu Zhang ◽  
Qiaoqiao He ◽  
Xixi Zhou ◽  
Yewen Wang ◽  
Peijiang Li ◽  

Abstract Background: The Qinba region is the transition region between Indica and Japonica varieties in China. It has a long history of Indica rice planting of more than 7000 years and is also a planting area for fine-quality Indica rice. The aims of this study are to explore different genetic markers applied to the analysis population structure, genetic diversity, selection and optimization of molecular markers of Indica rice, thus providing more information for the protection and utilization on germplasm resources of Indica rice. Methods: 15 phenotypic traits, a core set of 48 SSR markers as well as SNPs data obtained by genotyping-by-sequencing (GBS, NlaIII and MseI digestion, referred to as SNPs-NlaIII and SNPs-MseI, respectively) for this panel of 93 samples using the Illumina HiSeq2000 sequencing platform, were employed to explore the genetic diversity and population structure of 93 samples.Results: The average of coefficient of variation (CV) and diversity index (He) were 29.72% and 1.83 ranging from 3.07% to 137.43%, and from 1.45 to 2.03, respectively. The correlation coefficient between 15 phenotypic traits ranged from 0.984 to -0.604. The first four PCs accounted for 70.693% phenotypic variation based on phenotypic analysis. A total of 379 alleles were obtained using SSR markers, encompassing an average of 8.0 alleles per primer. Polymorphic bands (PPB) and polymorphism information content (PIC) was 88.65% and 0.77, respectively. The Mantel test showed that the correlation between the genetic distance matrix based on SNPs-NlaIII and SNPs-MseI was the largest (R2=0.88), and that based on 15 phenotypic traits and SSR was the smallest (R2=0.09). The 93 samples could be clustered into two subgroups by 3 types of genetic markers. Molecular variance analysis revealed that the genetic variation was 2% among populations and 98% within populations (the Nm was 0.16), Tajima’s D value was 1.66, the FST between the two populations was 0.61 based on 72,824 SNPs. Conclusions: The population genetic variation explained by SNPs was larger than that explained by SSRs. The gene flow of 93 samples used in this study was larger than that of naturally self-pollinated crops, which may be caused by long-term breeding selection of Indica rice in the Qinba region. The genetic structure of the 93 samples was simple and lacked rare alleles.

2022 ◽  
Brendan Fries ◽  
Benjamin J. K. Davis ◽  
Anne E. Corrigan ◽  
Angelo DePaola ◽  
Frank C. Curriero

The Pacific Northwest (PNW) is one of the largest commercial harvesting areas for Pacific oysters (Crassostrea gigas) in the United States. Vibrio parahaemolyticus, a bacterium naturally present in estuarine waters, accumulates in shellfish and is a major cause of seafood-borne illness. Growers, consumers, and public-health officials have raised concerns about rising vibriosis cases in the region. V. parahaemolyticus genetic markers (tlh, tdh, trh) were estimated using an MPN-PCR technique in Washington State Pacific oysters regularly sampled between May and October from 2005 to 2019 (N=2,836); environmental conditions were also measured at each sampling event. Multilevel mixed-effects regression models were used to assess relationships between environmental measures and genetic markers as well as genetic marker ratios (trh:tlh, tdh:tlh, and tdh:trh), accounting for variation across space and time. Spatial and temporal dependence were also accounted for in the model structure. Model fit improved when including environmental measures from previous weeks (1-week lag for air temperature, 3-week lag for salinity). Positive associations were found between tlh and surface water temperature, specifically between 15°C and 26°C, and between trh and surface water temperature up to 26°C. tlh and trh were negatively associated with 3-week lagged salinity in the most saline waters (> 27 ppt). There was also a positive relationship between tissue temperature and tdh, but only above 20°C. The tdh:tlh ratio displayed analogous inverted non-linear relationships as tlh. The non-linear associations found between the genetic targets and environmental measures demonstrate the complex habitat suitability of V. parahaemolyticus. Additional associations with both spatial and temporal variables also suggest there are influential unmeasured environmental conditions that could further explain bacterium variability. Overall, these findings confirm previous ecological risk factors for vibriosis in Washington State, while also identifying new associations between lagged temporal effects and pathogenic markers of V. parahaemolyticus.

Lin Li ◽  
Lauren Mazurowski ◽  
Aimee Dewan ◽  
Madeline Carine ◽  
Laura Haak ◽  

2021 ◽  
Vol 56 (6) ◽  
pp. 1031-1048
M.I. Selionova ◽  

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