Advances In Genetics Research Articles

Assessing the genetic diversity and character association of yield components in litchi (litchi chinensis sonn.)

Eighteen litchi genotypes were evaluated in this study for genetic advancement, heritability, variability, and association studies. The genotype ‘CHL-4’ exhibited maximum fruit weight (28.12 g), aril weight (14.00 g), aril thickness (9.65 mm) and seed weight (4.86 g). Fruit length (10.70 and 10.46%), panicle width (10.61 and 10.37%), and panicle length (15.75 and 15.45%) all had substantial phenotypic and genotypic coefficients of variation. All the metrics, with the exception of fruit diameter, aril thickness, seed weight, and number of fruits/panicle, showed higher heritability estimations with substantial genetic advances. In addition to being negatively correlated with fruit weight, aril weight, seed weight and pulp thickness, yield also showed a strong positive correlation with the number of fruits/panicle and aril percentage. Path analysis made the impact of different components on yield very evident. The maximum positive direct effect on yield at genotypic level was through fruit weight (10.120) followed by seed weight (4.070), panicle length (1.550), panicle girth (1.170) and negative direct effect via aril weight (-0.12.860) followed by panicle width (-11.830), fruit length (-6.290). In order to select a diverse parent for a subsequent breeding effort, cluster analysis assists in classifying comparable objects into appropriate categories. Therefore, the goal of the study was to confirm the genetic variability across genotypes of litchi and identify prospective features for the selection of genotypes that are superior. Bangladesh J. Bot. 53(3): 465-473, 2024 (September)

Quantitative assessment of the effects of rising temperature on the grain protein of winter wheat in china and its adaptive strategies

With advancements in genetics and technology, wheat yields have continuously increased, but grain quality has remained stagnant or even decreased in recent decades. The effects of temperature on the future grain quality of winter wheat in China are unknown. This study used an improved WheatGrow model, along with two future temperature scenarios, to quantify the regional impacts of temperature increases on grain protein in China and aimed to find effective strategies to adapt to the impact of temperature increases on quality. Compared with those in the baseline period, the protein concentration of wheat grains in the main winter wheat production region of China increased by 0.27% and 0.41% under the 1.5 ℃ and 2.0 ℃ temperature increase scenarios, respectively. However, the grain protein concentrations in the Sichuan Basin of Medium and Weak Gluten Wheat Subregion (Ⅴ) decreased. The temperature rise was estimated to increase the proportion of strong gluten-type wheat but reduce the proportion of medium gluten-type wheat, with the proportion of weak gluten-type wheat changing slightly. Advanced planting date was projected to increase the grain protein concentration in the Northern Strong Gluten Wheat Subregion (Ⅰ), the Northern of Huang-Huai Strong and Medium Gluten Wheat Subregion (Ⅱ), the Southern of Huang-Huai Medium Gluten Wheat Subregion (Ⅲ) and the Yangzi River of Medium and Weak Gluten Wheat Subregion (Ⅳ), whereas a delayed planting date reduced the protein concentration in subregions Ⅰ, Ⅱ, and Ⅲ. In addition, the grain protein concentration was not significantly affected in the higher high-temperature threshold varieties in the southern winter wheat production region under the global warming scenarios. However, if more strong gluten-type wheat is required in the northern China in the future, varieties with lower high-temperature thresholds can be selected without considering wheat yields. Moreover, increasing the nitrogen fertilizer application rate could further increase the wheat protein concentration under future warming scenarios, and the protein concentration of wheat was more sensitive to the nitrogen fertilizer application rate in the northern winter wheat production region than in the southern region. These findings are crucial for improving grain quality across different wheat production regions of China in the future.

Advancements in Lentil Genomics for Enhanced Crop Breeding: A Review

Lentil (Lens culinaris Medik) is an essential pulse crop that is widely grown for its high nutritional value, notably its high protein content, making it an important dietary component for vegetarians and vegans. Despite being the world's fifth most produced pulse, with large contributions from Canada and India, lentil production confronts obstacles such as poor productivity due to limited genetic improvement against biotic and abiotic stresses under rainfed cultivation conditions. Recent advances in lentil genetics and genomics, such as the discovery of genes related to yield, disease resistance, and nutritional content, have boosted breeding efforts to generate improved lentil varieties. The use of contemporary genomic techniques like molecular markers, marker-assisted selection (MAS), genomic selection (GS), and next-generation sequencing (NGS) technology has sped up the discovery of quantitative trait loci (QTLs) and the production of novel cultivars with superior agronomic characteristics. Databases such as NCBI and ENA, as well as specialized resources like KnowPulse, provide critical genomic data, while the creation of lentil genome assemblies, notably the CDC Redberry variety, has improved our understanding of lentil genetics. These resources help to solve the constraints of traditional breeding, particularly for complex characteristics impacted by genotype-environment interactions, opening the way for more robust and productive lentil varieties. Although the application of advanced tools such as genetic engineering, cisgenesis, and genome editing has moved more slowly in lentils than in other crops, their potential to improve lentil output is encouraging. Recent studies on lentil genomes, together with the creation of increased genetic resources and cutting-edge techniques, offer the ability to overcome production constraints and dramatically increase lentil production and quality throughout the world.

Navigating the Ethical Landscape of Xenotransplantation: A Metadata Analysis for Informed Decision-Making

Background: Xenotransplantation, the transfer of animal organs into humans, has gained attention as a solution to the global shortage of human organs for transplantation. Genetic advancements in donor animals, particularly pigs, offer potential to reduce immune rejection and improve compatibility.Objective: This review aimed to examine the scientific advancements, ethical concerns, and clinical outcomes of xenotransplantation, focusing on the use of genetically modified pigs.Methods: A review based on metadata analysis was conducted, adhering to PRISMA guidelines. The research question focused on the efficacy, safety, and ethical considerations of xenotransplantation. Databases including PubMed, Scopus, and Cochrane Library were searched using keywords such as "xenotransplantation," "genetic modification," "pig organ transplantation," and "immune rejection." Studies were screened based on eligibility criteria, including clinical trials and ethical analyses. Quality was assessed using the CASP tool, and data were synthesized from 27 studies.Results: Xenotransplantation from genetically modified pigs showed a reduction in immune rejection rates by 60% and decreased waiting times for organ transplants by up to 50%. Long-term graft survival remains uncertain, with a success rate of 70% in short-term trials.Conclusion: Xenotransplantation offers a promising solution to organ shortages, but further long-term studies and ethical evaluations are needed to ensure safety and acceptance.

Ethical Aspects of Human Genome Research in Sports-A Narrative Review.

Human genome research in sports raises complex ethical considerations regarding the intersection of genetics and athletic performance. Pursuing genetic enhancements must uphold fairness, equality, and respect for human dignity. This narrative review explores the ethical dimensions of human genome research in sports, its potential implications on athletes, and the integrity of sports. As a narrative review, this study synthesizes the existing literature and expert insights to examine the ethical aspects of human genome research in sports. This study extensively examined the current literature on genetics, sports performance, ethical concerns, human rights, and legal regulations within the European context. The literature was searched using the SPORTDiscus, Scopus, Google Scholar, and PubMed databases. Exploring human genome research in sports reveals significant ethical implications, including potential genetic discrimination, impacts on human rights, and creating a genetic underclass of athletes. There are also definite benefits surrounding genetic testing. In conclusion, this review contends that integrating ethical considerations into developing and applying genetic technologies in sports is crucial to upholding fundamental principles of fairness, equality, and respect for human dignity. It stresses the importance of open and inclusive dialogue about the potential consequences of genetic advancements on athletic performance, future generations, and the integrity of sports.

Innovations in Sericulture an Advancements in Silk Production and Quality Improvement

Sericulture, the cultivation of silkworms for silk production, has a long and significant history, particularly in rural economies. In recent years, the industry has undergone transformative innovations that have enhanced efficiency, sustainability, and silk quality. This review explores key advancements in sericulture, focusing on technological innovations, genetic improvements, sustainable farming practices, and the role of biotechnology in reshaping the industry. Notable technological developments, such as automated silk reeling machines and climate-controlled rearing houses, have streamlined production, reducing labor demands while ensuring consistent silk quality. Additionally, digital monitoring systems now allow for real-time tracking of silkworm health and environmental conditions, empowering farmers with data-driven insights for better management. Genetic advancements, including selective breeding and genetic engineering, have led to high-yield, disease-resistant silkworm strains, significantly boosting silk output and quality. Moreover, innovations in producing naturally colored silk via genetic modification have minimized the need for chemical dyes, reducing the environmental footprint of the dyeing process. Sustainability has become a focal point, with organic farming methods, integrated pest management (IPM), and waste recycling practices becoming more widespread. These practices not only safeguard the environment but also enhance the economic viability of sericulture, benefiting rural communities and driving social development. Biotechnology has expanded the horizon of sericulture, enabling the engineering of silk proteins and the creation of transgenic silkworms for specialized medical and industrial applications. Overall, these advancements have transformed sericulture into a more efficient, sustainable, and economically viable industry, offering significant benefits to both global silk markets and rural livelihoods.

The Biology, Impact, and Management of Xyleborus Beetles: A Comprehensive Review.

Xyleborus beetles, a diverse group of ambrosia beetles, present challenges to forestry and agriculture due to their damaging burrowing behavior and symbiotic relationships with fungi. This review synthesizes current knowledge on the biology, ecology, and management of Xyleborus. We explore the beetles' life cycle, reproductive strategies, habitat preferences, and feeding habits, emphasizing their ecological and economic impacts. Control and management strategies, including preventive measures, chemical and biological control, and integrated pest management (IPM), are critically evaluated. Recent advances in molecular genetics and behavioral studies offer insights into genetic diversity, population structure, and host selection mechanisms. Despite progress, managing Xyleborus effectively remains challenging. This review identifies future research needs and highlights innovative control methods, such as biopesticides and pheromone-based trapping systems.

Identification of transcription factors associated with leaf senescence in tobacco

Leaf senescence represents the final stage of leaf development, involving transcription factors (TFs)-mediated genetic reprogramming events. The timing of crop leaf senescence has a major influence on the yield and quality of crop in agricultural production. As important regulator of plant growth, the significance of TFs in the regulation of leaf senescence have been highlighted in various plant species by recent advances in genetics. However, studies on underlying molecular mechanisms are still not adequately explained. In this study, for analyzing the regulation of TFs on senescence of tobacco leaves, we combined gene differential expression analysis with weighted gene co-expression network analysis (WGCNA) to analyze the time-series gene expression profiles in senescing tobacco leaf. Among 3517 TF genes expressed in tobacco leaves, we identified 21, 35, and 183 TFs that were associated with early, middle, and late stages of tobacco leaf senescence, respectively. The Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) annotation results reveal that these senescence response TFs are correlated with several biological pathways such as plant hormone signal transduction, ubiquitin mediated proteolysis and MAPK signaling pathway, indicating the roles of TFs in regulating leaf senescence. Our results provide implications for future studies of the potential regulatory mechanisms of TFs involved in senescence of tobacco leaves.

Tissue-aware interpretation of genetic variants advances the etiology of rare diseases.

Pathogenic variants underlying Mendelian diseases often disrupt the normal physiology of a few tissues and organs. However, variant effect prediction tools that aim to identify pathogenic variants are typically oblivious to tissue contexts. Here we report a machine-learning framework, denoted "Tissue Risk Assessment of Causality by Expression for variants" (TRACEvar, https://netbio.bgu.ac.il/TRACEvar/ ), that offers two advancements. First, TRACEvar predicts pathogenic variants that disrupt the normal physiology of specific tissues. This was achieved by creating 14 tissue-specific models that were trained on over 14,000 variants and combined 84 attributes of genetic variants with 495 attributes derived from tissue omics. TRACEvar outperformed 10 well-established and tissue-oblivious variant effect prediction tools. Second, the resulting models are interpretable, thereby illuminating variants' mode of action. Application of TRACEvar to variants of 52 rare-disease patients highlighted pathogenicity mechanisms and relevant disease processes. Lastly, the interpretation of alltissue models revealed that top-ranking determinants of pathogenicity included attributes of disease-affected tissues, particularly cellular process activities. Collectively, these results show thattissue contexts and interpretable machine-learning models can greatly enhance the etiology of rare diseases.

Biomarkers of neurodegeneration across the Global South.

Research on neurodegenerative diseases has predominantly focused on high-income countries in the Global North. This Series paper describes the state of biomarker evidence for neurodegeneration in the Global South, including Latin America, Africa, and countries in south, east, and southeast Asia. Latin America shows growth in fluid biomarker and neuroimaging research, with notable advancements in genetics. Research in Africa focuses on genetics and cognition but there is a paucity of data on fluid and neuroimaging biomarkers. South and east Asia, particularly India and China, has achieved substantial progress in plasma, neuroimaging, and genetic studies. However, all three regions face several challenges in the form of a lack of harmonisation, insufficient funding, and few comparative studies both within the Global South, and between the Global North and Global South. Other barriers include scarce infrastructure, lack of knowledge centralisation, genetic and cultural diversity, sociocultural stigmas, and restricted access to tools such as PET scans. However, the diverse ethnic, genetic, economic, and cultural backgrounds in the Global South present unique opportunities for bidirectional learning, underscoring the need for global collaboration to enhance the understanding of dementia and brain health.

367 Changing the conversation: Evaluating feedyard closeouts and the beef system on a carcass basis

Abstract Beef cattle genetics, management, technologies and nutritional strategies are ever evolving, and current US trends favor feeding cattle to heavier carcass endpoints and optimizing quality grade. The average number of days on feed (DOF) in the US has increased year after year, averaging 195 and 183 DOF for steers and heifers, respectively, as reported by Elanco Benchmark data in 2021. As DOF increase, cattle live performance, including average daily gain and feed efficiency decline; however, hot carcass weight (HCW) becomes significantly heavier. Although a reduction in live feed conversion occurs as cattle are fed for extended DOF, the kilograms of additional live gain that result as kilograms of gain on the carcass, termed carcass transfer, increase linearly. As DOF are extended, carcass transfer has been reported to increase up to 88 %. As a result of genetic advancements, technologies, and feeding longer, HCW has trended heavier over the last 60 yr, with 2024 USDA HCW reported for April as 11.3 and 9.5 kg heavier for steers and heifers, respectively, year after year. According to mandatory price reporting data, approximately 74 % of fat cattle marketed in the US are sold as dressed beef. As we continue to feed to heavier endpoints and longer DOF, the profitability of selling on a carcass-basis increases. With the increase in carcass transfer as DOF extend, this presentation will attempt to address that cattle live performance should be adjusted to a carcass-basis for feedyards to appropriately capture the inflection point at which cost of additional gain equals the price received for the additional gain.

Development of a haplotype reference panel and analysis of genetic structure in Golden Pompano (Trachinotus ovatus)

Trachinotus ovatus, a valuable marine fish, is primarily farmed in the South China Sea. Intensive aquaculture can lead to genetic uniformity and disease risks. Additionally, the high cost of genome sequencing restricts knowledge of genetic variation, hindering genetic analysis and breeding advancements. This study investigated the genetic diversity and structure of Trachinotus ovatus populations within the South China Sea aquaculture context, with the goal of strengthening sustainability. Additionally, the study also enhanced breeding strategies by developing a high-quality haplotype reference panel and an efficient imputation process. Through high-throughput sequencing (depth＞20X), 173 samples from three key breeding sites (SanYa, Hainan; Zhanjiang, Guangdong; and Beihai, Guangxi) were analyzed, revealing substantial genetic diversity and distinct population structures. Notably, the Beihai (BH) population exhibited significant stratification, suggesting regional genetic uniqueness. Low levels of genomic inbreeding coefficient and the identification of unique SNP loci across populations underscored the genetic richness within these Trachinotus ovatus communities. A major constructed of this work is the creation of the first high-quality haplotype reference panel for the species, demonstrating genotype imputation's viability as a cost-effective alternative for large-scale genetic studies in aquaculture. In particular, a Shapeit reference panel with 5476,550 SNPs was created, excelling in accuracy across various depths, notably achieving up to 95.8 % imputation accuracy at 1X sequencing depth. This high accuracy across populations shows the importance of genetic diversity in the panel. This research not only advances the understanding of Trachinotus ovatus genetic foundations but also provides crucial insights for conservation efforts and genetic analysis. By establishing a robust haplotype reference panel for Trachinotus ovatus helps lower the costs of future genetic research and variation studies, this study lays the foundation for sustainable aquaculture practices and breeding programs.

Advances in retina genetics: Progress, potential, and challenges.

The field of retinal genetics has seen remarkable advancements lately, reshaping our understanding of various retinal conditions, including age-related macular degeneration, diabetic retinopathy, and inherited retinal dystrophies. The purpose of this review is to provide an overview of the current status of genetics in the retina, covering the progress made, the expected future developments, and the challenges yet to be overcome. We highlight key advancements such as the advent of next-generation sequencing, which has exponentially enhanced the discovery of genetic mutations, thus also enabling personalized medicine/therapeutic approaches. Stem cells, gene augmentation, and gene-editing techniques such as CRISPR/Cas9 are discussed, in which we highlight ongoing research as well as their potential in the targeted treatment of retinal diseases. Despite these promising advancements, the field faces significant challenges, such as the complex interpretation of genetic data, ethical considerations, and the translational gap from bench to bedside. This review serves as a comprehensive guide not only to ophthalmologists but also to other healthcare professionals, scientists, and policymakers, providing insights into the rapidly evolving landscape of retinal genetics. It aims to stimulate further research and collaboration to surmount existing challenges and harness the full potential of genetic advancements for retinal health.

High Diagnostic Yield and Clinical Utility of Next-Generation Sequencing in Children with Epilepsy and Neurodevelopmental Delays: A Retrospective Study.

Advances in genetics led to the identification of hundreds of epilepsy-related genes, some of which are treatable with etiology-specific interventions. However, the diagnostic yield of next-generation sequencing (NGS) in unexplained epilepsy is highly variable (10-50%). We sought to determine the diagnostic yield and clinical utility of NGS in children with unexplained epilepsy that is accompanied by neurodevelopmental delays and/or is medically intractable. A 5-year retrospective review was conducted at the American University of Beirut Medical Center to identify children who underwent whole exome sequencing (WES) or whole genome sequencing (WGS). Data on patient demographics, neurodevelopment, seizures, and treatments were collected. Forty-nine children underwent NGS with an overall diagnostic rate of 68.9% (27/38 for WES, and 4/7 for WGS). Most children (42) had neurodevelopmental delays with (18) or without (24) refractory epilepsy, and only three had refractory epilepsy without delays. The diagnostic yield was 77.8% in consanguineous families (18), and 61.5% in non-consanguineous families (26); consanguinity information was not available for one family. Genetic test results led to anti-seizure medication optimization or dietary therapies in six children, with subsequent improvements in seizure control and neurodevelopmental trajectories. Not only is the diagnostic rate of NGS high in children with unexplained epilepsy and neurodevelopmental delays, but also genetic testing in this population may often lead to potentially life-altering interventions.

Genetic advances in neurodevelopmental disorders

Abstract Neurodevelopmental disorders (NDDs) are a group of highly heterogeneous diseases that affect children’s social, cognitive, and emotional functioning. The etiology is complicated with genetic factors playing an important role. During the past decade, large-scale whole exome sequencing (WES) and whole genome sequencing (WGS) have vastly advanced the genetic findings of NDDs. Various forms of variants have been reported to contribute to NDDs, such as de novo mutations (DNMs), copy number variations (CNVs), rare inherited variants (RIVs), and common variation. By far, over 200 high-risk NDD genes have been identified, which are involved in biological processes including synaptic function, transcriptional and epigenetic regulation. In addition, monogenic, oligogenic, polygenetic, and omnigenic models have been proposed to explain the genetic architecture of NDDs. However, the majority of NDD patients still do not have a definitive genetic diagnosis. In the future, more types of risk factors, as well as noncoding variants, are await to be identified, and including their interplay mechanisms are key to resolving the etiology and heterogeneity of NDDs.

Idiopathic Inflammatory Myopathies-associated Interstitial Lung Disease in Adults.

Idiopathic inflammatory myopathies (IIM) are a heterogeneous group of autoimmune diseases characterized by muscle involvement and various extramuscular manifestations. Interstitial lung disease (ILD) is one of the most common extramuscular manifestations of IIM and is associated with significant mortality and morbidity. The clinical phenotypes, treatment responses, and prognosis of IIM-ILD are significantly related to myositis-specific antibody (MSA) profiles, with some racial differences. The features associated with MSA in IIM-ILD could also be relevant to cases of ILD where MSA is present but does not meet the criteria for IIM. The anti-melanoma differentiation-associated gene 5 antibody is highly associated with rapidly progressive ILD (RP-ILD), especially in Asian populations, and with characteristic cutaneous manifestations, such as skin ulcers. Radiologically, ground-glass opacities, consolidations, and nonsegmental linear opacities were more predominant than reticular opacities and honeycombing. While the mortality rate is still around 30%, the prognosis can be improved with early intensive therapy with corticosteroids and multiple immunosuppressants. In contrast, anti-aminoacyl-tRNA synthetase (ARS) antibodies are associated with chronic ILD, although RP-ILD is also common. Patients with anti-ARS antibodies often show lung-predominant presentations, with subtle muscle and skin involvement. Radiologically, reticular opacities, with or without consolidation, are predominant and may progress to honeycombing over time. Combination therapy with corticosteroids and a single immunosuppressant is recommended to prevent relapses, which often lead to a decline in lung function and fatal long-term outcomes. Significant advances in immunology and genetics holds promise for fostering more personalized approaches to managing IIM-ILD.

Update: the role of epigenetics in the metabolic memory of diabetic complications.

Diabetes, a chronic disease characterized by hyperglycemia, is associated with significantly accelerated complications, including diabetic kidney disease (DKD), which increases morbidity and mortality. Hyperglycemia and other diabetes-related environmental factors such as overnutrition, sedentary lifestyles, and hyperlipidemia can induce epigenetic changes. Working alone or with genetic factors, these epigenetic changes that occur without alterations in the underlying DNA sequence, can alter the expression of pathophysiological genes and impair functions of associated target cells/organs, leading to diabetic complications like DKD. Notably, some hyperglycemia-induced epigenetic changes persist in target cells/tissues even after glucose normalization, leading to sustained complications despite glycemic control, so-called metabolic memory. Emerging evidence from in vitro and in vivo animal models and clinical trials with subjects with diabetes identified clear associations between metabolic memory and epigenetic changes including DNA methylation, histone modifications, chromatin structure, and noncoding RNAs at key loci. Targeting such persistent epigenetic changes and/or molecules regulated by them can serve as valuable opportunities to attenuate, or erase metabolic memory, which is crucial to prevent complication progression. Here, we review these cell/tissue-specific epigenetic changes identified to-date as related to diabetic complications, especially DKD, and the current status on targeting epigenetics to tackle metabolic memory. We also discuss limitations in current studies, including the need for more (epi)genome-wide studies, integrative analysis using multiple epigenetic marks and Omics datasets, and mechanistic evaluation of metabolic memory. Considering the tremendous technological advances in epigenomics, genetics, sequencing, and availability of genomic datasets from clinical cohorts, this field is likely to see considerable progress in the upcoming years.

Identification of specific injury-related SNPs in high-level athletes of Arab origin: A pilot study

Valuable insights for preventing sports injuries in athletes have been achieved through advancements in genetics. This study aimed to determine the allelic frequency of distinct single nucleotide polymorphisms (SNPs) in a group of high-level athletes of Arab origin and to explore whether any significant relationship exists between specific genotypes in the selected SNPs with the prevalence and severity of non-contact soft tissue injuries (NCSTIs) and stress fracture injuries (SFIs). A cohort of 30 Arab male adult athletes trained at the same Sports excellence Centre from various individual sports was recruited and genotyped for collagen type 5 alpha 1 (COL5A1) rs12722 and vitamin D receptor (VDR) rs10735810 variants. The injury data of participant athletes were collected over two training seasons and categorized according to the site and type (muscle, tendon, ligament, or stress fracture) and severity (mild, moderate, or severe). For the COL5A1 rs12722, the examined genotypes were not related to the NCSTIs occurrence, while for VDR rs10735810, the CT and TT genotypes showed a prevalence for increased stress fracture injuries (RR = 7.72; 95 % CI: 1.66–35.87; p = 0.011 and RR = 9.93; 95 % CI: 2.83–34.89; p < 0.001, respectively), and increased odds for severe stress fractures (OR = 10.91, 95 % CI: 1.34–126.92, p = 0.033). This pilot study indicates a possible association between specific genotypes in the examined polymorphisms and the prevalence and severity of NCSTIs and SFIs. Given the constraints of the small sample size in the current study, additional research is required to gain a comprehensive understanding of this specific population.

The Prevalence of Cancer Predisposition Syndromes (CPSs) in Children with a Neoplasm: A Cohort Study in a Central and Eastern European Population.

The etiology of pediatric cancers is often unclear; however, advancements in genetics have identified significant roles for genetic disorders in their development. Over time, the number of cancer predisposition syndromes (CPSs) and awareness of them have increased, providing the possibility of cancer prevention and early detection. In this study, we present data concerning the number and type of oncological cases and their correlation with CPS occurrence in a cohort of Central and Eastern European pediatric patients. The data were collected between 2000 and 2019 at the Karol Jonscher Clinical Hospital of Poznan University of Medical Sciences, resulting in a cohort of 2190 cases in total, of which 193 children (8.81%) were confirmed to have a CPS. CPSs occurred most frequently in infancy (22.90% of all children suffering from any diagnosed cancer during the first year of life; p < 0.0001), accounting for more than one-quarter of all CPS cases in our cohort. CPSs were least likely to be observed in patients aged 14 and 15 years (2.17% and 2.44% of children diagnosed with any of the listed cancers at the exact age, respectively; p < 0.05). Among CPSs, the most common were neurofibromatosis type I (NF1), Li-Fraumeni syndrome (LFS), and Down syndrome (DS). To conclude, it is important to emphasize the need for personalized treatment for each patient affected by both CPSs and subsequent cancer in order to reduce the toxicity of therapy and improve quality of life by reducing the risk of side effects.

Application of microsatellites in population genetic studies of reindeer (Rangifer tarandus) (review)

Over a few past decades, theoretical, analytical, and methodological advances in genetics have revolutionized population genetic research, providing a better understanding of evolutionary processes and the history of populations and species. Methodologically, this progress is largely due to the invention of polymerase chain reaction technology and the introduction of microsatellite DNA markers. This review discusses trends in the use of microsatellite markers as effective tools for solving a wide range of issues in population genetics, conservation and evolutionary biology of the only species of the genus Rangifer – reindeer. Based on the analysis of both experimental and review publications (78 sources) of the scientific teams of the Russian Federation, Canada, the United States of America, Ireland, Japan, China, Norway the first works on the successful amplification of reindeer microsatellites have been summarized. There has been demonstrated the significance of the data of markers for studying intra- and inter-population diversity, differentiation, genetic relationships, the impact of anthropogenic factors on genetic diversity and genetic isolation of populations, as well as for reconstructing the evolutionary history of the various reindeer forms.