Similar Genotypes Research Articles

Determination of Intra-population and Inter-cultivar Genetic Similarity of Tea Genotypes in Ordu Province

The establishment of tea gardens and tea production in Turkey began to spread after 1938 and became an important economic sector. The first tea gardens in Ordu province were established in 1960 in Perşembe district due to the expansion of the tea production area with a law enacted in 1951. Since this date, the production area and the number of producers began to develop rapidly. The tea production area in this district is between 250-800 m altitude, which is expressed as the middle and high region, and has a topographic area with variable slopes. Since the gardens established in Perşembe, as in other gardens in our country, are established with seeds, the plants differ from each other. This difference in the genetic structure of the plant is reflected in the product, namely the quality of the tea. Therefore, determining this difference is important. This study was conducted to determine the genetic diversity of the teas grown in Perşembe and the genetic relationship between intra-population and inter-cultivar. The plant materials used in the study were taken from different elevations and different gardens. 20 plant materials were collected to represent the study area. There are three standard varieties as control: Derepazarı7, Fener3 and Tuğlalı10. ISSR method was used in the study. Genetic diversity and related relationships were revealed in the study using 10 ISSR markers. According to the cluster analysis performed using UPGMA, significant differences were detected among individuals.

Between Volga and Ural River basins: concerning family ties of the Abashevo and Sintashta population of the Bronze Age in the context of genetic data

The focus of our study is the burials of two young men who died in distant lands (Middle Volga region and Southern Urals). Whole genome sequencing revealed a remarkable genetic similarity between the individuals and their potential decent from common ancestors. Men from the excavations of the Pepkino mound (burial No. 8, bronze caster) and buried No. 3 at the settlement of Maloyuldashevo 1 (sacrificed individual) were the owners of haplogroup R1b (Z2103) with a common paternal ancestor. The search of genome fragments identical by origin (IBD method — Identity-By-Descent) showed patterns inherited from a common ancestor without recombination. In a pairwise comparison of Pepkino caster with other samples, the probability of the occurrence of at least one IBD fragment in the genomes was more than 0.9 for both the Maloyldashevo sample, as well for a female (sample POST_131) from Southern Bavaria with close AMS date. Using the PCA method, we identified the owner of a similar genotype in a burial of the Sintashta culture (Kamennyi Ambar 5 burial ground, mound 2, burial 16), for which a mixed origin was previously established with the participation of West Siberian hunter-gatherers and steppe dwellers of the Bronze Age. In addition, among other genetic outliers of the same necropolis, there were men with haplogroup of the Y chromosome R1b, which brings them closer to the individuals we studied from the Pepkino mound and Maloyuldashevo settlement. Thus, the distribution of a mobile group has been shown, which was incorporated into different cultural traditions.

Utility of multimodal imaging in the clinical diagnosis of inherited retinal degenerations.

Inherited retinal degeneration (IRD) is a heterogeneous group of genetic disorders of variable onset and severity, with vision loss being a common endpoint in most cases. More than 50 distinct IRD phenotypes and over 280 causative genes have been described. Establishing a clinical phenotype for patients with IRD is particularly challenging due to clinical variability even among patients with similar genotypes. Clinical phenotyping provides a foundation for understanding disease progression and informing subsequent genetic investigations. Establishing a clear clinical phenotype for IRD cases is required to corroborate the data obtained from exome and genome sequencing, which often yields numerous variants in genes associated with IRD. In the current work, we review the use of contemporary retinal imaging modalities, including ultra-widefield and autofluorescence imaging, optical coherence tomography, and multispectral imaging, in the diagnosis of IRD.

Assessment of in vitro dynamics of pathogenic environmental Acanthamoeba T4 and T9 genotypes isolated from three recreational lakes in Klang Valley, Malaysia over the HaCaT cell monolayer.

Free-living amoebae of the genus Acanthamoeba are causative agents of keratitis and amoebic encephalitis. They are widely found in various ecological environments. Therefore, the present study brings results that can help to better understand the genotypes of the environmental isolates and their pathogenicity. This study procured 26 Acanthamoeba isolates from three recreational lakes in 2022. Polymerase chain reaction amplification was performed on positive Acanthamoeba samples. The thermotolerance, osmotolerance, and cytopathogenicity in human keratinocyte (HaCaT) cells of the samples were also evaluated. The phylogenetic analysis demonstrated that 12 isolates were of genotype T4, two (T9), six (T17), four (T8), and one each from T5 and T11. The thermo- and osmotolerance assays indicated that eight Acanthamoeba samples were potentially pathogenic. Two T4 and one T9 genotype also recorded 33-, 42-, and 133-kDa serine-type proteases, respectively. The HaCaT cell monolayer revealed that three T4 and one T9 samples achieved cytopathic effects within the 50-100% range, hence significantly cytotoxic. The lactate dehydrogenase secretion results demonstrated that three (T4) and one (T9) sample exhibited exceptional toxicity (over 40%) compared to the other samples. The responses of Acanthamoeba members with similar genotypes to pathogenicity indicator assays varied considerably, rendering correlation of pathogenicity with specific genotypes challenging.

Selection on sporulation strategies in a metapopulation can lead to coexistence.

In constant environments the coexistence of similar species or genotypes is generally limited. In a metapopulation context, however, types that utilize the same resource but are distributed along a competition-colonization trade-off, can coexist. Much thought in this area focuses on a generic trade-off between within-deme competitive ability and between-deme dispersal ability. We point out that the sporulation program in yeasts and other microbes can create a natural trade-off such that strains which initiate sporulation at higher rates suffer in terms of within-deme competition but benefit in terms of between deme dispersal. We develop metapopulation models where the within- deme behavior follows chemostat dynamics. We first show that the rate of sporulation determines the colonization ability of the strain, with colonization ability increasing with sporulation rate up to a point. Metapopulation stability of a single strain exists in a defined range of sporulation rates. We then use pairwise invasability plots to show that coexistence of strains with different sporulation rates generally occurs, but that the set of sporulation rates that can potentially coexist is smaller than the set that allows for stable metapopulations. We extend our pairwise results to show how a continuous set of strains can coexist and verify our conclusions with numerical calculations and stochastic simulations. Our results show that stable variation in sporulation rates is expected under a wide range of ecological conditions.

Error thresholds in the presence of epistatic interactions.

Models for viral populations with high replication error rates (such as RNA viruses) rely on the quasispecies concept, in which mutational pressure beyond the so-called "error threshold" leads to a loss of essential genetic information and population collapse, an effect known as the "error catastrophe." We explain how crossing this threshold, as a result of increasing mutation rates, can be understood as a second-order phase transition, even in the presence of lethal mutations. In particular, we show that, in fitness landscapes with a single peak, this collapse is equivalent to a ferroparamagnetic transition, where the back-mutation rate plays the role of the external magnetic field. We then generalize this framework to rugged fitness landscapes, like the ones that arise from epistatic interactions, and provide numerical evidence that there is a transition from a high average fitness regime to a low average fitness one, similarly to single-peaked landscapes. The onset of the transition is heralded by a sudden change in the susceptibility to variations in the mutation rate. We use insight from replica symmetry breaking mechanisms in spin glasses, in particular by considering the fluctuations of the genotype similarity distribution as the order parameter.

Genetic variability of bread wheat (Triticum aestivum L.) genotypes under drought conditions targeting the CWANA region

Drought stress limits grain yield in bread wheat, challenging agricultural productivity in regions like Morocco, where yields are below global standards. A gap in stable drought-tolerant varieties remains, requiring further research. This study evaluates 200 bread wheat genotypes under rain-fed and irrigated conditions (2020–2021) to identify candidates with improved drought tolerance. The research measured eight traits and used PCA, HCA, ANOVA, and Pearson correlation to identify key traits for drought tolerance, group similar genotypes, assess significant differences, and evaluate trait relationships. The results showed significant variation, with genotypes G150 and G57 yielding 4.03 t/ha and 4.0 t/ha, respectively, outperforming the average yield of 2.5 t/ha under drought stress. Notably, the days to heading at the Merchouch station (rainfed) exhibited the lowest coefficient of variation (CV) at 3.2 %, while the days to maturity at the Sidi Al-Aidi station (irrigated) showed the lowest CV at 2.5 %. The analysis revealed significant genotype-by-environment (G x E) interactions, underscoring the importance of selecting genotypes suitable for specific environmental conditions. Genotypes such as G150 and G57 demonstrated superior performance under drought stress, while others excelled in non-stress conditions. PCA identified key traits contributing to drought tolerance, including grain yield, biomass, and days to heading (r = 0.48), which were positively correlated with yield potential. Grain yield, a critical agronomic trait, showed moderate heritability, indicating both genetic and environmental influences. Identifying drought-tolerant genotypes offers valuable material for breeding programs to improve drought resilience and yield stability in the CWANA region, supporting food security amid changing climates.

Juvenile hormone as a key regulator for asymmetric caste differentiation in ants

Caste differentiation involves many functional traits that diverge during larval growth and metamorphosis to produce adults irreversibly adapted to reproductive division of labor. Investigating developmental differentiation is important for general biological understanding and has increasingly been explored for social phenotypes that diverge in parallel from similar genotypes. Here, we use Monomorium pharaonis ants to investigate the extent to which canalized worker development can be shifted toward gyne (virgin-queen) phenotypes by juvenile hormone (JH) treatment. We show that excess JH can activate gyne-biased development in workers so that wing-buds, ocelli, antennal and genital imaginal discs, flight muscles, and gyne-like fat bodies and brains emerge after pupation. However, ovary development remained unresponsive to JH treatment, indicating that JH-sensitive germline sequestration happens well before somatic differentiation. Our findings reveal important qualitative restrictions in the extent to which JH treatment can redirect larval development and that these constraints are independent of body size. Our findings corroborate that JH is a key hormone for inducing caste differentiation but show that this process can be asymmetric for higher colony-level germline versus somatic caste differentiation in superorganisms as defined a century ago by Wheeler. We quantified gene expression changes in response to JH treatment throughout development and identified a set of JH-sensitive genes responsible for the emergence of gyne-like somatic traits. Our study suggests that the gonadotropic role of JH in ovary maturation has shifted from the individual level in solitary insects to the colony level in an evolutionary-derived and highly polygynous superorganism like the pharaoh ant.

Major Histocompatibility Complex Class II Genes Allele Diversity in Landlocked Seals.

The allelic diversity of exon 2 (DQB gene) and exon 3 (DRB gene) of major histocompatibility complex class II was studied for the first time in two species of the landlocked pinnipeds, Baikal (N = 79) and Caspian (N = 32) seals, and these were in compared with the widespread Arctic species, the ringed seal (N = 13). The analysis of the second exon comprising the antigen-binding region revealed high allelic diversity in all three species but the pattern of the diversity was the most specific for the Baikal seal. This species differs from the other two by the smallest number of alleles in the population, yet they have the largest number of alleles per individual and by the maximum similarity of individual genotypes. Presumably, this specificity is a consequence of the spatial and temporal homogeneity of the Lake Baikal environment. Analysis of the third exon encoding the conserved β2-domain showed that the Baikal seal differs by the greatest number of amino acid sequences per individual, while the Caspian seal has the lowest number of variants. A single variant of the β2-domain, the same as in the ringed seal, predominates in the Caspian seal, whereas in the Baikal seal the two other variants predominate. At the same time, three species-specific amino acid sequences were observed among minor variants in the Caspian seal, while only one was found in the Baikal seal. This fact may suggest a longer period of independent evolution in the Caspian seal compared to the Baikal seal.

Genotyping and phylogenetic analysis of human Papillomaviruses from women with genital warts

Background and objectives. The pathophysiology of Human Papillomavirus (HPV) infections is dependent on the genotype of virus, the host immune system and the local environmental conditions. HPV infections are linked to a variety of benign and malignant disorders. Anogenital warts is a Sexually Transmitted Infection (STI) primarily caused by Low-Risk HPV (LR-HPV) genotypes 6 and 11. The aims were to Investigation of the prevalence and genotypic distribution of HPV in women with genital warts in Mosul/Iraq, HPV-DNA sequencing and Phylogenetic analysis including minimum spanning trees of amplified HPV L1 gene comparison the present sequences with similar genotypes in GenBank – National Center Biotechnology Information (NCBI) using mega-7-software. Materials and methods. A total of 150 samples were collected from women with genital wart infections. Polymerase Chain Reaction (PCR) was performed using GP+5/GP+6 and MY09/MY11 consensus primers. Results. About 84.6% prevalence of HPV genotypes. The highest frequency (32% and 28.6%) were observed in the 19-28 and 29-38 age groups. Conclusion. Women in Mosul, Iraq, who have genital warts are more likely to have different genotypes of HPV. HPV 11 type was found to be the most common, followed HPV6 and HPV10 as LR HPV, while HPV 16 and HPV45 were the most common as HR HPV. The analysis of the phylogenetic tree revealed a genetic relationship between our isolates and global isolates ranging from (10-100%) bootstrap ratio this indicating phylogenetic relationships (divergent and convergent evolution) this was meant the diversity in origin of the various genotypes common in Mosul, Iraq.

Taxonogenomic analysis of the Xanthomonas translucens complex leads to the descriptions of Xanthomonas cerealis sp. nov. and Xanthomonas graminis sp. nov.

The pathovar-based taxonomy of the Xanthomonas translucens group is very confusing due to an overlap of plant host ranges and level of host specificity. Here, whole-genome sequence-based parameters (digital DNA–DNA hybridization and blast-based average nucleotide identity), phylogenomic, biochemical and phenotypical data were used to taxonomically analyse the 11 known pathovars of the X. translucens complex. This polyphasic approach taxonomically assigned the 11 pathovars of X. translucens complex into three distinct species, two of which are new: X. translucens, X. cerealis sp. nov. and X. graminis sp. nov. X. translucens consists of three pathovars: pv. translucens (=pv. hordei), pv. pistaciae strain A ICMP 16316PT and pv. undulosa (=pv. secalis). X. cerealis sp. nov. encompasses the pv. cerealis strain LMG 679PT and pv. pistaciae strain B ICMP 16317PT with genome similarity of 92.7% (dDDH) and 99.0% (ANIb) suggesting taxonomically similar genotypes. The other new species, X. graminis sp. nov., consists of the remaining five designated pathovars (pv. graminis, pv. arrhenatheri, pv. poae, pv. phleipratensis and pv. phlei) with highly variable dDDH and ANIb values ranging from 74.5 to 93.0% and from 96.7 to 99.2%, respectively, an indication of a very divergent taxonomic group. Only strains of pvs. phlei and phleipratensis showed the highest genomic similarities of 93.0% (dDDH) and 99.2% (ANIb), suggesting synonymic pathovars as both infect the same plant hosts. The dDDH and ANI data were corroborated by phylogenomics clustering. The fatty acid contents were similar but the type strain of X. graminis sp. nov. exhibited 20% less C15 : 0 iso and 40% more C17 : 0 iso fatty acids than the other species. Based on phenotypic, biochemical and whole-genome sequence data, we propose two new species, Xanthomonas cerealis sp. nov. and Xanthomonas graminis sp. nov. with type strains LMG 679T (=NCPPB 1944T) and LMG 726T (=NCPPB 2700T), respectively.

Nearby and non-nested genes in the human genome have more similar genotype tissue expression.

Neighboring genes within a shared promoter arrangement (i.e. opposite direction with the neighboring ends as the transcriptional start sites) are expected to have a high similarity in genotype tissue expression due to the potential overlap in the promoter region. This raises the question of whether similarity in expression profiles depends on orientation of the neighboring genes and whether there exist thresholds of locality where the similarity diminishes. Thus, in this work, we compared genotype tissue expression profiles at different genomic orientations and localities. Interestingly, there exist gene pairs in the human genome with very high or low expression similarity. Shorter chromosomes tend to have more similarly expressed genes. Also, a cluster of 3 adjacent genes within the average range of 20 to 60 kilobase pairs can have very similar expression profiles regardless of their orientations. However, when genes are nested and in opposite orientations, a lower than expected similarity was observed. Lastly, in cases where genotype tissue expression data does not exist or have low read counts (e.g. non-coding RNA), our identified influencing range can be a first estimate of the genotype tissue expression.

Enhancing genetic diversity in Pelargonium: insights from crossbreeding in the gene pool.

This study aimed to enrich the Pelargonium gene pool through crosses and assess genetic variation among 56 genotypes from five Pelargonium species. Seventeen morphological descriptors were used, and NTSYS-pc software was employed to define genetic relationships, and a UPGMA-generated dendrogram reflected these relationships. Moreover, principal component analysis (PCA) was performed to determine which parameter was more effective in explaining variation. Results showed wide variation in genetic similarity rates, with the most similar genotypes being P. zonale 'c1' and a hybrid of P. zonale 'c1' x P. zonale 'c2' (90% similarity). According to the dendrogram results, it was observed that the genotypes were distributed in six clusters. In contrast, the most distant genotypes were P. zonale 'c11' and a hybrid of P. zonale 'c10' x P.zonale 'c11' (0.04% similarity). Hybrids from the female parent P. x hortorum 'c1' exhibited unique placement in the dendrogram. In the crossing combinations with this genotype, the individuals obtained in terms of flower type, flower color, flower size, bud size, early flowering, and leaf size characters showed different characteristics from the parents. Surprising outcomes in flower types, colors, and shapes contributed to gene pool enrichment, promising increased breeding variation success. The study holds practical implications for commercial breeding and serves as a valuable guide for future research endeavors.

Genetic traits and transmission of antimicrobial resistance characteristics of cephalosporin resistant Escherichia coli in tropical aquatic environments

This study investigates the genetic traits and transmission mechanisms of cephalosporin-resistant Escherichia coli in tropical aquatic environments in Singapore. From 2016 to 2020, monthly samples were collected from wastewater treatment plants, marine niches, community sewage, beaches, reservoirs, aquaculture farms, and hospitals, yielding 557 isolates that were analyzed for antimicrobial resistance genes (ARGs) and mobile genetic elements (MGEs) using genomic methods. Findings reveal significant genotypic similarities between environmental and hospital-derived strains, particularly the pandemic E. coli ST131. Environmental strains exhibited high levels of intrinsic resistance mechanisms, including mutations in porins and efflux pumps, with key ARGs such as CMY-2 and NDM-9 predominantly carried by MGEs, which facilitate horizontal gene transfer. Notably, pathogenic EPEC and EHEC strains were detected in community sewage and aquaculture farms, posing substantial public health risks. This underscores the critical role of these environments as reservoirs for multidrug-resistant pathogens and emphasizes the interconnectedness of human activities and environmental health.

Explainable multi-omics deep clustering model reveals an important role of DNA methylation in pancreatic ductal adenocarcinoma

Patients with pancreatic ductal adenocarcinoma (PDAC) have the lowest survival rate among all cancer patients in Europe. Since western societies have the highest incidence of pancreatic cancer, it has been projected that PDAC will soon become the second leading cause of cancer-related deaths. The main challenge of PDAC treatment is that patients with similar somatic genotypes exhibit a wide range of disease phenotypes. Artificial Intelligence (AI) is currently transforming the field of healthcare and represents a promising technology for integrating various datasets and optimizing evidence-based decision making. However, the interpretability of most AI models is limited and it is challenging to understand how and why a decision is made. In this study, we developed a deep clustering model for PDAC patient stratification using integrated methylation and gene expression data. We placed a specific emphasis on model explainability, with the aim to understand the hidden patterns learned by the model. The results showed two subgroups of PDAC patients with different prognoses and biological factors. The multi-omics profile analysis revealed the important role of DNA methylation. We also showed how the model was able to learn underlying patterns using both single modalities and their combinations. We hope that this study will help to promote more explainable AI in real-world clinical applications, where the knowledge of decision factors is crucial. The code of this project is publicly available in GitHub (https://github.com/albertolzs/edc_mo_pdac).

Phenotypic correlates between clock genes and phenology among populations of Diederik cuckoo, Chrysococcyx caprius.

The Diederik cuckoo, Chrysococcyx caprius, is a small Afrotropical bird in the family Cuculidae. It is taxonomically related to 13 other species within the genus Chrysococcyx and is migratory in sub-Saharan Africa. It has a unique breeding behaviour of being a brood parasite: Breeding pairs lay their eggs in the nests of a host species and hatchlings expel the eggs of the host species. The aim of the present study was to investigate diversity in two circadian clock genes, Clock and Adcyap1, to probe for a relationship between genetic polymorphisms and their role in circannual timing and habitat selection (phenology) in intra-African migrants. DNA extracted from blood was used for the PCR amplification and sequencing of clock genes in 30 Diederik cuckoos. Three alleles were detected for Clock with similar genotypes between individuals from the Northern and Southern breeding ranges while 10 alleles were detected for Adcyap1, having shorter alleles in the North and longer alleles in the South. Population genetic analyses, including allele frequency and zygosity analysis, showed distinctly higher frequencies for the most abundant Clock allele, containing 10 polyglutamine repeats, as well as a high degree of homozygosity. In contrast, all individuals were heterozygous for Adcyap1 and alleles from both regions showed distinct differences in abundance. Comparisons between both clock genes and phenology found several phenotypic correlations. This included evidence of a relationship between the shorter alleles and habitat selection as well as a relationship between longer alleles and timing. In both instances, evidence is provided that these effects may be sex-specific. Given that these genes drive some of the synchronicity between environments and the life cycles of birds, they provide valuable insight into the fitness of species facing global challenges including climate change, urbanisation and expanding agricultural practices.

Cerebral venous sinus thrombosis and SCN1A, a novel association?

Cerebral venous sinus thrombosis (CVST) is a rare cause of stroke. Acquired and inherited prothrombotic conditions are the most common risk factors for CVST. Sometimes, an etiology is not found. Wide utilization of next generation sequencing technologies in clinical practice may lead to identification of risk factors other than those classically associated with CVST. This retrospective clinical-laboratory observational study has a reference patient who presented with CVST as an adolescent. Work up for prothrombotic conditions showed high homocysteine level secondary to homozygosity for a common polymorphism, c.677C > T in the methylenetetrahydrofolate reductase (MTHFR) gene. His older unaffected brother has a similar MTHFR genotype and high homocysteine. The whole exome sequencing revealed a likely pathogenic variant in the sodium voltage gated channel, alpha subunit 1(SCN1A) gene. CVST is a multifactorial disease. Prothrombotic conditions are the most common risk factors for CVST. High homocysteine due to the common MTHFR polymorphisms was previously attributed to various thrombotic conditions including CVST. Although high homocysteine due to MTHFR polymorphism may be a contributing factor, additional risk factors such as blood flow abnormalities during SCN1A related seizures may be needed for thrombosis.

Population genomics of emerging multidrug-resistant Salmonella derby from pork and human in Guangdong, China

Salmonella is a foodborne pathogen that poses a severe public health threat. Salmonella enterica serovar Derby (S. Derby) is one of the top five serovars isolated from humans and animals, and it carries the potential risk of transmission to humans through consumption of pork and related products. This study isolated 98 S. Derby, mainly from pork, and clinical samples in Guangdong to investigate and compare their molecular characteristics, phylogenetic relationships, transmission routes, antimicrobial resistance phenotypes, genotypes, and virulence profiles. Whole-genome sequencing (WGS) revealed that all S. Derby isolates belonged to ST40 and displayed a relatively large core genome. Phylogenomic analysis indicated the possibility of clonal transmission of S. Derby not only between pork and humans but also across geographic areas in Guangdong over an extended period of time. Discriminant analysis of principal components (DAPC) model showed that a significant proportion of S. Derby isolates retrieved from multiple hosts originated from pork. Furthermore, similar antimicrobial resistance phenotypes and genotypes were found in S. Derby strains recovered from animal products and humans. All S. Derby isolates were found to contain numerous virulence genes, primarily related to fimbrial adherence determinants and secretion system components. This study offers valuable insights into the transmission routes of S. Derby between pork and humans and provides essential data for public health management.

Сучасні підходи до індикації Bacillus anthracis у навколишньому середовищі

Bacillus anthracis — the causative agent of anthrax, which can be used for bioterrorism purposes. An effective biosecurity strategy involves the improvement diagnostics tests for increase its sensitivity and specificity, and the tests for the rapid detection of pathogen. The literature review presents the results of recent methods of detecting Bacillus anthracis spores/cells in environmental objects with greatest epidemiological significance — in air and soil. Conventional microbiological methods are the gold standard for bacterial identification, but their limitation is necessity to cultivate and work with a live particularly dangerous pathogen — B. anthracis, which is associated with the risk of laboratory infection. Now, a number of new methods have been developed for the indication B. anthracis, which allow speed up the process of their detection and are much safer from the point of view of biosecurity. First of all, these are methods based on DNA amplification. Sequencing the DNA of the pathogen adds specificity to the method, and also identifies rare or new variants of B. anthracis. A rapid method for the identification of B. anthracis DNA, which takes less than an hour, has been developed. Also, immunological methods are used to determine the pathogen’s antigen. It should be noted that the specific identification of B. anthracis remains difficult due to its phenotypic and genotypic similarity to other Bacillus species. To solve this problem, a phage typing method was proposed, which has recently been improved with the help of biotechnological methods (construction of the B. anthracis phage) with the detection of its bioluminescence. A promising technology for fast, highly sensitive and specific detection and identification of B. anthracis is biosensor methods using portable devices for their implementation. Key words: anthrax, Bacillus аnthracis, environment, diagnostic tests.

Association of polymorphisms in the TNFA, TNFRSF1A and TNFRSF1B genes with lepromatous leprosy in Western Mexican patients.

Studies in different populations have shown that single-nucleotide polymorphisms (SNPs) of tumor necrosis factor-alpha (TNFα) and TNF receptors 1 and 2 (TNFR1 and TNFR2) may be involved in the pathogenesis of lepromatous leprosy (LL). To further explore the results in a Mexican population, we compared the frequencies of the polymorphisms in - 308 G>A TNFA (rs1800629), - 383 A>C TNFRS1A (rs2234649), and + 196 T >G TNFSR1B (rs1061622) genes in LL patients (n = 133) and healthy subjects (n = 198). The genotyping was performed with the polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) technique. Statistical analysis was performed using the χ2 test, within the 95% confidence interval. Odds ratios (OR) were calculated and Hardy-Weinberg equilibrium was verified for all control subjects and patients. We found an association between the TNFSR1 -383 A>C genotype and the risk of lepromatous leprosy when leprosy patients were compared to controls (OR = 1.71, CI: 1.08-2.69, p = 0.02). Furthermore, it was also associated with the risk of LL in a dominant model (AC + CC vs AA, OR: 1.65, 95% CI: 1.05-2.057, p = 0.02). Similar genotype and allele frequencies for the SNPs TNFA - 308 G>A and TNFSR2 + 196 T>G were observed between leprosy patients and healthy subjects. The TNFSR1 -383 A>C could be a potential marker for the identification of high-risk populations. However, additional studies, using larger samples of different ethnic populations, are required.