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Introduction: Single nucleotide polymorphisms (SNPs) are pivotal in clinical genetics, serving to link genotypes with disease susceptibility and response to environmental factors, including pharmacogenetics. They also play a crucial role in population genetics for mapping the human genome and localizing genes. Despite their utility, challenges arise when molecular genetic studies yield insufficient or uninformative data, particularly for socially significant diseases. This study aims to address these gaps by proposing a method to predict allelic variants of SNPs., Method: Using quantitative PCR and analyzing body composition data from 150 patients with their voluntary informed consent, we employed IBM SPSS Statistics 29.0 for data analysis. Our prototype formula, exemplified by allelic variant ADRB2 (rs1042713) = 0.257 + 0.639 * allelic variant ADRB2 (rs1042714) - 0.314 * allelic variant ADRB3 (rs4994) + 0.191 * allelic variant PPARA (rs4253778) - 0.218 * allelic variant PPARD (rs2016520) + 0.027 * body weight + 0.00001 * body weight², demonstrates the feasibility of predicting SNP allelic variants., Results: This method holds promise for diverse diseases, including those of significant social impact, due to its potential to streamline and economize molecular genetic research. Its ability to stratify disease risk in the absence of complete SNP data makes it particularly compelling for clinical and laboratory geneticists., Conclusion: However, its translation into clinical practice necessitates the establishment of a comprehensive SNP database, especially for frequently analyzed SNPs within the implementing institution., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

The diversity of aerobic anoxygenic phototrophs (AAPs) and rhodopsin-containing bacteria in the surface microlayer, water column, and epilithic biofilms of Lake Baikal was studied for the first time, employing pufM and rhodopsin genes, and compared to 16S rRNA diversity. We detected pufM -containing Alphaproteobacteria (orders Rhodobacterales, Rhizobiales, Rhodospirillales, and Sphingomonadales), Betaproteobacteria (order Burkholderiales), Gemmatimonadetes, and Planctomycetes. Rhodobacterales dominated all the studied biotopes. The diversity of rhodopsin-containing bacteria in neuston and plankton of Lake Baikal was comparable to other studied water bodies. Bacteroidetes along with Proteobacteria were the prevailing phyla, and Verrucomicrobia and Planctomycetes were also detected. The number of rhodopsin sequences unclassified to the phylum level was rather high: 29% in the water microbiomes and 22% in the epilithon. Diversity of rhodopsin-containing bacteria in epilithic biofilms was comparable with that in neuston and plankton at the phyla level. Unweighted pair group method with arithmetic mean (UPGMA) and non-metric multidimensional scaling (NMDS) analysis indicated a distinct discrepancy between epilithon and microbial communities of water (including neuston and plankton) in the 16S rRNA, pufM and rhodopsin genes.

Background: Wilson's disease (WD) is a rare inherited disorder caused by mutations in the ATP7B gene resulting in copper accumulation in different organs. However, data on ATP7B mutation spectrum in Russia and worldwide are insufficient and contradictory. The objective of the present study was estimation of the frequency of ATP7B gene mutations in the Russian population of WD patients., Materials and Methods: 75 WDpatients were examined by next-generation sequencing (NGS). A targeted panel NimbleGen SeqCap EZ Choice: 151012_HG38_CysFib_EZ_HX3 (ROCHE)was designed for analysis of ATP7B gene and possible modifier genes. Retrospective assessment of a diagnostic WD score (Leipzig, 2001) was also performed., Results: 31 mutations in ATP7B gene were detected. Two most frequent mutations were c.3207C > A (51,85% of alleles) and c.3190 G > A (8,64% of alleles). Single rare mutations were detected in 29% of cases. In 96% cases mutations of both copies of the ATP7B were revealed. We also observed 3 novel potentially pathogenic variants which were not previously described (c.1870-8A > G, c.3655A > T (p.Ile1219Phe), c.3036dupC (p.Lys1013fs). For 25% of patients at the time of the manifestation the diagnosis WD could not be established using the earlier proposed diagnostic score. There was a remarkable delay in diagnosis for the majority of patients. Only 33% of patients WD was diagnosed in three months after the first symptoms, 29%patients - in 3-12 months, 30% - in 1-10 years, in 8% - more than 10 years. Generally, clinical appearance of WD may be rather variable at manifestation and genetic profiling at this step is the only way to confirm the presence of WD., (Copyright © 2019. Published by Elsevier GmbH.)

The objective of the present study was to assess the levels of Se, as well as other essential and toxic trace elements in wheat grains and traditional Roti-bread from whole-grain flour in a seleniferous area of Punjab (India) using inductively-coupled plasma mass-spectrometry. Wheat grain and bread selenium levels originating from seleniferous areas exceeded the control values by a factor of more than 488 and 179, respectively. Se-rich wheat was also characterized by significantly increased Cu and Mn levels. Se-rich bread also contained significantly higher levels of Cr, Cu, I, Mn, and V. The level of Li and Sr was reduced in both Se-enriched wheat and bread samples. Roti bread from Se-enriched wheat was also characterized by elevated Al, Cd, and Ni, as well as reduced As and Hg content as compared to the respective control values. Se intake with Se-rich bread was estimated as more than 13,600% of RDA. Daily intake of Mn with both Se-unfortified and Se-fortified bread was 133% and 190% of RDA. Therefore, Se-rich bread from wheat cultivated on a seleniferous area of Punjab (India) may be considered as a potent source of selenium, although Se status should be monitored throughout dietary intervention.

This study describes two viral communities from the world's oldest lake, Lake Baikal. For the analysis, we chose under-ice and late spring periods of the year as the most productive for Lake Baikal. These periods show the maximum seasonal biomass of phytoplankton and bacterioplankton, which are targets for viruses, including bacteriophages. At that time, the main group of viruses were tailed bacteriophages of the order Caudovirales that belong to the families Myoviridae , Siphoviridae and Podoviridae . Annotation of functional genes revealed that during the under-ice period, the "Phages, Prophages, Transposable Elements and Plasmids" (27.4%) category represented the bulk of the virome. In the late spring period, it comprised 9.6% of the virome. We assembled contigs by two methods: Separately assembled in each virome or cross-assembled. A comparative analysis of the Baikal viromes with other aquatic environments indicated a distribution pattern by soil, marine and freshwater groups. Viromes of lakes Baikal, Michigan, Erie and Ontario form the joint World's Largest Lakes clade.

In a cohort of 69 South Vietnam children, full cariological analysis of buccal epithelial cells was performed. In order to evaluate the significance of cariological changes, all the parameters under study were divided into three groups: cytogenetic indices, apoptotic indices, and indirect indices of proliferation; integral indexes in each group were determined and the relations between them were found while assessing the effects of environment pollution on public health. The number of cells with cytogenetic alterations (micronuclei and protrusions) was increased, the process of tissue proliferation was intensified, and the apoptotic process was decelerated in children li-ing in areas polluted with Agent Orange/dioxins, which evidenced that the complex of environmental factors these superecotoxicants were part of had a harmful effect on the population. The parameters studied did not depend on age and sex of the children; the number of congenital morphogenetic variants per one child significantly correlated with the sum of cells with cytogenetic alterations.

The presence of dioxins and dioxin-containing ecotoxicants (DCE) in human environment leads to multi-level homeostasis disbalance and, eventually, dioxin pathology (DP) develops. This was demonstrated for the adult population of South Vietnam (1), who had suffered from the use of military chlorphenoxiherbicides to which dioxins had been added. The subjects of this study were children who belonged to the second generation of the inhabitants of DCE-polluted South Vietnam areas. In this sample, the frequency of malformations depending on two factors, genes GSTMI, GSTT1, CYP1A1 genotypes, and DCE exposure, were estimated. The study demonstrates that an increased level of congenital morphogenetic variants per one child is associated with the presence of DCE in the environment, as well as the fact that this parameter is influenced by genotypes of xenobiotic detoxication genes.

The paper presents the results of an integrated medical genetic survey carried out in the town of Chapayevsk. The survey included an estimation of the incidence of congenital malformations (CMF), congenital morphogenetic options (CMGO), evaluation of the frequency of chromosomal mutations of various types and micronuclei in human somatic cells. The incidence of CMF among newborn infants corresponds to that in Russia, but such forms of CMF as congenital hydrocephalus and agenesia and disgenesis of the kidney were more common in the town. The study ascertained that the average number of CMGO per child was on the increase. Cytogenetic findings unambiguously demonstrate that there was a spatial gradient within the town (from the plant to remote districts), higher rates of chromosomal aberrations. Further studies of the effects of dioxins on genetic health are required to assess the actual genetic risk due to its human contact.

Comparison of the official and research data on congenital developmental defects frequency (CDDF) in children of Novomoskovsk showed their disagreement. The average CDDF in these children is not more than the Middle European level. Physical development of children is insufficient for their biological age in 25% of cases. Many children suffer from respiratory diseases because of ambient air pollution. The majority of children (88-93%) are referred to 2-4 th health groups according to WHO classification.