Mutation Analysis of the NRLP3 Gene in Children With Cryopyrin-Associated Fever

Introduction: CAPS is a group of severe multi-system, auto-inflammatory diseases with an autosomal dominant type of inheritance associated with mutations in the cryopyrin NLRP3 gene located on the first chromosome (1q44). CAPS-syndrome is represented by three phenotypes: familial cold urticarial, Muckle – Wells syndrome, and CINCA/NOMID syndrome. Today, it is quite a lot known about CAPS-syndrome, but due to the nonspecific, chronic, remitting course of the disease, diagnosis and, consequently, treatment of the patient is hindered. The diagnosis is based on the results of molecular genetic approach. Methods: The DNAs were extracted from the whole blood of patients with suspected periodic fever (according to the manufacturer’s instructions). The presence or absence of mutations of the NLRP3 gene were determined by PCR using specific primers followed by purification of amplicons and Sanger sequencing. Results of Sanger sequencing were analyzed using Seq 6, Sequencher 2.0 software. Results: The molecular characteristic of the NLRP3 gene includes 10 exons, 32.952base pairs. As of today, according to the register and database https://infevers.umai-montpellier.fr/web/search.php, 204 mutations of the NLRP3 gene are known, but only 19 mutations are considered pathogenic. Taking into account that the majority of pathogenic mutations are located in exon 3 of the NLRP3 gene we designed primers of the 3 exon. After optimizing the primers of 3 exons, we examined 2patients by Sanger sequencing. Analysis of the electrophoregrams using the Mutation Testing resource revealed a heterozygous carrier of c. 732G>A (p.Ala 244=; rs3806268) as prediction polymorphism. The frequency of this polymorphism is high in different populations; the frequency of alleles is about 0.555. The results of genetic testing allow us to consider the detected variant as the cause of cryopyrin-related syndrome only if there is sufficient clinical and anamnestic data to confirm the diagnosis. Conclusion: Thus, this result does not exclude the presence of mutations in other exons, it is necessary to conduct next generation sequencing of WES. Designing primers were optimized and can use to confirm diagnosis in molecular genetic tools

Estimation of radiation non-regulatory stochastic risks for meadow plants of the semipalatinsk test site

An algorithm and formulas to estimate non-regulatory stochastic risks (for biota and humans) have been derived. These were used to assess radiation risks for meadow plants within the Semipalatinsk Test Site (STS). It has been shown that on small plots with relatively high radiation levels (∼ 0.25 mGy/h) the radiation risks of death of radiosensitive plants (leguminous and coniferous shrubs) have a noticeable value (> 2%). In the other STS area, radiation is not a danger to the vegetation

Regulatory radiation risks for the population and natural objects within the semipalatinsk test site

Advisability of using risks as indicators for estimating radiation impacts on environmental objects and humans has been justified. Results are presented from identification of dose burdens distribution to various cohorts of the population living within the Semipalatinsk Test Site (STS) and consuming contaminated farm products. Parameters of dose burden distributions are estimated for areas of livestock grazing and the most contaminated sectors within these areas. Dose distributions to meadow plants for the above areas have been found. Regulatory radiation risks for the STS population and meadow ecosystem components have been calculated. Based on the parameters estimated, levels of radiation exposure of the population and herbaceous plants have been compared

Radiostrontium contamination of soil and vegetation within the Semipalatinsk test site

The Semipalatinsk nuclear test site (STS) in the Republic of Kazakhstan was an important site for testing atomic bombs and other civil and military nuclear devices of the former Soviet Union. Results are presented from investigations on the extent of radiostrontium contamination in soils and vegetation at the technical areas of the STS, where the tests were conducted and in pastures used by farmers for grazing animals or for hay production. Our data are compared with those reported largely in the recent Russian language literature that has been reviewed. The extent of 90Sr contamination of soil is highly variable over the STS with the highest values associated with the technical areas, particularly the Degelen mountains. Recently measured values in both the present data and the Russian language literature confirm the relatively high current contamination of soil and vegetation in the vicinity of tunnels and associated watercourses in the Degelen area. The proportion of 90Sr in soil which could not be extracted with 6 M HCl was only an average of 20%, which is low compared to other test site areas and possibly indicates a relatively high mobility in this area, because the 90Sr is derived from leakage from explosion tunnels along watercourses rather than being associated with fused silicates. A comparison of relative activity concentrations in soil and vegetation suggests that the transfer of 90Sr to vegetation on the STS is high compared to that of 137Cs and plutonium