Assessment of the state of population gene pools of the slightly mobile animal species on the example of the land snail Bradybaena fruticum Müll. (Gastropoda, Pulmonata) based on the DNA markers

Using the polymorphic DNA markers (RAPD and ISSR), the genetic structure was examined and the viability of 26 populations of the terrestrial gastropod Bradybaena (Fruticicola) fruticum Müll., most of which lives in the south of the Central Russian Upland, was estimated. Samples from Romania, the Urals and Vyatka regions for comparison were taken. In total, 1153 individuals were examined. The level of expected heterozygosity averaged He = 0.208 ± 0.028, the Shannon index Ish = 0.320 ± 0.039. The lowered level of variability, both actual and theoretically expected (estimated by the methods of Chao1-bc and 1st order jackknife) in groups of anthropogenically disturbed biotopes inhabiting the zones of industrial enterprises is noted. The indices of the genetic disunity of the populations were Fst = 0.298, Gst = 0.254, and the level of the gene flow Nm = 0.708. The cluster analysis and the Mantel correlation coefficient Rm = –0.024 showed the absence of a reliable relationship between the geographic and genetic distance between populations, which indicates the violation of the isolation model by distance and confirms the thesis advanced earlier that the urbanized forest-steppe landscape disrupts the natural migration processes, leads to the strong isolation and of the genetic drift in populations of snails. At the same time, the observed phenomenon of increasing the degree of subdivision of populations against the background of a decrease in the allelic diversity noted by us in many groups of bush snail can be regarded as the shift of genetic equilibrium toward increasing interpopopulation diversity (according to Wright's model). The calculation of the effective population size with the help of the Slatkin model turned out to be the lowest of the background mollusks in the study area (Ne = 0.39-0.83). However, the level of the effective population size calculated with the subdivision index (Fst and Gst) was equal to 6.2 and 7.3, respectively, which is comparable with other species of mollusks

Polymorphisms associated with resistance to infectious diseases in different breeds of pigs of the Belgorod Region of Russia

Using the PCR-RFLP method, we genotyped pigs for the genes GBP1 (mutation c. [10A>G; 11A>G]), FUT1 (mutation G307A) and MUC4(A243G) associated with resistance to infectious diseases. A total of 188 boars of four breeds (Duroc, Large White, Landrace and Yorkshire) from the Belgorod Region of Russian Federation were studied. The highest frequency of favorable genotype AG for the polymorphism GBP1E2, which is resistant to pig respiratory syndrome, was characterized by the Duroc breed (0.38). The highest frequency of Eischerichia coli F18-resistant AA genotype was observed in the Landrace population (0.19). And in terms of resistance to E. coli with fibrium type F4 (K 88), the highest frequency of favorable genotype GG is characterized by the breed Large White (0,23). In general, it can be noted that genetic resistance in the studied boars is observed predominantly only to one infectious disease

GENE POLYMORPHISM OF ENDOTHELIAL NITRIC OXIDE SYNTHASE IN PATIENTS WITH STABLE ANGINA PECTORIS AND ITS SIGNIFICANCE IN THE MANIFESTATION OF GENOPROTECTIVE PROPERTIES OF MELDONIUM

Introduction: Personalized pharmacotherapy of stable angina pectoris implies an in-depth study of the pharmacogenetic factor when prescribing the recommended drugs in order to increase the effectiveness and safety of their use. The work is devoted to the development of individual approaches to the appointment of meldonium in the complex pharmacotherapy of angina pectoris as a cardiac cytoprotector with endothelioprotective properties, depending on gene polymorphism of endothelial nitric oxide synthase. Research tasks: To study the polymorphism of the endothelial nitric oxide synthase gene eNOS C786T and to evaluate the significance of this factor in the manifestation of the genoprotective properties of meldonium in patients with stable angina pectoris. Methods: A total of 90 patients with stable angina pectoris were examined. DNA was isolated from blood leukocytes from patients. The polymorphism of endothelial nitric oxide synthase eNOS C786T was determined by polymerase chain reaction. By the method of DNA comets according to the method developed by us in in vitro tests, the effect of meldonium on the DNA of blood leukocytes of patients was evaluated. The content of cortisol, cyclic AMP and cyclic GMP in the blood serum of patients, concentration of endothelial and inducible nitric oxide synthases in erythrocytes was determined by the enzyme immunoassay. Results: The presence of gene polymorphisms of eNOS C786T alleles was found. They revealed a more severe clinical condition of patients having pathological genes by eNOS C786T alleles in the form of signs of a decrease in the activity of stress-limiting and increasing activity of stress-realizing systems at the level of humoral regulation and intracellular messengers in connection with the apparent decrease in the enzymatic activity of endothelial nitric oxide synthase. Potential genotoxicity of meldonium was revealed when it was administered to patients with a pathological genotype of endothelial nitric oxide synthase eNOS C786T (CC, CT) and a genoprotective effect when administered to patients with a normal genotype of endothelial nitric oxide synthase eNOS C786T (TT). Conclusion: When prescribing meldonium to patients with stable angina, one should take into account the genetic information on the individual polymorphism of the endothelial nitric oxide synthase gene and give preference to individuals who have the normal genotype of eNOS C786T (TT) in view of the predicted genoprotective effect of the drug. Key words: pharmacogenetics, polymorphism of the gene eNOS C786T, meldonium, genotoxicity, genoprotection, personalized pharmacotherap