[Characterization of genetic polymorphisms associated with neurophysiological processes and analysis of their allele frequency distribution in the Russian population]. / Kharakteristika geneticheskikh polimorfizmov, svyazannykh s neirofiziologicheskimi protsessami, i analiz raspredeleniya chastoty ikh vstrechaemosti v rossiiskoi populyatsii.

ABSTRACT

OBJECTIVE: This paper presents an analysis of polymorphic gene loci, the products of which are directly involved in the molecular mechanisms of regulation of neurophysiological processes. MATERIAL AND METHODS: The sample of subjects consisted of 128 unrelated males and females living in the European part of Russia. The study assessed the frequency of occurrence of 11 single-nucleotide substitutions located in genes encoding serotonin receptors, ciliary neurotrophic factor, uncoupling protein 2, methylenetetrahydrofolate reductase, methionine synthase, methionine synthase reductase, dipeptidyl carboxypeptidase 1, gamma-coactivator of the receptor activated by the proliferator peroxisome and neurotrophic factor of the brain. Genotyping of the samples was carried out by PCR with fluorescence detection and analysis of the polymorphism of the lengths of restriction fragments. RESULTS: The distribution of polymorphism genotypes corresponded to the Hardy-Weinberg equilibrium with the exception of rs1801133 MTHFR (χ2=5.3088, p=0.0212) in which a decrease in heterozygosity was observed. These studies of minor allele distribution have no statistically significant deviations from the European population, but there are deviations from the Asian, African, and Latin American populations. CONCLUSION: Statistically significant correlations of allele frequencies in the study group with populations from other regions and the studies conducted in them are the basis for the inclusion of selected single-nucleotide polymorphisms in the list of a limited set of molecular genetic markers, which makes it possible to supplement the system of mental health monitoring and improve the professional training of people in extreme professions.