The subject of the study was the frequency of occurrence of polymorphic variants of the CYP1A1 and CYP1A2 genes in the indigenous (Shor) and alien (Caucasoid) population of the Kemerovo region. The objective was to study the frequency of occurrence of polymorphic variants of the CYP1A1 (rs4646903) and CYP1A2 (rs762551) genes in the indigenous (Shor) and alien (Caucasoid) population of the Kemerovo region to identify the specifics in their distribution among different ethnic groups. Methods. For genetic studies, venous blood was taken from the indigenous (245 Shors) and alien (48 Russians) population of Gornaya Shoria and in the population of Novokuznetsk (471 individuals). DNA samples were isolated by phenol-chloroform extraction. The polymorphism of the CYP1A1 and CYP1A2 genes was studied by real-time PCR. Main results. Statistically significant differences in the distribution of polymorphic variants of the CYP1A1 and CYP1A2 genes in the indigenous and alien Caucasoid population of the South of Kuzbass were revealed. It was shown that the relatively rare genotype GG of the CYP1A1 gene was found in Shors 3.5 times more often than in Caucasoids, and the frequency of occurrence of the relatively rare genotype CC of the CYP1A2 gene was also 1.5 times higher in Shors in comparison with the Caucasoid population of Gornaya Shoria. The frequency of the mutant allele G of the CYP1A1 gene and the «wild» allele C of the CYP1A2 gene in Shors also exceeded the similar frequencies in Caucasoids by 3.48 and 1.09 times, respectively. Conclusion. The obtained data can be used in planning and conducting genetic and epidemiological investigations, studying the associations of these markers with multifactorial diseases and calculating the possible individual and population risk, as well as for developing preventive measures to preserve the health of the population, taking into account the ethno-genetic specifics of the region.

Introduction. According to epidemiological observations, the level of congenital malformations in children is associated with the degree of chemical pollution of the environment and certain forms of genes of the I and II phases of the xenobiotic biotransformation system. The study aimed to determine and compare the index of anthropogenic load with the probability of occurrence of congenital malformations of the fetus in combination with gene polymorphisms of I and II phases of the xenobiotic biotransformation system in women living in different administrative territories in the South of Kuzbass. Material and methods. The level of air pollution in the cities of the South of the Kemerovo region (Kuzbass) was established. Prenatal screening of 1,426 pregnant women at the term of 15-18 weeks in the cities of the South of Kuzbass was carried out. The Real Time-PCR method was used to determine the gene polymorphism of the xenobiotic biotransformation system (CYP1A2, GSTM1) in 53 women of Novokuznetsk who gave birth to newborns with congenital malformations. Results. In the cities of the South of Kuzbass, with a critical and high degree of pollution of atmospheric air and waterways, many women are at risk of congenital malformations in offsprings. The A/A CYP1A2*1F genotype in combination with the deletion polymorphism of the GSTM1 gene in the mother is reliably associated with the occurrence of congenital malformations in offsprings (χ 2 — 4.72; р — 0.030; OR — 5.56; CI — 1.05–29.32), and the C/ACYP1A2*1F genotype in combination with the normal functioning GSTM1 “+” gene is associated with resistance to the development of congenital malformations (χ 2 — 12.53; p — <0.001; OR — 0.11; CI — 0.03–0.4 ).  Conclusion. Against the background of an increasingly unfavourable ecological situation in Kuzbass and raising the number of newborns with congenital malformations, it is essential to include in the algorithm for early prenatal diagnosis the determination of the forms of genes of different phases of the xenobiotic metabolism system to elaborate an algorithm for reducing the xenobiotic load on the body of pregnant women during critical periods of fetal organogenesis. Contribution: Gulyaeva O.N. —  the concept and design of the study, collection and processing of material, statistical processing, writing a text, editing; Zhukova A.G. —  editing; Kazitskaya A.S. —  collection and processing of material; Luzina F.A. —  collection and processing of material; Alekseeva M.V.  —  collection and processing of material; Renge L.V. —  the concept and design of the study; Ryabov V.A. —  the concept and design of the study, collection and processing of material, statistical processing, writing a text. All authors are responsible for the integrity of all parts of the manuscript and approval of the manuscript final version. Conflict of interest .  The authors declare no conflict of interest. Acknowledgement. The study had no sponsorship.

The paper deals with the study of glutathione-S-transferase M1 and T1 gene polymorphism in indigenous Shor and alien Caucasoid population of Gornaya Shoria of the Kemerovo region in order to identify ethnic specificity in their distribution. Materials and methods. The material was collected in field conditions in 2010-2016 in Gornaya Shoria of the Kemerovo region. Blood sampling was carried out with the filling of «Informed consent» in 345 people. DNA samples were isolated by phenol-chloroform extraction. Polymorphism of GSTM1 and GSTT1 genes was studied by real-time PCR using the reagent kits of SibDNA LLC. Statistical processing of the materials was standard software package SPSS 21.0. Main results. Ethnic features of the distribution of polymorphic variants of GSTM1 and GSTT1 genes in the indigenous Shor and alien Caucasoid population of the south of Kuzbass were revealed. The frequency of deletion polymorphism of GSTM1 and GSTT1 genes were statistically significantly lower among the Shors compared with the alien population of the region (the Shors: GSTM1 0/0 – 0.2318, GSTT1 0/0 – 0.2568, Caucasoid population: GSTM1 0/0 – 0.4464, GSTT1 0/0 – 0.4107). The simultaneous combination of «null» genotypes by two loci in the Shors was 3-4 times less common than in a population of European descent. Conclusion. The results of the study on the frequency of occurrence of allelic variants of GSTM1 and GSTT1 genes in Gornaya Shoria population and the revealed ethnic specificity in their distribution can serve as a population control when studying the associations of these markers with multi-factor diseases in the indigenous and alien population of the region.

The paper deals with the study of glutathione-S-transferase M1 and T1 gene polymorphism in indigenous Shor and alien Caucasoid population of Gornaya Shoria of the Kemerovo region in order to identify ethnic specificity in their distribution. Materials and methods. The material was collected in field conditions in 2010-2016 in Gornaya Shoria of the Kemerovo region. Blood sampling was carried out with the filling of «Informed consent» in 345 people. DNA samples were isolated by phenol-chloroform extraction. Polymorphism of GSTM1 and GSTT1 genes was studied by real-time PCR using the reagent kits of SibDNA LLC. Statistical processing of the materials was standard software package SPSS 21.0. Main results. Ethnic features of the distribution of polymorphic variants of GSTM1 and GSTT1 genes in the indigenous Shor and alien Caucasoid population of the south of Kuzbass were revealed. The frequency of deletion polymorphism of GSTM1 and GSTT1 genes were statistically significantly lower among the Shors compared with the alien population of the region (the Shors: GSTM1 0/0 – 0.2318, GSTT1 0/0 – 0.2568, Caucasoid population: GSTM1 0/0 – 0.4464, GSTT1 0/0 – 0.4107). The simultaneous combination of «null» genotypes by two loci in the Shors was 3-4 times less common than in a population of European descent. Conclusion. The results of the study on the frequency of occurrence of allelic variants of GSTM1 and GSTT1 genes in Gornaya Shoria population and the revealed ethnic specificity in their distribution can serve as a population control when studying the associations of these markers with multi-factor diseases in the indigenous and alien population of the region.

Subject of study. The number and age and sex structure of the indigenous Shor population of the Kemerovo Region. Objective – analysis of the dynamics of the number and sex and age composition of the Kuzbass Shors (medical and social aspect). Materials and methods. The analysis of the characteristics of the demographic structure of the Shors was carried out on the basis of the materials of the National Population Census of 1970-2010, data from Rosstat, Kemerovostat, and books on the household accounting of the rural population of Gornaya Shoria. Statistical material processing is the standard software package SPSS 21.0. Results. The Shors are one of the most urbanized ethnic groups (2010 – 76.3 %) among the indigenous minorities of the Russian Federation, which affects the reproduction of the indigenous population (the average number of children born in the Shors in 2010 was 1,740 children per 1,000 women). The negative dynamics of demographic processes was revealed: the Shor population decreased by 24.1 % from 1970 to 2010 and amounted to 10,672 people. The disproportion in the sex ratio increased, the proportion of the pre-reproductive and reproductive population decreased. The age structure was a regressive type, the specific gravity of persons 60 years and older exceeded the proportion of children. The aging of the population has led to an increase in the median age (the Shors – 33.1 years, the Kemerovo Region – 37.3 years). The aging process of the Shor ethnic group is slower than the entire population of the region. Conclusion. The transformation of the age structure of the Shors occurs in line with the all-Russian tendencies, but is somewhat delayed in time. The identified trends in the demographic structure of the Shors allow us to predict the transformation of the need for types and volumes of medical care, as well as to develop medical and social measures aimed at ensuring sustainable demographic development and improving the health of the population, taking into account the national characteristics of the region.

Subject of study. The number and age and sex structure of the indigenous Shor population of the Kemerovo Region. Objective – analysis of the dynamics of the number and sex and age composition of the Kuzbass Shors (medical and social aspect). Materials and methods. The analysis of the characteristics of the demographic structure of the Shors was carried out on the basis of the materials of the National Population Census of 1970-2010, data from Rosstat, Kemerovostat, and books on the household accounting of the rural population of Gornaya Shoria. Statistical material processing is the standard software package SPSS 21.0. Results. The Shors are one of the most urbanized ethnic groups (2010 – 76.3 %) among the indigenous minorities of the Russian Federation, which affects the reproduction of the indigenous population (the average number of children born in the Shors in 2010 was 1,740 children per 1,000 women). The negative dynamics of demographic processes was revealed: the Shor population decreased by 24.1 % from 1970 to 2010 and amounted to 10,672 people. The disproportion in the sex ratio increased, the proportion of the pre-reproductive and reproductive population decreased. The age structure was a regressive type, the specific gravity of persons 60 years and older exceeded the proportion of children. The aging of the population has led to an increase in the median age (the Shors – 33.1 years, the Kemerovo Region – 37.3 years). The aging process of the Shor ethnic group is slower than the entire population of the region. Conclusion. The transformation of the age structure of the Shors occurs in line with the all-Russian tendencies, but is somewhat delayed in time. The identified trends in the demographic structure of the Shors allow us to predict the transformation of the need for types and volumes of medical care, as well as to develop medical and social measures aimed at ensuring sustainable demographic development and improving the health of the population, taking into account the national characteristics of the region.

The objective was to study the dynamics of the population number and the reproduction of the indigenous Shorian population of the Kemerovo Region. Materials and methods. The paper used the materials of the population censuses in 2002, 2010, 2015, records of books of household accounting of the rural population in Gornaya Shoria, pedigrees-questionnaires. The total coefficients of birth rate and natural movement of the population were calculated. Statistical processing of the materials was carried out in the standard software package SPSS 21.0. Main results. The negative dynamics of the demographic processes associated with the reproduction of the indigenous Shorian population was revealed: the rate of decline in population number accelerated, the average number of children born as a whole decreased (2002 – 2,590; 2010 – 1,740; 2015 – 1,456 children per 1000 women) and in different age groups of women which testified to the narrowed mode of demographic reproduction of the Shorian ethnic group. Conclusion. The demographic processes of the indigenous Shorian population take place within the framework of the all-Russian and global trends and are associated with the demographic transition from the traditional type to the modern one of the population reproduction. In the Shorians of the Kemerovo Region this process is slower.

The objective was to study the dynamics of the population number and the reproduction of the indigenous Shorian population of the Kemerovo Region. Materials and methods. The paper used the materials of the population censuses in 2002, 2010, 2015, records of books of household accounting of the rural population in Gornaya Shoria, pedigrees-questionnaires. The total coefficients of birth rate and natural movement of the population were calculated. Statistical processing of the materials was carried out in the standard software package SPSS 21.0. Main results. The negative dynamics of the demographic processes associated with the reproduction of the indigenous Shorian population was revealed: the rate of decline in population number accelerated, the average number of children born as a whole decreased (2002 – 2,590; 2010 – 1,740; 2015 – 1,456 children per 1000 women) and in different age groups of women which testified to the narrowed mode of demographic reproduction of the Shorian ethnic group. Conclusion. The demographic processes of the indigenous Shorian population take place within the framework of the all-Russian and global trends and are associated with the demographic transition from the traditional type to the modern one of the population reproduction. In the Shorians of the Kemerovo Region this process is slower.

Subject. 433 workers of coal mines of the South of Kuzbass (drifters, stope miners, operators of rock removing machines) were examined at the age of 40 to 54 with a previously established diagnosis of chronic mechanic bronchitis. Objective. To develop a system for predicting the probability of developing respiratory failure in the patients with chronic mechanic bronchitis based on the clinic-functional and genetic researches. Methods. Clinical studies were carried out, the function of external respiration was studied; the body mass index, constitutional-morphological types (CMT) according to Rhys-Eysenck and Tanner, blood groups of AB0, Rhesus, MN systems, the level of C-reactive protein were determined. Main results. During examination the signs of respiratory failure were revealed in 344 patients (79.4 %). Considering the high percentage of this complication, using the Bayes method we elaborated the system to predict the probability of developing respiratory failure in the patients with chronic mechanic bronchitis. The most significant markers of the risk of developing respiratory failure were revealed: the duration of the course of chronic bronchitis is 5 years and more, the presence of tobacco smoking, the body mass index is 30 and more, the hypersthenic CMT according to Rhys-Eysenck, andromorphic CMT according to Tanner, A(II), AB(IV), Rh-, NN blood groups, the increase in the level of C-reactive protein. Scope of application. The system for predicting the probability of developing respiratory failure can be used during periodic medical examinations and in the rehabilitation of the patients with chronic mechanic bronchitis. Conclusions. The system for predicting the probability of developing respiratory failure in the patients with chronic mechanic bronchitis has been elaborated, which makes it possible to raise the accuracy of predicting the respiratory failure by increasing the number of the factors analyzed using highly sensitive markers.

Subject. Polymorphism of the genes of xenobiotics biotransformation GSTM1, GSTT1 (probable markers of cancer risk) in the Shorians and Europeoid population of the Kemerovo Region; mortality rates from malignant neoplasms (MNP) in the Shorians and the entire population in Novokuznetsk for the period from 1970 to 1999. Objective. To study the peculiarities of the distribution of the gene polymorphism of xenobiotics biotransformation (GSTM1, GSTT1) in the indigenous and alien population of the Kemerovo Region. To analyze ethno-genetic aspects of mortality rate from malignant neoplasms (on the example of Novokuznetsk). Materials and methods. The adult indigenous and alien population of Gornaya Shoria and Novokuznetsk of the Kemerovo Region was examined. DNA samples were selected from the venous blood by the phenol-chloroform extraction method. The deletion polymorphism of the GSTM1 and GSTT1 genes was studied by PCR method in real-time using LLC «SibDNA» reagent kit. We used data on mortality rates from MNP among the Shorians obtained from the archives of the recording of the acts of civil status in Novokuznetsk. Main results. The indigenous Shorians are dominated by the frequencies of the non-mutant variants of the genes of xenobiotics biotransformation: GSTM1 (+) is 0.768, GSTT1 (+) is 0.743; the frequency of «null» functionally weakened genotypes and their combinations compared with the Europeoid population is reduced. In the structure of the classes of death causes in the Shorians in the 90th years neoplasms are at the fourth ranked place (6.3 %), for the entire population of Novokuznetsk they are at the third one (11.7 %). Conclusions. The reduced frequency of the deletion variants of the genes of xenobiotics biotransformation (GSTM1, GSTT1) in the Shorians allows predicting the risk of disease incidence and mortality rates from oncologic pathology at the population level. Under the same ecological conditions of the urban environment mortality rates from MNP among the Shorians occupy a lower rank in the structure of the main classes of death causes in the comparison with the population of Novokuznetsk.

Subject. Polymorphism of the genes of xenobiotics biotransformation GSTM1, GSTT1 (probable markers of cancer risk) in the Shorians and Europeoid population of the Kemerovo Region; mortality rates from malignant neoplasms (MNP) in the Shorians and the entire population in Novokuznetsk for the period from 1970 to 1999. Objective. To study the peculiarities of the distribution of the gene polymorphism of xenobiotics biotransformation (GSTM1, GSTT1) in the indigenous and alien population of the Kemerovo Region. To analyze ethno-genetic aspects of mortality rate from malignant neoplasms (on the example of Novokuznetsk). Materials and methods. The adult indigenous and alien population of Gornaya Shoria and Novokuznetsk of the Kemerovo Region was examined. DNA samples were selected from the venous blood by the phenol-chloroform extraction method. The deletion polymorphism of the GSTM1 and GSTT1 genes was studied by PCR method in real-time using LLC «SibDNA» reagent kit. We used data on mortality rates from MNP among the Shorians obtained from the archives of the recording of the acts of civil status in Novokuznetsk. Main results. The indigenous Shorians are dominated by the frequencies of the non-mutant variants of the genes of xenobiotics biotransformation: GSTM1 (+) is 0.768, GSTT1 (+) is 0.743; the frequency of «null» functionally weakened genotypes and their combinations compared with the Europeoid population is reduced. In the structure of the classes of death causes in the Shorians in the 90th years neoplasms are at the fourth ranked place (6.3 %), for the entire population of Novokuznetsk they are at the third one (11.7 %). Conclusions. The reduced frequency of the deletion variants of the genes of xenobiotics biotransformation (GSTM1, GSTT1) in the Shorians allows predicting the risk of disease incidence and mortality rates from oncologic pathology at the population level. Under the same ecological conditions of the urban environment mortality rates from MNP among the Shorians occupy a lower rank in the structure of the main classes of death causes in the comparison with the population of Novokuznetsk.

The demographic structure and its dynamics (number, age-gender structure, birth rate, mortality, duration and change of generations) of native population of the Kemerovo area (teleuts) are investigated. The number of teleuts is about 2,500 in the area. Teleuts' ethnos is characterized by a high disproportion in the gender ratio, negative tendencies in birth and mortality rates. The age structure is close to a regressive type, the birth rate is lower than the limits of simple generation change that occurs in 24,7 years.