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We conducted the first genetic analysis of a wide a range of rural Russian populations in European Russia with a panel of common DNA markers commonly used in criminalistics genetic identification. We examined a total of 647 samples from indigenous ethnic Russian populations in Arkhangelsk, Belgorod, Voronezh, Kursk, Rostov, Ryazan, and Orel regions. We employed a multiplex genotyping kit, COrDIS Plus, to genotype Short Tandem Repeat (STR) loci, which included the genetic marker panel officially recommended for DNA identification in the Russian Federation, the United States, and the European Union. In the course of our study, we created a database of allelic frequencies, examined the distribution of alleles and genotypes in seven rural Russian populations, and defined the genetic relationships between these populations. We found that, although multidimensional analysis indicated a difference between the Northern gene pool and the rest of the Russian European populations, a pairwise comparison using 19 STR markers among all populations did not reveal significant differences. This is in concordance with previous studies, which examined up to 12 STR markers of urban Russian populations. Therefore, the database of allelic frequencies created in this study can be applied for forensic examinations and DNA identification among the ethnic Russian population over European Russia. We also noted a decrease in the levels of heterozygosity in the northern Russian population compared to ethnic populations in southern and central Russia, which is consistent with trends identified previously using classical gene markers and analysis of mitochondrial DNA.

Yu. P. Altukhov suggested that heterozygosity is an indicator of the state of the gene pool. The idea and a linked concept of genetic ecological monitoring were applied to a new dataset on mtDNA variation in East European ethnic groups. Haplotype diversity (an analog of the average heterozygosity) was shown to gradually decrease northwards. Since a similar trend is known for population density, interlinked changes were assumed for a set of parameters, which were ordered to form a causative chain: latitude increases, land productivity decreases, population density decreases, effective population size decreases, isolation of subpopulations increases, genetic drift increases, and mtDNA haplotype diversity decreases. An increase in genetic drift increases the random inbreeding rate and, consequently, the genetic load. This was confirmed by a significant correlation observed between the incidence of autosomal recessive hereditary diseases and mtDNA haplotype diversity. Based on the findings, mtDNA was assumed to provide an informative genetic system for genetic ecological monitoring; e.g., analyzing the ecology-driven changes in the gene pool.

Data on the frequencies of all (50 412) surnames in a total population of 849 399 people have been treated by various methods of multivariate statistics (cluster analysis, multidimensional scaling, and factor analysis) to show that 22 district populations of the Central Chernozem region of Russia form a definite, ordered system of population groups. All raions (administrative districts) of Belgorod oblast (administrative region) have been grouped into four clusters corresponding to the actual geographic locations of the populations. Districts of the eastern cluster are characterized by very specific spectrum and frequencies of surnames; districts of the western cluster differ in a high proportion of Ukrainian surnames.

The model of the Belgorod oblast population has been used to demonstrate different effects of administrative reforms on microevolution in human populations. For the populations that formerly belonged to Kursk oblast, changes in the regional administrative structure (after which some of them remained in Kursk oblast and others were included into Belgorod oblast) have lead to an increase in the genetic distances between them. However, other populations (formerly belonging to Voronezh oblast) have become genetically closer to one another, although these populations now belong to different administrative regions (Belgorod and Voronezh oblasts).

Changes in the endogamy indices of district populations of the Central Chernozem region of Russia during the past 100 years were studied. The size of an elementary population in this region increased from that of a rural municipality in the mid-20th century to that of an administrative district in the late 20th century.

The frequencies of 33 alleles of 12 loci of immunological and biochemical gene markers (ABO, RH, HP, GC, TF, PI, C'3, ACP1, GLO1, PGM1, ESD, and 6-PGD) have been estimated in the indigenous Russian and Ukrainian populations of Belgorod oblast. Differences of the Belgorod population from other populations of Russia with respect to the genetic structure have been determined. It has been found that the frequency distributions of all alleles studied in the Belgorod population are similar to those typical of the genetic structure of Caucasoid populations.

The characteristics of the gene pools of indigenous populations of Ukraine and Belarus have been studied using 28 alleles of 10 loci of biochemical gene markers (HP, GC, TF, PI, C'3, ACP1, GLO1, PGM1, ESD, and 6-PGD). The gene pools of the Russian and Ukrainian indigenous populations of Belgorod oblast (Russia) and the indigenous populations of Ukraine and Belarus have been compared. Cluster analysis, multidimensional scaling, and factor analysis of the obtained data have been used to determine the position of the Belgorod population gene pool in the Eastern Slavic gene pool system.

The frequencies and spectra of surnames have been analyzed in groups of raions (districts) of the Belgorod oblast (region) with different degrees of population subdivision. The "family name portraits" of districts with low (0.00003 less sign f* < 0.00022, f*(r) = 0.00015) and moderate (0.00023 < f*(r) < 0.00042, f*(r) = 0.00029) inbreeding levels are similar both to each other and to the "family name portrait" of the Belgorod oblast as a whole. Districts with high subdivision levels (0.00043 < f*(r) < 0.00125, f*(r) = 0.00072) had very distinctive surname spectra and the highest surname frequencies. Intense immigration to the Belgorod oblast significantly affects its population genetic structure, decreasing the population subdivision.

The gene pool of the entire population of all the 21 raions (districts) of the Belgorod oblast (region) has been studied using anthroponymic data. Considerable geographic variations of the number of surnames and the degree of population subdivision (0.00003 < f(r)* < 0.00125) in the 21 districts have been demonstrated. Districts with low population subdivision levels are mainly located in the central and southwestern raions of the Belgorod oblast, contain an urbanized area (city), and border on Ukraine (they are characterized by a considerable Ukrainian immigration). Urbanization significantly affects the population structure of the Belgorod oblast. In urbanized districts, rural populations lack the relationships between the population size, number of surnames, and population subdivision level (f(r)).

Based on the characteristics of body height and weight in 4905 newborns, the population-genetic structure of the rural raions (districts) of Kursk oblast (region) and in the city of Kursk was determined. An "adaptive norm area" with respect to body weight and height was distinguished for newborns in Kursk oblast. On the average, the anthropometric parameters of 20% of infants from the studied populations fell within this area. The height and growth of newborns exhibited a pronounced geographic variation and depended on the level of urbanization, as well as the sex and the health status of the newborns. In district populations, the body height and the variances of the body height and weight increased with an increase in endogamy. Therefore, the relative numbers of newborns with large values of both weight and height, as well as those with a medium body height and a small body weight, were increased. Conversely, the relative numbers of newborns with a low weight and height and with a disturbed weight-height correlation were decreased.

The distributions of AB0 and Rhesus phenotypes and the corresponding genes in the population of Kursk oblast were studied. Based on these data, genetic differentiation of rural populations with respect to the d gene frequency was revealed. The differentiation was determined by the differences in the genetic and demographic structure of these rural populations. The frequency of homozygotes for the recessive gene d and the incidence of malformations affecting the children's viability increased with an increase in the inbreeding level of a population. Genetic distances between the population of Kursk oblast and other populations were estimated.

A significant effect of the population structure on the incidence of multifactorial diseases affecting the viability of the adult population was found in rural districts of Kursk oblast. The diseases studied were chronic bronchitis, pulmonary emphysema, pneumosclerosis, and atherosclerosis. The incidence of multifactorial pathology increased with an increase in the homozygosity level of district populations. On average, the population structure affected the incidence of multifactorial diseases by 30-50%.

The coefficient of inbreeding and its components were calculated for populations of rural districts of Kursk oblast with the use of the isonymic method. The following values were obtained: F(it) = 0.000567, Fst = 0.000650, and Fis = 0.000083. The Fst value agreed with the value of Malecot's local inbreeding coefficient (0.000201). In the districts where the proportions of families with frequent family names (FFNs; a frequency of 0.001 and more) were 50% and over, these family names were sufficient to adequately describe the population structure. The migration index and the index of family-name diversity were calculated. Significant correlations were revealed between Fst, the migration index, the index of family-name diversity, Malecot's local inbreeding, the mean square distance between birthplaces of spouses, the effective migration pressure, and the coefficient of linear systematic pressure.

Investigation of the the genetics, demography, and epidemiology of congenital malformations (CMs) in Kursk oblast revealed statistically significant correlations between population parameters and the incidence of CM in the rural rations of the oblast. The general prevalence of CM and that of the separate CM forms ("guard" CM, multiple CM, hemangioma, congenital heart disease, congenital myelocele, talipes valgus, congenital femoral luxation, polydactyly, cryptorchism) increased with an increase in the average marital age of men and women of the reproductive part of the population and with an increase in the level of the populations homozygosity (an increase in the local consanguinity and ethnic marriage assortativeness, a decrease in the populations's migration activity, an increase in the proportion of genotypes homozygous for recessive genes, etc).

Total selection indices and their components in the Kursk Oblast, calculated from Crow's equations, are: Itot = = 0.403, I(f) = 0.345, Im = 0.043. The selection intensity was higher in rural than in urban populations. The levels of total selection and differential fertility in rural populations depended on the genetic and demographic structure of these populations. An increase of homozygosity in the rural populations (decreases in the mean square distance between spouses' birthplaces and in the frequency of long-range migrations, increase in ethnic assortativeness, etc.) increased the selection intensity.

Strong associations between demographic parameters characterizing age, ethnic composition, and migrational processes in the population have been revealed by means of multivariate methods (correlation and cluster analyses; the method of principal components). Formation of the demographic structure of a population has been shown to be related to these associations, their directions and strength. In the long term, these associations determine features of subdivision (territorial, hierarchic, etc.) of the demographic structure of a particular population.

When studying the marriage structure of the Kurskaya oblast population in 1987-1990, a positive marriage assortativeness with respect to ethnicity was found (K = 0.244). The Russian population exhibited panmixia; in the Ukrainian population, negative marriage assortativeness and panmixia prevailed; other ethnic groups were characterized by more or less pronounced positive marriage assortativeness. The ethnic compositions of raion (district) populations were determined by their geographic location and history. The parameter of marriage assortativeness with respect to age was r = 0.911; this value in the reproductive part of the population was r = 0.748. The age of contracting marriage in the raion populations depended on the extent of their urbanization.

The population of the Kurskaya oblast (administrative region) was described using the Malecot's model of isolation by distance. Differences in inbreeding level between populations of raions (districts) were found; the differences were determined by degrees of urbanization, age, and effective size of the populations. In the center of the oblast, an area was found with the minimum mean square distance between birthplaces of spouses, low effective migration pressure, and high isolation by distance. In populations of raions, a relationship was found between population inbreeding level and incidences of congenital malformations (CM) and multiple congenital malformations (MCM), which affected the viability of infants.

Analysis of marital structure revealed that 82% of men and 77% of women that contracted marriages in the Kurskaya oblast (administrative region) in 1987-1990 were born in this region. The average coefficient of demographic migration in the Kurskaya oblast was m = 0.345. The majority of migrants to the Kurskaya oblast were from neighboring areas: Central and Central Chernozem Zones of Russia, Ukraine, and Moldova. Marriage assortativeness with respect to the birthplaces of the spouses was K = 0.090. Migration activity increased with urbanization of the population. Migration structure of local populations was determined by mode, level, and direction of interaction between the processes underlying it.

Age characteristics, national composition, migration processes, and the level of inbreeding among Kursk citizens were analyzed on the basis of a sampling study of marriages registered in Kursk in 1960 and 1989. Assortative marriages in reference to age were r = 0.910 in 1960 and r = 0.904 in 1989. The polychoric relationship index characterizing national correlation of married pairs was K = 0.440 in 1960 and K = 0.405 in 1989. Positive assortive mating in reference to the birthplace of the married pairs was revealed: K = 0.190 in 1960; K = 0.161 in 1989. The coefficient of local population relationship (a) was 0.000026 in 1960 and 0.000011 in 1989.