[Namesakes or relatives? Approaches to investigating the relationship between Y chromosomal haplogroups and surnames].

Population genetics successfully applies surnames as quasi-genetic markers when estimating similarity between populations and calculating a measure of random inbreeding. These calculations are based on an isonomy coefficient which assumes that every surname is monophyletic: that it originated from single common ancestor and all namesakes are therefore relatives. On the other hand, there is a general opinion that a typical Russian surname is polyphyletic: it originated multiple times and most namesakes are therefore not related to each other. Combined studies of Y chromosomes and surnames now allow us to address this issue. In this study, we discuss approaches for statistical evaluation of Y chromosomal haplogroup frequencies in groups of people bearing the same surname (namesakes). We propose an 'Index of Accumulated Haplogroup Frequency', which allows for errors due to random (artifactual) effects increasing a haplogroup frequency in a group of namesakes by subtracting the population frequency of this haplogroup. This population frequency is calculated as the weighted average of the frequencies of this haplogroup in the populations that the carriers of this surname come from. Fom the total sample (comprising 1244 persons from 13 populations of the historical Russian area) we chose 123 persons carrying 14 surnames which were the most frequent in the total sample. Haplogroup frequencies in these 14 "surname" groups were compared with the respective 14 "population" control groups compiled from the total sample as described above. We found that even these widespread surnames exhibit non-random accumulation of specific Y chromosomal haplogroups. More detailed analyses of the relationships between namesakes could be carried out using Y-STR haplotypes rather than Y-SNP haplogroups, and will be the subject of a future study.

[Genetic ecological monitoring in human populations: heterozygosity, mtDNA haplotype variation, and genetic load].

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.

[The Russian gene pool: gene geography of Alu-insertions (ACE, APOA1, B65, PV92 TPA25)].

The analysis of five Alu insertion loci (ACE, AP4OA1, B65, PV92, TPA25) has been carried out for the first time in 10 Russian populations (1088 individuals), covered all parts of historical area of the Russian ethnos. Depending on locus, Russian populations exhibit similarity with their western (European populations) or with the eastern (populations of the Ural region) neighbors. Considering frequencies of the studied Alu-insertions, Russian gene pool exhibits low variation: average difference between populations is d = 0.007, whereas on classical markers, mtDNA and Y chromosome heterogeneity of Russian gene pool is essentially higher (0.013, 0.033 and 0.142 respectively). Therefore, this set of five Alu insertions has lower variability on the intra-ethnic level. However in inter-ethnic comparisons the clear pattern was obtained: 13 Eastern European ethnic groups formed three clusters, according with their historical and geographical position--East Slavic, Caucasian and South Ural clusters. The obtained data confirms efficiency of using Alu insertions for studying genetic differentiation and history of a gene pool of the Eastern European populations.

[The gene pool of the Belgorod oblast population: changes in population genetic relationships during the past 50 years].

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).

[The gene pool of the Belgorod region population: description of the "genetic landscape" of 22 district populations].

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 gene pool of the Belgorod oblast population: Malecot's isolation-by-distance parameters].

The mean distance between birthplaces of spouses (sigma, sigma'), the proportion of medium migrations (k), and the effective migration pressure (M(e)) have considerably increased, and the linear systematic pressure coefficient (b) has decreased in the human population of the Central Chernozem region during the past 50 years. However, the local inbreeding level (a), which is determined by both an increase in the migration intensity and a decrease in the effective population size (N(e)), has remained practically unchanged. A change in the regional administrative structure has affected the genetic structure of populations. In the 1950s, raions (administrative districts) of Kursk and Voronezh oblasts (regions) were similar with respect differentiation parameters, whereas the oblasts considerably differed from each other. At present, some Malecot's isolation-by-distance parameters for the populations of the districts that were included to Belgorod oblast in 1954 are lower and similar to those for the districts that remain in Kursk and Voronezh oblasts.

[The gene pool of the Belgorod oblast population: changes in the endogamy indices of district populations with time].

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 gene pool of Belgorod oblast population: the distribution of immunological and biochemical gene markers].

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 gene pool of Belgorod oblast population: study of biochemical gene markers in populations of Ukraine and Belarus and the position of the Belgorod population in the Eastern Slavic gene pool system].

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 gene pool of the Belgorod oblast population: II. "Family name portraits" in groups of districts with different degrees of subdivision and the role of migrations in their formation].

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 Belgorod region population: I. Differentiation of all district populations based on anthroponymic data].

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)).

[Analysis of polymorphism at nine nuclear genome DNA loci in maris].

Population genetic survey of the indigenous populations of the Marii El Republic, represented by the two major ethnographic groups of Maris, Meadow (five samples from Morkinsk, Orshansk, Semursk, Sovetsk, and Zvenigovsk districts) and Mountain (one sample from Gornomariisk district) Maris, was carried out. All Mari groups were examined at nine polymorphic DNA loci of nuclear genome, VNTR(PAH) (N = 422), STR(PAH) (N = 152), VNTR(ApoB) (N= 294), VNTR(DAT1) (N = 363), VNTR(eNOS) (N = 373), ACE (N = 412), IVS6aGATT (N = 513), D7S23(KM.19) (N = 494), and D7S8 (N = 366). Allele and genotype frequency distribution patterns were obtained for individual samples and ethnographic groups, as well as for the ethnic group overall. In each of six Mari samples examined, the deficit of heterozygotes was observed, i.e., the mean observed heterozygosity was lower than the expected one. The indices of mean heterozygosity, Hs = 0.455, and interpopulation differentiation, FST = 0.0024, for the Mari gene pool were obtained using a set of DNA markers analyzed. Analysis of the genetic distances and between population differentiation (FST) showed that the main part of genetic diversity in Maris was determined by the differentiation between the populations of Meadow Maris. The contribution of the differences between the ethnographic groups of Mountain and Meadow Maris to the ethnic gene pool was small. It is suggested that the main role in the formation of the Mari gene pool is played by the geographic factor.

[Population-genetic structure of Chuvashia (from data on eight DNA loci in the nuclear genome)]. / Populiatsionno-geneticheskaia struktura chuvashei (po dannym o vos'mi DNK-lokusakh iadernogo genoma).

Population-genetic study of indigenous populations representing three ethnic Chuvash group: highland (Cheboksarsk and Morgaush district), lowland (Kanash district) and mid-lowland (Marposad district). Eight polymorphic DNA loci of the nuclear genome (VNTR/PAH, STR/PAH, VNTR/ApoB, VNTR/DAT1, APF, VNTR/eNOS, IVS6aGATT, and KM.19/PstI) were examined in the population of each district. For each of the four population, we estimated the allele and genotype frequency distributions at each polymorphic system, heterozygosities HS and between-population differences FST. In the combined Chuvash sample, HS = 0.464 and FST = 0.006. Loci VNTR(DAT) and VNTR(ApoB) showed highest between-population differentiation (0.009 < or = FST < or = 0.012), and loci IVS6aGATT, APF, VNTR/eNOS, and D7S23 (KM.19), lowest differentiation (0.001 < or = FST < or = 0.003). Analysis of genetic distances revealed somewhat higher genetic similarity between the Cheboksarsk and Morgaush populations belonging to the highland Chuvash group, whereas the highland Chuvash population from the Marposad district, which belong to the mid-lowland group, was more distant from the former populations.

[The Russian gene pool. Genogeography of serum genetic markers (HP, GC, PI, TF)]. / Russkii genofond. Genografiia syvorotochnykh gennykh markerov (HP, GC, PI, TF).

The study continues the series of works on the Russian gene pool. Gene geographic analysis of four serum gene markers best studied in the Russian population (HP, GC, PI, and TF) has been performed. Gene-geographic electronic maps have been constructed for 14 alleles of these loci and their correlations with geographic latitude and longitude. For all maps, statistical characteristics are presented, including the variation range and mean gene frequencies, partial and multiple correlations with latitude and longitude, and parameters of heterozygosity and interpopulation diversity. The maps of five alleles (HP*1, GC*2, GC*1S, PI*M2, and TF*C2) are shown and analyzed in detail. The genetic relief and structural elements of the maps are compared with the ecumenical trends, main variation patterns of these genes in northern Eurasia, and genetic characteristics of the indigenous populations of the Urals and Europe.

[The Russian gene pool. Genogeography of erythrocyte genetic markers (ACP1, PGM1, ESD, GLO1, 6-PGD)]. / Russkii genofond. Genografiia éritrotsitarnykh gennykh markerov (ACP1, PGM1, ESD, GLO1, 6-PGD).

The study continues the series of works on the Russian gene pool. Gene geographic analysis of five erythrocytic gene markers best studied in the Russian population (ACP1, PGM1, ESD, GLO1, and 6-PGD) has been performed. Gene-geographic electronic maps have been constructed for 13 alleles of these loci and their correlations with geographic latitude and longitude. For all maps, statistical characteristics are presented, including the variation range and mean gene frequencies, partial and multiple correlations with latitude and longitude, and parameters of heterozygosity and interpopulation diversity. The maps of eight alleles (ACP1*A, ACP1*C, PGM1*2+, PGM1*2-, PGM1*1-, ESD*1, GLO1*1, and PGD*C) are shown and analyzed in detail. The genetic relief and structural elements of the maps are compared with the ecumenical trends, main variation patterns of these genes in northern Eurasia, and genetic characteristics of the indigenous populations of the Urals and Europe.

[Russian genofond. Genogeography of surnames]. / Russkii genofond. Genogeografiia familii.

Surnames are traditionally used in population genetics as "quasi-genetic" markers (i.e., analogs of genes) when studying the structure of the gene pool and the factors of its microevolution. In this study, spatial variation of Russian surnames was analyzed with the use of computer-based gene geography. Gene geography of surnames was demonstrated to be promising for population studies on the total Russian gene pool. Frequencies of surnames were studied in 64 sel'sovets (rural communities; a total of 33 thousand persons) of 52 raions (districts) of 22 oblasts (regions) of the European part of Russia. For each of 75 widespread surnames, an electronic map of its frequency was constructed. Summary maps of principal components were drawn based on all maps of individual surnames. The first 5 of 75 principal components accounted for half of the total variance, which indicates high resolving power of surnames. The map of the first principal component exhibits a trend directed from the northwestern to the eastern regions of the area studied. The trend of the second component was directed from the southwestern to the northern regions of the area studied, i.e., it was close to latitudinal. This trend almost coincided with the latitudinal trend of principal components for three sets of data (genetic, anthropological, and dermatoglyphical). Therefore, the latitudinal trend may be considered the main direction of variation of the Russian gene pool. The similarity between the main scenarios for the genetic and quasi-genetic markers demonstrates the effectiveness of the use of surnames for analysis of the Russian gene pool. In view of the dispute between R. Sokal and L.L. Cavalli-Sforza about the effects of false correlations, the maps of principal components of Russian surnames were constructed by two methods: through analysis of maps and through direct analysis of original data on the frequencies of surnames. An almost complete coincidence of these maps (correlation coefficient rho = 0.96) indicates that, taking into account the reliability of the data, the resultant maps of principal components have no errors of false correlations.

[Genogeographic analysis of a subdivided population. II. Geography of random inbreeding (from frequency of surnames in Adygs)]. / Genogeograficheskii analiz podrazdelennoi populiatsii. II. Geografiia sluchainogo inbridinga (po chastotam familii u Adygov).

An important characteristic of the genetic structure of populations, random inbreeding (interpopulation variation), was evaluated on the basis of quasi-genetic markers (surnames). The following methodological issues are considered: estimation of random inbreeding using the coefficient of isonymy fr in a subdivided population; a comparison of inbreeding levels calculated on the basis of surname frequencies using fr and Wright's FST; a comparison of inbreeding estimates obtained on the basis of surnames and genetic markers; inbreeding variation in populations of the same hierarchical rank; and planning of genetic studies of a subdivided population. The population of Adygs (an indigenous ethnic group of Northern Caucasus) was examined as a model subdivided population. The population system of Adygs is hierarchical. Parameters of random inbreeding were examined at each level of the system "ethnic group==>tribe==>geographic group of auls==>aul." Frequencies of surnames were collected subtotally. Data on frequencies of 1340 surnames in 61 auls representing all Adyg tribes were analyzed. In total, 60,000 people were examined. The inbreeding estimates obtained on the basis of Wright's FST and the coefficient of isonymy fr virtually coincided: for Adygs in general, FST x 10(2) = 2.13 and fr x 10(2) = 2.09. At the same time, the inbreeding level exhibited marked differences among tribes: in Shapsugs, these differences were an order of magnitude higher than in Kabardins (fr x 10(2) = 2.53 and 0.25, respectively). The inbreeding estimates for auls differed by two orders of magnitudes: fr x 10(2) = 0.07 and fr x 10(2) = 7.88. An analysis of ten auls yielded fully coinciding inbreeding estimates based on quasi-genetic (fr x 10(2) = 0.60) and classical (FST x 10(2) = 0.69) gene markers. Computer maps of surname distributions in Adygs (1340 maps) were constructed for the first time ever. Based on these maps, the map of random inbreeding in the Adyg population was obtained.

[Influence of population's genetic structure on the load size of monogenic hereditary diseases in Russia]. / Vliianie geneticheskoi struktury populiatsii na razmery gruza monogennykh nasledstvennykh boleznei v Rossiiskikh populiatsiiakh.

The paper presents the results of genetic and epidemiological study of populations in 5 Russian regions: the Kirov, Kostroma, and Bryansk Provinces, Krasnodar Territory, and the Republic of Mari El. The total size of the study population was over 1.5 million. Random inbreeding (Fst) in all Russian rural populations was significant and varied from 0.34 x 10(-3) to 7.6 x 10(-3). The prevalence rates for autosomal dominant (AD) disorders ranged from 0.22 to 3.93 per 1000. The load of autosomal recessive (AR) disorders varied from 0.17 to 2.01. The prevalence rates for AD and AR disorders was twice lower in the urban populations than those in the rural ones. The prevalence of X-linked recessive disorders was 0.33 per 1000 males. An analysis was made to examine the correlation between inherited diseases and Fst. The Pierson correlation coefficient was 0.81 and 0.87 for AD and AR disorders, respectively. The regression suggested that genetic differentiation of the populations with genes for hereditary disorders is partially related to gene drift. This suggestion was proved by genetic geographical mapping analysis. The similarity in the patterns of genetic distance distribution for all 3 genetic systems was revealed by the correlation coefficients between the maps for neutral genetic markers and the genes of AD and AR disorders which were equal to 0.67 and 0.65. There was the highest correlation coefficient between the maps of genetic distances for the genes of AD and AR disorders (Rs = 0.88).

[Genogeographic analysis of subdivided population. The Adyge gene pool in the Caucasian gene pool system]. / Genogeograficheskii analiz podrazdelennoi populiatsii. Genofond Adygov v sisteme Kavkazskikh genofondov.

A gene geographic analysis of the indigenous population of the Caucasian historical cultural province was carried out with a set of genetic markers extensively studied in the Adyges (39 alleles of 18 loci): AB0, ACP, C3, FY, GC, GLO, HP, KEL, LEW, MN, MNS, P, PGD, PGM1, RH-C, RH-D, RH-E, and TF. Genetic information on 160 Caucasian populations was used (on average, 65 populations per locus). A synthetic map of the first principal component clearly showed a division into two gene geographic provinces: Northern Caucasus and Transcaucasia. The component significantly differed across the Greater Caucasian Ridge. One of the major regions of extreme values corresponded to the Adyge region. A map of the second component revealed two poles, Northwestern (the Adyges) and Caspian, in gene pool variation of the Caucasian population. The analysis of the maps and the space of principal components showed that the Adyge population is an important component of the Caucasian gene pool. A map of genetic distance from all Caucasian populations to the Adyges showed that the north Caucasian populations (excluding the Ossetes) are the most genetically similar to the Adyges, while Georgians from the Kolkhida Valley and Azerbaijanians from the lowlands near the Caspian Sea and highland steppes are the most genetically remote from the Adyges. The genetic diversity (GST x 10(2)) of the entire Caucasian gene pool was studied. The average diversity of subpopulation within a Caucasian ethnos was GS-E = 0.81, the diversity of ethnoses within a linguistic family was GE-L = 0.83, and the diversity of linguistic families was GL-T = 0.58. The race classification of the Caucasian populations (GS-E = 0.81, GS-R = 0.80, GR-T = 0.76) proved to be more genetically informative than the linguistic one. The major parameters of the Adyges (total diversity HT = 0.364, heterozygosity HS = 0.361, and subpopulation diversity within the ethnos GS-E = 0.69) were similar to those averaged over the entire Caucasian population. A comparison with the same set of genetic markers showed that the interethnic diversity in the Caucasian region was lower than in the other north Eurasian regions (GS-E was 1.24 in the European region, 1.42 in the Ural region, 1.27 in Middle Asia, and 3.85 in Siberia).

[Diversity of hereditary pathology in the population of Marii El Republic and its differentiation with respect to gene frequencies for hereditary diseases]. / Raznoobrazie nasledstvennoi patologii u naseleniia respubliki Marii El i ee differentsitsiia po chastotam genov nasledstvennykh boleznei.

The diversity of Mendelian hereditary pathology was studied in Marii El Republic. In total, 276,900 subjects, including 171,151 Maris and 88,714 Russians, living in seven raions (districts) were studied. Fifty-five autosomal dominant disease entities were found, with more than ten diseases having a frequency of 1:50,000 people or higher. In Maris, autosomal recessive hypotrichosis was observed at a relatively high frequency (1:15,337); this disease was not revealed in the Russian population studied earlier. Conversely, no phenylketonuria (PKU) was found in Maris, while it was a relatively common autosomal recessive disease in Russians. Regarding autosomal dominant pathology, 76 disease entities were revealed, with 21 diseases being observed at a frequency of at least 1:50,000. Ten X-linked diseases were found. The numbers of both autosomal recessive and autosomal dominant diseases exhibited a linear relationship with the number of subjects examined. The genetic structure of the Mari population was studied on the basis of data on the genes of recessive diseases. A matrix of Nei's genetic distances was calculated from the frequencies of 45 recessive diseases found in the seven districts studied. The average genetic distance calculated for the 45 loci of autosomal recessive diseases was 0.006175 x 10(-3). Similarly, matrix of genetic distances for five Mari populations was obtained (Medvedevskii and Zvenigovskii raions were not included) based on a total of 32 allelic frequencies for ten polymorphic immune and biochemical loci. The average genetic distance calculated from the ten polymorphic loci was 0.001930, i.e., 2.5 orders of magnitude greater than the average genetic distance for recessive diseases. The matrices of genetic distances for the five Mari populations calculated from the gene frequencies for recessive diseases and for the ten polymorphic systems were largely similar to each other. Thus, the main elements of the genetic structure of the Mari population can be estimated on the basis of gene frequencies for hereditary diseases. In this case, the characteristics of individual populations, which are more or less isolated, and of their interaction are the same as in the case of studying genetic structure with the use of polymorphic biological markers.