[Analysis of Alu-insertion polymorphism in three subethnic groups of Kalmyks].

Eight Alu insertions at the NBC27, TPA25, NBC148, NBC123, ACE, APOA1, NBC51, and PV92 locus were examined in three subethnic groups of Kalmyks (Torgouds, Derbets, and Buzava). In general, the pattern of allele frequencies in Kalmyks was consistent with that in Asian populations of the world, and was similar to the Alu insertion frequencies pattern in Turkic populations of the Volga--Ural region and Central Asia. Pairwise comparisons of three subpopulations of Kalmyks with respect to the frequency distributions of eight Alu insertions revealed the differences between the groups examined. The coefficient of gene differentiation, F(st), constituted 1.37%, pointing to the common origin of the groups of interest, as well as to the uniformity of the gene pools of subethnic groups of Kalmyks examined.

[Analysis of mitochondrial DNA variation in the population of Oroks].

Mitochondrial DNA (mtDNA) variation was studied in population of Oroks (n = 61), the indigenous inhabitants of Eastern Siberia. Most of the mtDNA types examined fell into five haplogroups (C, D, G, M10, and Y) typical of Eastern Eurasian populations. For three haplogroups (D, C, and M10), the founder effect was established. In one individual, a unique lineage belonging to haplogroup HV and typical of Caucasoids was detected.

Apolipoprotein B 3'-VNTR polymorphism in Eastern European populations.

Apolipoprotein B 3' (3' ApoB) minisatellite polymorphism was studied in healthy unrelated individuals from the Russian Federation and the Republic of Belarus, in 10 populations from five ethnic groups: Russians, Byelorussians, Adygeis, Kalmyks and Yakuts. The analysis was carried out using PCR and electrophoresis followed by silver staining. Overall, 25 alleles of the 3' ApoB minisatellite, ranging from 25 to 55 repeats, were detected. Heterozygosity indices were high and varied from 0.73 to 0.84. The distributions of alleles of this minisatellite in the Caucasoid populations (Russians, Byelorussians and Adygeis) had a bimodal character, whereas that for Mongoloid populations (Kalmyks and Yakuts) had a unimodal distribution. Nei's genetic distances between the populations studied and some reference populations of Europe and Asia were estimated. Despite their allele distribution homogeneity, different East Slavonic ethnic groups were clearly resolved by multidimensional analyses. The East Slavonic and Adygei populations revealed a high similarity with European Caucasoids. The Mongoloid populations (Kalmyks and Yakuts) were considerably different from those of the European Caucasoid populations, but were similar to other Asian Mongoloid populations. The results demonstrate the variability of 3' ApoB minisatellite polymorphism not only in distant populations but also, to a certain extent, in genetically relative ones.

Fine mapping of a polymorphic CA repeat marker on human chromosome 19 and its use in population studies.

A highly polymorphic microsatellite (CA)n-marker (CAct685) previously isolated from human chromosome 19 cosmid library was localized near GPI in 19q13.1. For the fine localization of this marker, the hybridization with chromosome 19-specific cosmid libraries assembled in contigs was used. Polymorphism analysis of the marker in 12 populations of Russia and neighboring countries showed 14 alleles containing from 16 to 30 repeat units. Populations belonging to Indo-European, Uralic and Altaic linguistic families demonstrated a great similarity in allele frequency profiles. Differences between these populations were lower for CAct685 than for classical markers. Allele distribution of CAct685 in a Chukchi population belonging to the Chukchi-Kamchatkan linguistic family differs from those in all other populations, that may be typical for Mongoloid population or reflect an ethnic history of Chukchi as a small population. Thus use of the CAct685 marker seems to be effective for analysis of distant peoples.

[New locus of cholinesterase (E3) expressed in human milk]. / Novyi lokus kholinésterazy (E3), ékspressiruiushchiisia v zhenskom moloke.

Analysis of structural variation in enzymes and other proteins of human milk revealed polymorphism of the protein exhibiting cholinesterase activity. The distribution of cholinesterase activity zones after electrophoresis of milk proteins in polyacrylamide gel differs from the pattern typical for serum cholinesterase. Samples of milk taken from 132 recently confined Russian women, which were obtained from Moscow district maternity hospital, were subjected to population analysis. Four phenotypes of the locus designated as E3, have been identified: 1-1, 2-1, 2-2 and 3-1. Preliminary visual evaluation of the electrophoretic pattern allows as to differentiate phenotypes in the following order according to enzyme activity: 2-2 > 2-1 > 3-1 > 1-1. It seems most probable that the revealed variants of cholinesterase E3 are determined by three alleles of one autosomic locus with the following frequencies: E3*1 = 0.8296; E3*2 = 0.1629 and E3*3 = 0.0075. The obtained distribution of E3 phenotypes is in good agreement with the expected one with chi 2(1) = 0.9378.

[Interrelation of genetic dimorphism of ear wax and the level of apolipoproteins with atherogenesis and longevity in the Lithuanian population]. / Sopriazhennost' geneticheskogo dimorfizma ushnoi sery i urovnia apolipoproteinov s aterogenezom i dolgoletiem v populiatsii Litvy.

Genetic dimorphism of the cerumen was studied in a random sample from the Lithuanian population (N = 253), among the patients with the most atherosclerotic risk, from different age groups (N = 276) and in a cohort of long-living (N = 117). Simultaneously, the levels of apolipoprotein (apo- A-1, B, E) were determined in blood sera of the males-donors, long-living and elderly individuals depending on the phenotypes for ear wax consistency. The prevalence of frequency of the w gene for humid cerumen in children suffering from the insulin-dependent diabetes mellitus was found as compared with populational sample--0.8293 and 0.6024, respectively (P < 0.002). On the contrary, essential increase in frequency of the d gene responsible for dry cerumen in long living was found as compared with the control--0.5311 and 0.3976, respectively (P < 0.01). An absence of differences in the concentrations of w and d alleles among the patients with coronary artery atherosclerosis and the populational control indicated that the genetic characters under study exerted no marked change in incidence of atherogenesis. However, the ratio apoB/apoA-1 proved higher in the donors with humid ear wax than in those with the dry variant under P < 0.06, which can stimulate this disease. The results of this study support the statement that low level of apoB and especially apoB/apoA-1 may be one of the longevity markers.

[Subtypes of serum group specific component (Gc) in normal conditions and in pathology]. / Subtipy gruppospetsificheskogo komponenta syvorotki krovi (Gc) v norme i pri patologii.

In the framework of the ecogenetic research programme, the data are presented on the genetic polymorphism of the vitamin D-binding protein (Gc) in various USSR populations. Blood serum samples were studied, taken from the Russians of the town Yegorievsk, Moscow Region (p = 321) and 113 Russian patients with tuberculosis using the method of isoelectrofocusing. The information was obtained of the Gc frequencies in two population units of Buryats of Aginsky and Ost-Ordynsky Autonomous Districts of Chita and Irkutsk Regions, including the Olkhon island (on the lake Baikal), in totality, 593 individuals and 13 local groups. The position of the studied Russian and Buryat groups within the gene frequency co-ordinate space is well in line with the estimated area of their localization, with regard to the world distribution. Among the Buryat populations studied, there is distinct heterogeneity for which the factor Gc1F plays a leading role within the Gc system/responsible for 92% of all possible genetic variability. Gc factor frequencies in Buryats range within the following limits: 1F.-0.3864-0.6023, 1S-0.1895-0.4535, 2-0.1364-0.2581. For the Russians of Yegorievsk and the patients with tuberculosis of Moscow and Moscow Region following allele frequencies are established: 1-F0.1169, 1S-0.5476, 2-0.1364 and 1F-0.1106, 1S-0.5531, 2-0.3363, respectively, which indicates that no association exists between Gc variants and tuberculosis. The correlation of the Gc allele frequency distribution with the ratio of insulin-independent diabetes (type 2) world-wide indicates that expression of high frequency of diseases is accompanied with comparatively rare characteristic combination of frequencies of three Gc alleles.

[Ecogenetic cause of polymorphism of transferrin (Tf) in various sex and age groups of Russians and Buryats]. / Ekogeneticheskaia obuslovlennost' polimorfizma transferrina (Tf) v raznykh polovozrastnykh gruppakh u russkikh i buriat.

The distribution of transferrin (Tf) suballeles have been studied in Russians and Buriats, in connection with sex-age characters. No directional change in Tf suballele frequencies was obtained for age cohorts of Buriats. The tendency for decrease in the Tf allele frequency was noted in oldest age groups of Russians. The differences between Russians and Buriats were conditioned by differences between female subgroups, with respect to transferrins solely. The frequencies of relatively rare Tf alleles (C3, B, D) were higher in female subgroups, as compared with males.

[Genetic geography of inherited dimorphism of ear wax by its consistency]. / Genogeografiia nasledstvennogo dimorfizma ushnoi sery po ee konsistentsii.

Data on cerumen types were collected in three population groups of Pamir mountain region. The observed frequencies of dominant w and recessive d alleles which determine wet and dry types of ear wax are equal, accordingly: in Khuf population (Western Pamir) to 0.6603 and 0.3397; in Pastkhuff population (Western Pamir) to 0.6078 and 0.3922; in Kirghizes of Central Pamir to 0.3606 and 0.6394. We present data on cerumen types in 23 populations of the USSR also. The world information on distribution cerumen types was summed up (over 80 populations). No connection of gene frequencies of cerumen with natural abiotic factors of environment was revealed. Strong correlation of the genes described with mongoloid peculiarities was established: epicanthus r = 0.718, the haplotype Gmz, a, b, 0, 3, 5, s, t (Gm(1, 11, 13, 15, 16) r = 0.522.

[Hereditary polymorphism of glutathione-S-transferase in the human liver in normal conditions and in alcoholic hepatitis]. / Nasledstvennyi polimorfizm glutation-S-transferazy pecheni cheloveka v norme i pri alkogol'nom gepatite.

A total of 100 autopsy liver extracts from Russian individuals were examined for glutathione-S-transferase I (GST1) isozymes by means of starch gel electrophoresis. The gene frequencies of GST1* 1, GST1* 2 and GST1* 0 were 0.051, 0.251 and 0.697, respectively. Analysis of data obtained and those in literature for other populations revealed the difference between European and Mongoloid groups. The GST1 0 phenotype was found in samples of liver from individuals with alcoholic hepatitis at frequency 77.3%. The gene frequencies for GST1* 1, GST1* 2 and GST1* 0 were 0.020, 0.100 and 0.879, respectively.

[Differences in allele frequency at the BAIB locus, determining the level of expression of beta-aminoisobutyric acid, in healthy donors and coronary artery atherosclerosis patients from Buryat and Lithuanian populations]. / Razlichiia v chastotakh alleleiv lokuse BAIB, opredeliaiushchem uroven' i ékspretsii beta-aminoizomaslianoi kisloty, u zdorovykh donorov i bol'nykh aterosklerozom koronarnykh arterii iz buriatskoi i litovskoi populiatsii.

Phenotype and allele frequencies of the genetically dimorphic system determining urinary excretion of beta-aminoisobutyric acid (BAIB) were studied in population samples of Buryats from the Aginskii Buryat Autonomous District and Lithuanians from Vilnius and in patients with coronary atherosclerosis (CA) from both populations. Frequency of allele BAIB*b, which determines high BAIB excretion, proved to be more than twice higher in Buryats compared with the population sample of Lithuanians (0.620 versus 0.289, respectively). The proportion of individuals with high BAIB excretion in CA patients of either ethnic sample was twice higher than in the corresponding control sample. Frequency of allele BAIB*b in CA patients and healthy individuals was 0.348 and 0.242, respectively, in the Lithuanian population and 0.775 and 0.557, respectively, in the Buryat population. Thus, assessment of urinary excretion of BAIB proved to be prognostically valuable. The method used to detect a variation in BAIB excretion is relatively inexpensive, simple, and suitable for mass screening of patients and healthy individuals (population control). After additional testing with representative samples, the method can be used as an accessory diagnostic test in patients with cardiovascular disorders.

[Genetic-demographic study of the Gagauz population of Moldava]. / Genetiko-demograficheskoe issledovanie populiatsii gagauzov Moldavii.

The genetic demographic structure of the Gagauz population of Moldova has been described for the first time. Data of interviews and official records have been used to analyze the sex and age structure of the population and marriage relationships, as well as to estimate the effective sizes of the populations of six settlements and selection intensity (according to Crow's formula). The demographic data indicate that social transformations have substantially affected the genetic demographic parameters of the population. The gene exchange rate per generation has been determined (m = 0.0204 in 1972 and m = 0.0309 in 1997). The estimated ratio between the components of Crow's index (I(m) < I(f)) in the Gagauz population is similar to those for the populations of developed countries with traditionally rural lifestyles. The study of marriage relationships of the Gagauz population has shown that Gagauzes are intensely mixing with Moldovans, Bulgarians, Russians, and Ukrainians.

[Distribution of ABO, MN, Rh blood groups and Hp, Tr, Gc and C3 serum factors in the Buryat population]. / Raspredelenie grupp krovi ABO, MN, Rh, i syvorotochnykh faktorov Hp, Tf, Gc, i C3 v buriatskikh populiatsiiakh.

Polymorphism of blood groups ABO, MN, Rh and serum proteins Hp, Tf, Gc, C3 was studied in Buryat populations of Zabaikalie, Pribaikalie, Olkhon island. No indication of significant heterogeneity was observed. Gene frequencies varied in different systems within the ranges: ABO (p-0.142-0.183; q-0.205-0.324; r-0.567-0.630); MN (m-0.531-0.624), Rh(d) (0-0.214), Hp (Hp 1-0.268-0.339), C3 (C3F-0.023-0.090), Tf (TfC-0.971-1.0), Gc (Gc1-0.728-0.840). Genetic distances between main Buryat groups were estimated.

[Feasibility of establishing genetic homeostasis in human populations using a complex of genetic markers]. / Vozmozhnost' ustanovleniia geneticheskogo gomeostaza v populiatsiiakh cheloveka po kompleksu markerov genov.

The information that we have about functional connection of different phenotypes of independent loci served for identification of their reciprocal behavior in cohorts differed in healthy status from the same population. Coefficients of correlation were computed between phenotypes according to the scheme: everyone with all in a Buryat, on the basis of the distribution of 17 genetic loci. Their space was transformed to a standardized one of eigenvectors. Calculation of the distances between genotypes was performed using the Euclidean formula. The same distances were estimated using an alternative formula of reverse cosine from correlation. It was determined: 1) subgroups of ecological risk and adaptive norm have peculiarities of phenotypical combinations; 2) the number of reliable correlations between phenotypes 2.5 times exceeded that in the adaptive part of the population as compared with unfavourable cohort (according to the health status); 3) the proportion of attractably connected phenotypes (the effect of their interaction) was higher than the corresponding repulsive connected ones (the effect of their repulsion) in the adaptive standard subgroup; 4) on the contrary, the proportion of repulsively connected phenotypes prevailed over the corresponding attractably associated ones in the ecological risk subgroup; 5) there were smaller genetic distances between phenotypes in the adaptive norm subgroup as compared with those in the ecological risk cohort. All these data permit to narrate about considerably greater functional balance of the studied portion of the genome in the clinically healthy subgroups that express the display of genetic homeostasis in complex discrete nonlinked characters. Interloci correlation between Hp and Cerumen systems in the three populations studied were obtained.

[The association of genetic and functional variability of alpha 1-antitrypsin in asbestosis]. / Sopriazhennost' geneticheskoi i funktsional'noi izmenchivosti alpha 1-antitripsina pri asbestoze.

The polymorphism and serum levels of alpha 1-antitrypsin (AT) were studied in asbestosis patients, the control and the workers exposed to mineral flax longer or less than ten years. M1S, M3S, M1Z and M2M2 phenotypes had low concentration of this protein. In the course of contact with mineral flax decrease in alpha 1-AT concentration was found. The phenotypes with low protein levels were very rare among workers contacting with asbestos for a long time, and one of them--M1S was more often encountered in asbestosis patients. The standard deviation from the alpha 1-AT concentration was significantly higher in asbestosis patients.

[Ecogenetic aspects of the study of phenotypes and levels of beta-aminoisobutyric acid excretion]. / Ekogeneticheskie aspekty izucheniia fenotipov i urovnei ékskretsii beta-aminoizomaslianoi kisloty.

The levels of excretion of beta-aminoisobutyric acid (BAIB) in urea were examined in five groups. The distribution of BAIB concentration revealed the existence of high and low excretors in each group. Asbestosis patients had the lowest frequency of high excretors. The BAIB concentration among high excretors was similar for all the groups. The BAIB levels of low excretors varied. The most alike were two children groups, asbestosis patients and the workers from the town Asbest.

[Genetic dimorphism in beta-aminoisobutyric acid excretion in patients with atherosclerosis of the coronary artery and in groups at risk for atherosclerosis in the Lithuanian population]. / Issledovanie geneticheskogo dimorfizma v ékskretsii beta-aminoizomaslianoi kisloty u bol'nykh aterosklerozom koronarnykh arterii i v gruppakh ateroskleroznogo riska v litovskoi populiatsii.

Frequency of genetic variants of excretion of beta-aminoisobutyric acid (BAIB) in the urea was examined in patients suffering from atherosclerosis of coronary arteries and in risk group for atherosclerosis: children frequently suffering from respiratory viral infection, children with insulin-dependent diabetes mellitus (IDDM) and in adults suffering from IDDM and non-insulin-dependent diabetes mellitus. With the aim to determine whether excretion of BAIB could be related with CMV persistence of with proteolytic activity of blood serum the IgG class antibodies against CMV and level of alpha 1-proteinase inhibitor (alpha 1-PI) in blood serum was tested also. Frequency of high excretors of BAIB was found significantly more often (P < 0.01) in children suffering from virus infection compared to that of population. Frequency distribution of BAIB excretion showed that "high excretors" were found significantly more often in children suffering from atherosclerosis. The difference of BAIB excretion among healthy and diabetics was not defined (P > 0.05). The changes of excretion of BAIB in urea were not related with quantity of alpha 1-PI in blood serum. Investigation reveal a possible relation between high BAIB excretor and latent CMV infection and that this may impact atherogenesis. This leads to a suggestion that children who are often ill with respiratory virus infection may constitute a risk group for coronary atherosclerosis.

[Genetic polymorphism of haptoglobin and quantitative changes in its levels during exposure to asbestos]. / Geneticheskii polimorfizm gaptoglobina i kolichestvennye izmeneniia v ego soderzhanii pri vozdeistvii asbesta.

The polymorphism and serum levels of haptoglobin were studied in asbestosis patients, in the control and the workers exposed to asbest. Hp1-1 has the highest, Hp2-2--the lowest and Hp2-1 has the intermediate concentration of this protein. In the course of contact with asbest, and especially in asbestosis patients, the haptoglobin levels are higher (for all phenotypes). The standard deviation from the Hp concentration in asbestosis patients was significantly higher. The phenotypes Hp1-1 were found more often in asbestosis patients than among asbest-exposed workers.

[Characteristics of the gene pool of the Gagauz population of Moldova]. / Issledovanie osobennostei genofonda gagauzov Moldavii.

Population genetic data on Gagauzes from Moldova are reported for the first time. Blood groups AB0 and Rh and biochemical markers of genes HP, TF, GC, and PGM1 were determined in 190 Gagauzes. The following allelic frequencies were determined: AB0*0, 0.5241; AB0*A, 0.3279; RH*d, 0.4571; HP*1, 0.3544; TF*C1, 0.7472; TF*C2, 0.1770; TFC3, 0.0730; TF*B, 0.0028; GC*1F, 0.1025; GC*1S, 0.5932; GC*2, 0.3043; PGM1*1+, 0.5286; PGM*1-, 0.1000; PGM1*2+, 0.2607; and PGM1*2-, 0.1107. The data obtained indicate that the gene pool of Gagauzes is similar to those of neighboring southeastern European populations.

[Distribution of C subtypes and other Tf variants in populations of the USSR]. / Osobennosti raspredeleniia subtipov C i drugikh variantov Tf v populiatsiiakh SSSR.

Serum samples from seventeen Caucasoids and Mongoloid populations of the USSR were tested for transferrin (Tf) subtypes. According to Tf patterns, the Caucasoids groups had high TfC1 frequency, whereas Mongoloids are characterized by increased frequency of TfC2 suballele. The following gene frequencies were observed: TfC1 - 0.8515, TfC2 - 0.1166, TfC3 - 0.0129, TfD - 0.0129, TfB - 0.0065 for Russians of Yegoryevsk town; TfC1 - 0.8663, TfC2 - 0.0930, TfC3 - 0.0233 for West-Pamirian populations of Khuf, those being for Pastkhuf 0.8476, 0.1159 and 0.0244, respectively. Mongoloid populations demonstrate following frequencies of five genes described (in the order shown above): 0.7870, 0.1620, 0.0232, 0.0139 for Kirghizes of East Pamir; 0.7963, 0.1805, 0.0050, 0.0182 for Buriats of Suduntui; 0.7647, 0.1985, 0.0074, 0.0221, 0.0037 and 0.0037 (gene TfDX) for Buriats of Sakhiurta, the frequencies of these genes being 0.7647, 0.1985, 0.0074, 0.021, 0.0037 and 0.0037 for Aginsky national district, Chita Region. The total sample of Buriats of Gakhan cluster (Ust-Ordyn national district) and Olkhon island of Irkutsk Region demonstrates following frequencies of genes (in the same order): 0.7876, 0.1962, 0.0012, 0.0057, 0.0082 and 0.7679 and 0.2321, respectively. In addition, a rare anodal variant designated tentatively TfC12Like was found among Pamir populations. The results obtained are compared with those reported for world populations.