[Correlation between polymorphic variants of the genes for transferrin and angiotensin-converting enzyme and antioxidant activity of blood plasma]. / Vzaimosviaz' polimorfnykh variantov genov transferrina i angiotenzin-prevrashchaiushchego fermenta s antioksidantnoi aktivnost'iu plazmy krovi.

In 75 male and 46 female subjects of an urban population (93% Russians) and in 38 males and 40 females of a rural population (87% Russians), the antioxidant activity (AOA) of blood plasma was determined from the plasma ability to reduce the yield of products interacting with thiobarbituric acid in the model lecithin-Fe2+ ion system. In the urban population, the loci TF (AvaI in exon5) and ACE (I/D polymorphism of the Alu repeat in intron16) were studied in 130 and 141 subjects, respectively. Of them, 102 and 111 subjects, respectively, were examined for AOA. In the rural population, the corresponding sample sizes were 75 and 76 (73 and 74 subjects were examined for AOA). The polymorphic loci of the urban and rural populations did not differ in the allele frequencies. In both populations Hardy--Weinberg and gametic equilibria were observed. The contributions of the TF and ACE genes to AOA variation in the combined sample from the urban and rural populations were 0.6 and 0.5%, respectively.

[Analysis of distribution of "mongoloid" haplogroups of mitochondrial DNA among indigenous population of the Tuva Republic]. / Analiz rasprostranennosti "mongoloidnykh" gaplogrupp mitokhondrial'noi DNK sredi korennogo naseleniia Tuvy.

Variation of Mongoloid-specific restriction sites of mitochondrial genome was analyzed in three territorial groups of Tuvinians. Distribution of mitochondrial DNA haplogroups A, B, C, and D on the territory of the Tuva Republic was estimated. The populations studied did not display distinct differentiation in respect to the mtDNA polymorphism. The specific feature of Tuvinian mitochondrial gene pool was the prevalence of only one haplogroup C (over 40%), mainly represented by two mitotypes. The high frequency of this haplogroup makes Tuvinians similar to more northern Siberian populations. On the other hand, the presence of haplogroup B indicates that Tuvinians have affinity to ethnic groups of Central Asia.

[Polymorphism T174M of the angiotensinogen gene in Siberian populations]. / Polimorfizm T174M gena angiotenzinogena v Sibirskikh populiatsiiakh.

The level of T174M polymorphism of the angiotensinogen gene (AGT) was studied for the first time in Siberian populations. The frequency of allele M was found to be 7% in Russians, 6% in Tuvinians, and 4% in Buryats. In the Mongoloid population of Siberia (Tuvinians and Buryats), the genotypic frequencies deviated from Hardy-Weinberg equilibrium (P < 0.05). The studied polymorphism of the AGT gene determined in Siberian populations was compared with that of other ethnic groups in the world population, and genetic distinctions were estimated. Only the Buryat population was found to differ significantly from the French, English, and Chinese in the frequency of allele M. No association between the T174M polymorphism of the AGT gene and pathological pregnancy (gestosis) was revealed in Buryat women.

[Distribution of a deletion-insertion polymorphism in intergenic region V of mitochondrial DNA among the aboriginal population of Tuva]. / Rasprostranenie deletsionno-insertsionnogo polimorfizma V mezhgennogo raiona mitokhondrial'noi DNK sredi korennogo naseleniia Tuvy.

Mitochondrial DNA region V deletion-insertion polymorphism was examined in three Tuvinian populations inhabiting western, northeastern, and southeastern parts of the republic. The 9-bp deletion was characterized by nonrandom distribution across the Tuva territory: its frequency in the western population (13.37%) was statistically significantly higher than that in the northeastern (4.62%), and southeastern populations, as well as in Mongols, who are territorially and ethnically close to Tuvinians. The insertion mutation in the region V was detected with a frequency of about 3% in two out of the three populations tested.

[Restriction polymorphism of the major noncoding region of mtDNA in the indigenous population of the TUVA republic]. / Restriktsionnyi polimorfizm glavnogo nekodiruiushchego raiona mtDNK u korennogo naseleniia respubliki Tuva.

Mitochondrial DNA sequence variation was examined in three rural populations of the indigenous inhabitants from the Tuva Republic. The frequencies of restriction sites within the D-loop region of mtDNA were determined. The three populations studied demonstrated similar patterns of mtDNA polymorphism. Like other Siberian populations, Tuvinians were characterized by high frequencies of the HaeIII 16517 and AspS9I (Cfr13I) 16516 restriction sites (about 75%). Moreover, in Tuvinians, a relatively low (71 to 81%) frequency of the KpnI 16129 restriction site was observed. The frequency of the mitotype differing from the Cambridge sequence by the HaeIII 16517 and KpnI 16129 sites in Tuvinians was higher than in Mongols and Russians. The features of mtDNA polymorphism point to the similarity between Tuvinians and other Siberian ethnic groups (Sel'kups in particular). This can be explained by the contribution of the Samoyed component, along with the Turkic and Mongoloid ones, to the formation of the Tuvinian ethnic group.

Phylogenetic signals from point mutations and polymorphic Alu insertions.

Allelic frequency data derived from five polymorphic Alu insertion loci and five point mutation polymorphic loci were compared to determine their ability to infer phylogenetic relationships among human populations. While point mutation polymorphisms inferred a monophyletic Caucasian clade that is corroborated by other studies, these data failed to support the generally accepted monophyly of Orientals with native Americans. In addition, there is less statistical bootstrap support for the maximum-likelihood tree derived from the point mutation polymorphisms as compared to those generated from either the Alu insertion data or the combined Alu insertion + point mutation data. The Alu data and the combined Alu insertion + point mutation data inferred a monophyletic relationship among the Oriental and native American populations. The Alu insertion data and the combined Alu insertion + point mutation data also displayed two separate, well defined, tight clusters of the Caucasian and the Oriental + native American populations which was not inferred from the point mutation data. These findings indicate greater phylogenetic information contained in Alu insertion frequencies than in allelic frequencies derived from point-mutations.

[Polymorphism of noncoding regions of the mitochondrial genome in the indigenous population of Southeastern Tuva Republic]. / Polimorfizm nekodiruiushchikh oblastei mitokhondrial'nogo genoma u korennogo naseleniia iugo-vostoka Tuvy.

Deletion-insertion polymorphism of the V region and restriction polymorphism of D-loop for seven restriction enzymes--AspS9I (Cfr3I isoschizomere), BamHI, Bme18I (AvaII), EcoRV, HaeIII, KpnI, and Kzo9I (Sau3AI)--in mitochondrial DNA (mt DNA) were studied in the indigenous population of southeastern Tuva Republic. The results were compared with the data on Russians, Mongols, Buryats, and Altaians. Tuvinians significantly differed from Mongols in the frequency of the 9-bp deletion of the V region (1.89 and 8.07%, respectively). Additionally, significant differences between Tuvinians and samples of Mongols and Russians were obtained for frequencies of the AspS9I, HaeIII, and KpnI restriction sites. A comparison of the polymorphism of mitochondrial genome in individuals of different sexes and ages was performed in the studied sample.

[Dynamics of the marital structure with respect to the nationality and birthplace of spouses in a modern urbanized Siberian population (as exemplified by Tomsk)]. / Dinamika struktury brakov po natsional'nosti i mestam rozhdeniia suprugov v sovremennoi urbanizirovannoi sibirskoi populiatsii (na primere g. Tomska).

To analyze a population's marital structure with respect to the ethnicity and birthplace of the spouses and to estimate the indices of endogamy, migration, and marriage assortativeness, the records of marriages in Tomsk during two periods of time (1970-1972 and 1985-1990) were studied. The parameters of the population-genetic and demographic structure proved to change during the studied period: the endogamy index and the indices of marriage assortativeness increased, and the migration index decreased. These data suggest that the genetic structure of the Tomsk urbanized population stabilized with time and that the intrapopulation subdivision decreased (a tendency for panmixia).

[Genetic-demographic characteristics of farming regions and small cities of the Tomsk district]. / Genetiko-demograficheskaia kharakteristika sel'skikh raionov i malykh gorodov Tomskoi oblasti.

In nine of the sixteen rural regions and three small towns in Tomskaya oblast, marriage structure with regard to birth place and ethnicity of spouses was genetically and demographically studied by selectively analyzing marriage records from 1970-1985. Migration processes of high intensity were shown to be characteristic of rural and urban inhabitants of Tomskaya oblast. High values of the migration index (0.56 for rural regions and 0.75 for small towns) and low values of the local endogamy index (0.22 and 0.08 respectively) were obtained. Analysis of marriage assortativeness according to birth place and ethnicity of spouses demonstrated, in total, low but statistically significant estimates of marriage assortativeness. Subdivision of oblast populations was determined mainly by ethnicity.

[The etiological aspects of the sick sinus syndrome]. / Nekotorye étiologicheskie aspekty sindroma slabosti sinusovogo uzla.

A clinico-genetic study of sick sinus syndrome in Krasnoyarsk population established its prevalence as 0.296%. The disease affected females more frequently than males. The highest morbidity was registered at the age 60-69. Genetic evaluation demonstrated high hereditary predisposition to the syndrome as it developed in 60 out of 309 (19.4%) relatives of the patients, the inheritance being autosomal dominant and in part sex-limited. Females predominated among the disease-affected relatives and among those whose relatives had the syndrome. The syndrome is also age-related. The authors discuss the role of ischemic heart disease in the origin of sick sinus syndrome.

[The population variability of cortisol and thyroid hormone levels in northern Khanty]. / Populiatsionnaia izmenchivost' urovnei kortizola i tireoidnykh gormonov u severnykh khantov.

The cortisol, thyroid-stimulating hormone (TSH), thyroxine (T4) and triiodothyronine (T3) levels were studied in the north Khanty population. 718 individuals of both sexes aged over 10 years were examined in August, November and December. The cortisol and TSH levels were characterized by nonlinear age dependence. Negative linear correlations between age and hormone levels were more obvious for T3 and T4 and higher in males. The mean plasma cortisol and T3 levels were significantly higher in males. Significant seasonal differences in T4 levels were observed, the minimal mean values having been found in August.

[Multifaceted analysis of the interactions of morphophysiologic signs and ischemic ECG changes (a population study)]. / Mnogomernyi analiz vzaimosviazei morfofiziologicheskikh priznakov i ishemicheskikh izmenenii EKG (populiatsionnoe issledovanie).

Relationships between serum lipid and lipoprotein levels, arterial blood pressure, body weight and age, on the one hand, and coronary heart disease (CHD), on the other, were investigated by means of the main constituents analysis in a Northern Khant population. The pattern of relationship between the parameters in question was similar, by the first main constituent, in males and females, and suggested their age-dependence, unrelated to CHD. The second constituent, as a sum total of the effects of another factor, showed an unbalance between body weight and blood lipids, which was correlated with CHD in males and remained indifferent with respect to CHD in females.

[The prevalence of ECG ischemic changes and their relation to basic risk factors among the Khanty of the Ob River region]. / Rasprostranennost' ishemicheskikh izmenenii EKG i ikh sviaz' s osnovnymi faktorami riska u obskikh khantov.

The incidence of coronary heart disease (CHD) was determined, on the basis of extended Minnesota code criteria, in a Siberian population of northern Khanty of both sexes, aged 19 to 69 years (a total of 721 people). CHD prevalence by age was 34 +/- 3% in males and 24 +/- 2% in females. CHD prevalence in males below 40 showed no significant relation with any of the major risk factors, while a positive correlation with hypercholesterolemia and hypo-alpha-cholesterolemia was noted in people of older age. Females of different age showed a negative correlation with arterial hypertension, and a positive correlation with hypercholesterolemia and hypertriglyceridemia. Excessive body weight is not a CHD risk factor for the Khanty.

[Genetic and epidemiologic study of blood pressure in an autochthonous population of the Northern Ob basin. Evaluation of heredity of blood pressure parameters and correlations of arterial hypertension and genetic markers]. / Genetiko-épidemiologicheskie issledovanie AD u korennogo naseleniia obskogo severa: otsenka nasleduemosti parametrov AD i vzaimosviazi arterial'noi gipertonii s geneticheskimi markerami.

A study of intrafamilial correlations between systolic and diastolic arterial blood pressure, and the heritability of these parameters as well as relationships between some genetic markers and arterial hypertension in a Northern Khant population is reported. There were no correlations in the BP parameters mentioned between spouses, while the sibs correlations prevailed over the parents-children ones. Heritability was higher for systolic BP, as compared to diastolic BP. A relationship was demonstrated between MN blood group and arterial BP. Males with phenotype O were shown to be less adaptable to diastolic BP rise.

[Genetic epidemiological study of blood pressure in the native population of the northern Ob River basin: sex-age dynamics and incidence of arterial hypertension]. / Genetiko-épidemiologicheskoe issledovanie AD u korennogo naseleniia Obskogo Severa: polovovozrastnaia dinamika i rasprostranennost' arterial'noi gipertonii.

Sex- and age-related changes in arterial BP are demonstrated in a population of northern Khanty. Positive correlations between BP and age in both males and females, and significant BP differences between sexes at certain ages are reported. Similar age-related changes are found in the incidence of arterial hypertension in the examined population, while there are no sex-related or subpopulation differences. Northern Khanty BP distribution corresponds to the normal one after age-related differences are excluded. It is suggested that the examined BP parameters are inherited through a polygenic mechanism.