Biomedical subjects

V A Spitsyn

Publications and source records attributed to V A Spitsyn.

At least 73 records · Page 4Linked to original sources

PubMed1993

[Interrelation of genetic dimorphism of ear wax and the level of apolipoproteins with atherogenesis and longevity in the Lithuanian population].

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.

Adolescent↗

PubMed1992

[Gene manifestations in negative man-made environment: a selective genetically determined sensitivity to asbestos].

Genetic polymorphism of the systems of haptoglobin, transferrin, alpha 1-antitrypsin and complement C3 was investigated in patients with asbestosis and in healthy individuals who contacted with asbestos for a long time. The significant differences were discovered between the groups under comparison in the distribution of the phenotypic and genic frequencies in these loci. Simultaneous studies of the levels of these proteins depending on the phenotype demonstrated differentiation of the patients and healthy subjects according to the mean values and dispersions. The data obtained provide evidence in favour of occupational selection as regards the genetic factors investigated.

Asbestos↗

PubMed1992

[Biodemographic parameters as indicators of genetic adaptation to harmful occupational factors (e.g. asbestos)].

A total of 129 women working at asbestos-concentrating factories and asbestos articles manufacture plant, including 87 of them facing asbestosis and 42 exposed to asbestos without asbestosis were examined. There was no marked shifts in the reproductive function and pregnancy results of women facing asbestosis and those exposed to asbestos without asbestosis. Women facing asbestosis has infant mortality higher than other women. Parameters of potential selection (index Crow) in the studied population showed an unfavourable demographic situation in women facing asbestosis. Analysis of biodemographic data helped to suggest the possibility of genetic predisposition to asbestosis.

Abortion, Spontaneous↗

PubMed1992

[Study of interlocus interactions using a series of gene markers in samples from groups with different health status].

Interloci equilibrium between pairs of gene markers in the samples of different health rate in the population of Buryats of Chitinskaya Province was tested. The following methods were used: calculation of interloci correlation coefficients, chi 2-testing of the hypothesis of interloci equilibrium and the modification of principal components analysis on the basis of the matrix of Pearson's coefficients of contingency. In the groups of "extreme" health rate the tendency to increase in interloci disequilibrium was discovered. The reason for this effect is the increase in some phenotype combination frequencies that can be considered as markers of non-specific individual resistance in the environmental condition of the populations studied.

Genetic Markers↗

PubMed1992

[An ecogenetic approach to studying the adaptation and human health].

Genetic markers--blood groups ABO, RH, MN; serum proteins HP, PI, TF, C3; erythrocyte enzymes ACP1, ESD, AK1, PGM1, GLO1, PGD, PGP; and the other: PTC-tasting, ear wax types and color vision, were studied in two aboriginal Buryatian populations of Baikal Lake region: in Chitinskaya and Irkutskaya Provinces. Two samples were further divided into subgroups, according to their health status: "healthy", "indefinite" and "sick" by means of special regression procedure. The "healthy" subgroup of the Chitinskaya Province population is characterized by higher frequencies of PTC-tasters: 0.871 vs. 0.757 in the "sick" part (chi 2 = 5.36, p less than 0.05); higher frequency of the phenotype PI M1M1: 0.734 in "healthy" vs. 0.547 in "sick" (chi 2 = 8.89, p less than 0.01); also, lower frequency of the PI M1M2 phenotype: 0.148 and 0.299, respectively (chi 2 = 7.49, p less than 0.01); the frequencies of the phenotype TF C2C2 are: 0.015 and 0.076 (chi 2 = 5.48, p less than 0.05). In Irkutskaya Province population differences between "healthy" and "sick" subgroups were discovered for blood group AB: "healthy" 0.046 and "sick"--0.175 (chi 2 = 11.28, p less than 0.010); for GC (1F-2)--0.214 and 0.116 (chi 2 = 4.45, p less than 0.05). Some other differences between "healthy" and "sick" in both populations are not significant. Some trends concerning heterozygosity in loci--GC, PGM, TF were discovered. The results are considered from the viewpoint of higher fitness of some genetic traits in the populations studied.

Adaptation, Physiological↗

PubMed1991

Serum protein polymorphisms in the population of south Yemen.

The Gc, Hp, and Tf polymorphisms were studied in the population of South Yemen. The gene frequencies were in agreement with those of other populations in the Middle East. There was an indication of local variations due to ethnic heterogeneity, e.g. a relatively high frequency of TfD in 1 of the 5 subpopulations studied.

Alleles↗

PubMed1991

Transferrin types in different ethnic groups of the USSR and Mongolia.

Transferrin (TF) subtypes were studied in 7 different populations from the Soviet Union (Buryats, Russians, Koreans, Kirghizes and Pamirians) and in 3 different populations from Mongolia. The frequency of the C2 gene varied between 10.4% in Pamirians and 27.4% in Koreans and was generally higher in populations of Mongoloid origin. The frequency of the C3 gene was found to be very low (nonpolymorphic) in the Mongoloid groups, but it was also low (1.5%) in Russians. Rare B and D variants were found in 7 populations. The highest D frequencies were found in the Mongoloid populations.

Gene Frequency↗

PubMed1991

[An attempt to locate the gene for congenital cataracts using linkage analysis].

Analysis of linkage between the gene of autosomal dominant congenital cataract and 10 polymorphic loci localized in 1, 2, 3, 4, 6, 13, 16 chromosomes was performed. Some loci were only informative for this purpose: Mucin located in 1q21, NH24 located in the 2-nd chromosome and Pi located in 1q21 32.17. No linkage was observed for the cataract gene and the loci located in chromosomes 1 and 2. The maximum estimate of likelihood is approx. 0.2 for the cataract gene and the Pi locus located in 14q32.1, though the value of the maximal lod score was only, 0.732.

Cataract↗

PubMed1991

[Genetic aspects of vitamin D-deficient rickets: genetic markers of blood].

Polymorphism of the AB0 blood groups, haptoglobin Hp, vitamin-D-binding protein (Gc), transferrin (Tf), alpha 1-antitrypsin (alpha 1-AT) and serum alkaline phosphatase (Pp) was studied in a group of children suffering from rickets (VDDR) and in a adequate control group of healthy individuals of the same sex-age composition. Considerable differences were revealed between the VDDR patients and healthy individuals in frequencies of the PIM1 and PIM2 factors on the alpha 1-AT system, r and p of the AB0 system as well as the Hp. Increase in a portion of one of the homozygotes for the Hp and for the alpha 1-AT system took place at the expense of other homozygote proportion (the latter being decreased). Heterozygotes frequencies remained intact in both compared groups. Atypical combination of phenotypes and gene frequencies was observed in a group of patients in the alpha 1-AT and AB0 systems as compared with usual distribution in European population. Higher frequencies of rare alleles of the loci under study were observed in the VDDR patients, which is partially reflected in increase in heterozygosity level in total within a cogort of patients analysed. Combination of the Hp 1-1 (Hp)--A(AB0)--M2M2 (alpha 1-AT) factors should be considered as unfavourable in rickets prognosis.

ABO Blood-Group System↗

PubMed1991

[Genetic studies of phosphoglucomutase-1 (PGM1) subtypes: population aspects].

Distribution of the subtypes and gene frequencies of phosphoglucomutase-1 among some populations of Buryats, Kirghizes of the Pamir and Russians of Moscow district was analysed. The frequencies of PGM1 genes vary in Buryats being PGM1+(1) 0.647-0.743, PGM1-(1)-0.100-0.132, PGM2+(1)-0.122-0.199 and PGM2-(1)-0.007-0.037. Following frequencies of PGM1 genes were established for Kirghizes: PGM1+(1) = 0.614, PGM1-(1) = 0.114, PGM2+(1) = 0.217 and PGM2-(1) = 0.054; in Russian populations the frequencies were: PGM1+(1) = 0.578, PGM1-(1) = 0.110, PGM2+(1) = 0.253 and PGM2-(1) = 0.059. Peculiarities of PGM1 polymorphism in the USSR and all over the world were analysed. Parallel biodemographic investigations in Buryat population demonstrated differences in intensities of selection, related to concrete PGM genotypes.

Genetics, Population↗

PubMed1991

[Genetic polymorphism of the erythrocytic enzymes in the Buryat populations].

Polymorphism of seven erythrocytic enzymes PGM1, ESD, CLO1, PGD and PGP were studied in five samples of Buryats. The main investment into differentiation between populations has been made by the following systems: CLO1, PGD and PGM1. Analysis of genetic distances between populations demonstrated that there was some parallelism among the genetic and anthropological differentiation in the Buryat populations. The groups of the Agingsky county (the area to the east from the Baikal Lake) have probably the largest proportion of the Caucasian genes as compared to other populations studied. One of the characteristics of the Buryats, especially for the population to the east from the Baikal Lake, is high frequency of the PGD allele. The rate of the genetic variability on the intra-population level is higher than the difference between populations. This means that the divergence between the Buryats populations is not very strong. Consideration of the genetic variability on the intra-population level seems to be more perspective for ecogenetic estimation of the adaptive genetic processes than analysis of the differences between populations studied.

Erythrocytes↗

PubMed1991

[Distribution of ABO, MN, Rh blood groups and Hp, Tr, Gc and C3 serum factors in the Buryat population].

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.

ABO Blood-Group System↗

PubMed1990

[Ecogenetic cause of polymorphism of transferrin (Tf) in various sex and age groups of Russians and Buryats].

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.

Adult↗

PubMed1990

[Hereditary polymorphism of glutathione-S-transferase in the human liver in normal conditions and in alcoholic hepatitis].

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.

Glutathione Transferase↗

PubMed1990

[Distribution of C subtypes and other Tf variants in populations of the USSR].

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.

Alleles↗

PubMed1990

[Subtypes of serum group specific component (Gc) in normal conditions and in pathology].

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.

Alleles↗

PubMed1989

[Polymorphism of alpha1-antitrypsin in Pamir populations. Reproductive compensation--possible mechanism for maintaining genetic diversity gor PI genes in human populations].

The distribution of the phenotype and gene frequencies of alpha 1-antitrypsin among Pamir's aborigines localized at high altitudes was studied. The Kirghizes of Murgab studied include mainly the mongoloid component in their composition. Populations of the Khuf river valley in West Pamir anthropologically belong to South caucasoids. The following frequencies of PI genes have been registered in Kirghizes (N = 102): M1 = 0.6961, M2 = 0.2108, M3 = 0.0539, Z = 0.0245, I = 0.0049, S = 0.0049, N = 0.0049; in the Khuf population (N = 122): M1 = 0.7910, M2 = 0.0943, M3 = 0.0984, Z = 0.0082, I = 0.0041, S = 0.0041; in the Pastkhuff population (N = 38): M1 = 0.7237, M2 = 0.1579, M3 = 0.1053, Z = 0.0132. A parallele biodemographic investigation in the Murgab population showed that couples, with one of the partners carrying the rare variant of PI demonstrated statistically significant increase in successful outcomes of pregnancies. The same cohort has displayed lower infant mortality rates, the absence of miscarried fetus and stillborn babies. Our results point to the possible existence of a mechanism of reproductive compensation serving to uphold the genetic diversity of PI genes.

Asian People↗

PubMed1989

[Genetic geography of inherited dimorphism of ear wax by its consistency].

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.

Cerumen↗