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Biomedical subjects

V A Spitsyn

Publications and source records attributed to V A Spitsyn.

At least 55 records · Page 3Linked to original sources
PubMed1997

[A simple and rapid method for determining a 32-bp deletion in the gene for the chemokine receptor CCR5].

In recent studies, a 32-bp deletion in the coding region of the chemokine receptor gene CCP5 was reported, which completely blocked penetration of the HIV-I virus into lymphocytes and macrophages. We developed a simple and rapid method for determining this deletion. The use of this method can greatly accelerate the evaluation of the frequency of the deletion allele CCP5 delta 32 in various populations and the determination of genotypes for the locus CCP5 in HIV-infected individuals. CCP5 was genotyped in three populations from Eastern Europe (Russians, Belarussians, and Bashkirs). Frequencies of the allele CCP5 delta 32 in these populations did not significantly differ from those in white Americans and Europeans from the CEPH sample. Even in Bashkiria, with its clear Turkic contribution, the frequency of CCP5 delta 32 reaches 0.10.

Alleles↗
PubMed1996

[Polymorphism of placental alkaline phosphatase on the level of DNA and protein in the Mordovian population].

Data on DNA and enzyme polymorphisms of human placental alkaline phosphatase (PLAP) in Mordvinian populations are presented. Restriction fragment length polymorphism (RFLP) was detected after the digestion of DNA samples with Rsa I and Pst I endounucleases. The frequencies of the second (2) allele for PLAP Pst I and Rsa I were 0.53 and 0.192, respectively. Comparative data suggest that there are no population differences between Mordvinians and Scandinavian ethnic groups. In Mordvinians gene frequencies measured at the level of gene products were PLAP*1(S) = 0.681, PLAP*2(F) = 0.244, PLAP*3(I) = 0.069, and PLAP*18(D) = 0.006, indicating the similarity of the corresponding values in Scandinavians. The observed RFLP and "protein" genotype frequencies were in good agreement with that expected according to the Hardy-Weinberg equation. In the Mordvinian population, as in those, surveyed previously, a strong linkage disequilibrium between Pst I and Rsa I PLAP alleles was observed.

Alkaline Phosphatase↗
PubMed1996

[Population genetic characteristics of highland and meadow Mari. Genetic markers].

ABO blood groups; serum proteins, including transferring (Tf), group-specific component (Gc), proteinase inhibitor (PI), and haptoglobin (Hp); and erythrocytic enzymes, including acid phosphatase (ACP1) and phosphoglucomutase (PGM1), were studied in two ethnic groups from the Marii EI Republic-Highland and Meadow Mari. The size of populations examined were 111 and 140 individuals, respectively. Data on frequency distribution of phenotypes and genes are reported, and the two populations are compared with respect to allelic frequency. To assess the subdivision of the population, GST was used. Its value was 0.0041.

Alleles↗
PubMed1996

[Possible connection between the level of heterozygosity of biochemical gene markers in patients with lung diseases].

The comparative heterozygosity level was estimated in patients suffering from squamous epithelial lung cancer (SELC) and in patients with chronic pneumonia with bronchiectases. To estimate heterozygosity, seven loci, reflecting normal diversity in human populations, were used (HP, TF, GC, PI, GL01, ACP1, PGM1). SELC patients with an uncomplicated postoperative period were distinguished by an increase in the level of observed heterozygosity (Hzero = 0.3916) in comparison with the theoretically expected value (H(e) = 0.4361). Patients having chronic pneumonia with bronchiectases with a complicated postoperative period were distinguished by an increase in the observed and expected level of heterozygosity (Hzero = 0.3737, H(e) = 0.3837) in comparison with that in the patient cohort with an uncomplicated postoperative period. The Wright's fixation index had a high value in the SELC cohort with an uncomplicated postoperative period (F = 0.1073) and a low value in patients with complicated cases (0.0048), witnessing the polar divergence of those patients from the total group of patients (0.0598) and the control (0.0388). The D criterion, reflecting deviation from the maximum heterozygosity level, distinguished the SELC patient cohort with a complicated postoperative period from patients with uncomplicated cases by the HP, GC, and ACP1 loci. The D criterion distinguished the SELC patients from the healthy control groups by the PGM1 locus.

Adult↗
PubMed1996

[Meadow Maris: genes, surnames and migrations].

The matrices of genetic distances, calculated from the frequencies of surnames and the ABO, TF, GC, PI, HP, ACP1, and PGM1 genes, were compared with one another and with the migration matrix. The correlation coefficient between the "gene" and "surname" matrices was 0.71 +/- 0.35; other correlation coefficients were non-significant.

Adult↗
PubMed1996

[Role pf genetic and other biomarkers in the prognostication of postoperative course in patients with lung cancer].

Relationships between genetic polymorphisms (ABO, RH, HP, TF, GC, Pi, ACP1, PGM1, GLO1, PTC) and some clinical, biochemical, and functional parameters were studied in patients with epidermoid carcinoma of the lung who were divided into 2 groups: those with uncomplicated and complicated postoperative courses of the disease. They were found to be different in the two groups. The values of ESR, albumin, lymphocytes, vital capacity, and RQ are the most distinctive signs that differentiate the patient groups. A high correlation was found between the signs in patients with an uncomplicated postoperative course. A less correlation between the signs, as a higher intergroup variability in the majority of the signs under study suggests that there is a significantly impaired physiological homeostasis in the group of patients with a complicated course. Comparing the mean values and dispersions shows their equal direction in the two groups of patients irrespective of their genetic polymorphism. The GC system is associated with profound changes of the studied signs in the group of patients with an uncomplicated course and GC*1F carriage should be regarded as a poor factor in the prognosis of the disease.

Adult↗
PubMed1996

[Genetic aspects of endometriosis: features of the distribution of polymorphic gene frequencies].

In a group of patients with endometriosis and in a control group of healthy women, the polymorphism of the following systems were studied: ABO and RH blood-group systems; serum proteins haptoglobin (HP), transferrin (TF), vitamin D-transporting protein (GC), protease inhibitor (PI), and the third component of the complement (C3); serum enzymes-amylase of the loci 1 and 2 (AMY1 and AMY2), pseudocholinesterase (E2), and alkaline phosphatase (PP); erythrocytic enzymes-acid phosphatase (ACP1), phosphoglucomutase (PGM1), superoxide dismutase (SOD-A), esterase D (ESD), and glyoxalase (GLO1). Statistically significant differences between the groups compared were established for five genetic systems: ABO, E2, C3, TF, and PGM1. Among patient with endometriosis, the rare alleles of the locus ESD-ESD5 and ESD7-were found, along with ESD 5-5 homozygotes. Several genetic loci can be involved in the pathogenesis of endometriosis; their products can be specifically realized due to peculiarities of biochemical reactions in the organisms of people predisposed to this pathology.

ABO Blood-Group System↗
PubMed1995

[Genetic position of Mordvinians among other Finno-Ugrian peoples].

Two different tribes of Mordvinians, Erzia and Moksha, were studied with respect to 13 different genetic marker systems. The Erzia and Moksha were shown to be fairly homogeneous; a significant gene frequency difference was found only in the MN blood group system. Estimation of the genetic distances revealed that Mordvinians showed the closest relationship to the Maris and to populations of the western Finno-Ugrian linguistic group such as Finns, Estonians and Karelians.

Blood Group Antigens↗
PubMed1994

[New locus of cholinesterase (E3) expressed in human milk].

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.

Cholinesterases↗
PubMed1994

[Effects of maximal possible potential selection in the world population. New data on selection structure in the CIS nations].

New information on maximal possible potential selection and its component values in some ethno-territorial groups in CIS was presented. The heterogeneity observed in the Crow's index and its components can be explained as a result of the differences in the social economic status of the groups studied and the influence of climate geographical factors. The data gathered during the biodemographical study of 67 populations allowed to detect regularities of the effects of selective factors in world population: non-random and discrete nature of considered populations distribution in the coordinate space of selection components associated with differential mortality (I) and differential fertility (I) was shown. Differentiation of three big aggregations of populations was shown: urbanized contemporary communities with low I values; small endogamous populations, mostly of hunters and gatherers; small towns' populations and rural populations with balanced reproductive indices. Microevolutionary changes take place in the latter conglomerate even now, statistically subdividing it into two clusters. A proposition was made about the existence of "ecological optimum" for populations intermediate between advanced industrial communities and communities of hunters and gatherers, corresponding to the population size and the nature and rate of population reproduction.

Commonwealth of Independent States↗
PubMed1993

Population genetics and structure of Buryats from the Lake Baikal Region of Siberia.

Genetic polymorphisms of blood groups, serum proteins, red cell enzymes, PTC tasting, and cerumen types are reported for five Mongoloid populations of Buryats from the Lake Baikal region of Siberia (Russia). These groups are characterized by relatively high frequencies of alleles ABO*B, RH*D, cerumen D, GC*1F, ACP1*B, ESD*2, and PGD*C. Significant genetic heterogeneity between populations was demonstrated for the loci RH, MN, cerumen, PGD, ABO, GC, GLO, TF, and PGM1. Genetic distance analyses using five loci revealed a lower level of genetic microdifferentiation within the Buryat populations compared with other native Siberian groups. The distribution of gene markers in Buryats is similar to that found in neighboring Central Asian groups, such as the Yakuts and the Mongols. Intrapopulational analyses of the five Buryat subdivisions, based on R matrix and rii, indicate that one of the subdivisions is reproductively more isolated than the others and that two of the communities have received considerable gene flow. A nonlinear relationship was demonstrated between geographic and genetic distances of Buryat population subdivisions.

Adolescent↗
PubMed1993

[The association of genetic and functional variability of alpha 1-antitrypsin in asbestosis].

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.

Asbestosis↗
PubMed1993

[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].

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.

Adolescent↗
PubMed1993

[Ecogenetic aspects of the study of phenotypes and levels of beta-aminoisobutyric acid excretion].

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.

Aminoisobutyric Acids↗
PubMed1993

[Genetic polymorphism of haptoglobin and quantitative changes in its levels during exposure to asbestos].

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.

Asbestos↗
PubMed1993

[Feasibility of establishing genetic homeostasis in human populations using a complex of genetic markers].

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.

Adaptation, Physiological↗
PubMed1993

[Further analysis of location of the gene for inborn dominant Nochurli cataract].

The study of location of the gene for inborn dominant nokhur kataracta is going on. No linkage of this gene with the locus of alpha-globin gene (16p13.3) and the locus (7q36-qter) was revealed. Additional evidence was obtained for a possible location of the gene for inborn dominant nokhur kataracta on the 14 chromosome. The maximal lod value equaled to 1.089 at theta = 0.20 in the analysis of kataracta genes and alpha-1-antitrypsin (14q32.1), and 0.846 at theta = 0.30 for the kataracta gene and D14S13 (14q32.1-q32.32). For the alpha-1-antitrypsin gene the maximal lod value was 2.24 at theta = 0.05.

Cataract↗