Biomedical subjects

V A Spitsyn

Publications and source records attributed to V A Spitsyn.

At least 19 recordsLinked to original sources

PubMed2001

[A new pentanucleotide STR-marker, located in the intron of the ING1 tumor suppressor gene and its allelic polymorphism].

DNA samples of unrelated subjects from the Volga-Ural region of Russia were examined to study allele polymorphism of the pentanucleotide repeat (TTGTG)8 localized to an intron of the tumor suppressor gene ING1. STR marker was registered in the EMBL database with the accession number AJ277387. In a sample of 119 individuals, three pentanucleotide alleles consisting of seven, eight, and nine repeated monomers were revealed. The allele frequencies were 0.24, 0.74, and 0.02, respectively. Heterozygosity was 0.45. On the basis of these data, the repeat can be regarded as a polymorphic STR marker for the ING1 gene and used in population and clinical studies.

Alleles↗

PubMed2000

[Genetic polymorphism and occupational diseases: results of 10-years studies].

The paper presents the results of investigations made at the Laboratory of Environmental Genetics, Medical Genetic Research Center, Russian Academy of Medical Sciences, to search for the markers of genetic predisposition or resistance to a number of occupational diseases (asbestosis, occupational fluorosis, silicosis, dust-induced bronchitis, bronchial asthma).

Diagnosis, Differential↗

PubMed2000

[Genetic factors predisposing to occupational fluorosis].

Having analyzed a total amount of all systems, the authors specified the most important genetic markers predisposing to chronic flour intoxication: the patients demonstrated higher frequency of ACP1*A and PGM1*1-alleles, phenotypes of acid phosphatase AA, of phosphoglucomutase 1+1+ and 2+2+, of dry cerumen consistence--d. The results could help to improve criteria of occupational selection and to specify practical recommendations on prophylaxis of chronic fluor intoxication.

Adult↗

PubMed2000

[Normal polymorphism of the (CTG)n repeat in the myotonin protein kinase (DM) gene on chromosome 19q13.3 in Western European populations].

Polymorphism of a highly polymorphic CTG repeat in the 3'-untranslated region of the myotonin protein kinase gene was analyzed in healthy people from several Eastern European populations (Russians, Moldovans, Belarussians, Komis, Chuvashes, Udmurts, Bashkirs, Tatars, Maris, and Mordovians). In total, 26 alleles of the CTG repeat were found, the repeat number ranging from 5 to 33 (alleles with six and seven repeats were not detected). The heterozygosity of individual populations varied from 61 to 91%. In the total sample combining all populations, the observed and expected heterozygosities did not differ (fixation index -0.0022) suggesting selective neutrality of the normal polymorphism of the CTG repeat in the myotonin protein kinase gene.

Alleles↗

PubMed1999

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.

Alleles↗

PubMed1999

Genetic structure of a Sakha population from Siberia and ethnic affinities.

The red cell enzymes ACP1, ESD, GLO1, PGM1 and RDS and the serum proteins GC, HP, PI, and TF were determined for samples of 150 and 144 Sakha, respectively. The Sakha, a Turkic-speaking population, inhabit the Sakha-Yakutia Republic in northeastern Siberia. High gene frequencies were found for ACP1*A, GLO1*1 and GC*1F, whereas no P1*S or P1*Z alleles were found. In addition, 1 heterozygous phenotype with ACP1*C and 2 heterozygous phenotypes with ESD*7 were found. The genetic distance measures show close affinities of the Sakha population to Buryats (especially Western Buryats), Mongols, and Evenks, whereas the genetic distance to Turkic-speaking Altay and Tuvan populations is great.

Blood Proteins↗

PubMed1999

["Synthetic" maps of the Mari gene pool (from immunobiochemical polymorphism data)].

Models of geographic distribution of 33 alleles of 10 loci (AB0, TF, GC, PI, HP, AHS, F13B, ACP1, PGM1, GLO1) in the indigenous population of five raions (districts) of Marii El Republic were analyzed by cartographic statistical methods. Based on 33 maps for individual alleles, synthetic maps were constructed; they reflected the general characteristics of the spatial variability of the Mari gene pool. A map of reliability of the synthetic maps was also obtained. This study was the first to use estimates of the reliability of the gene-geographic prognosis for constructing and interpreting the maps of principal components. Synthetic maps of principal components reveal the geography of the main factors that determine the genetic diversity of the Maris. In the map of the first principal component (accounting for 25.5% of the total variation of the Mari gene pool), isolines clearly ran in the latitudinal direction; i.e., the variability exhibited a north-south gradient. The direction of changes reflects the characteristic features of the microevolution of the Mari gene pool, because it differs from the direction of the principal components of in the total Ural gene pool. The second principal component (24.3% of variation) also exhibited a latitudinal gradient in the western part of Marii El. In the eastern part of the republic, isolines drastically change their direction and display a marked west-east gradient. This longitudinal orientation of principal components is characteristic of the Maris in the synthetic maps of the Ural region. Contributions of individual genes in the variation of principal components were analyzed. In proceeding from the geographic space to the space of principal components, it was found that Highland Maris are separated from Meadow Maris not only geographically, but also genetically.

Gene Pool↗

PubMed1999

[Characteristics of the gene pool of the Gagauz population of Moldova].

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.

ABO Blood-Group System↗

PubMed1998

[Genogenography of the aboriginal population of Marii El (from data on immunobiochemical polymorphism)].

The geographic distribution of the frequencies of genes related to the immunological and biochemical polymorphism was studied in the Maris, who are the indigenous population of the Marii El Republic. Data on the frequencies of 33 alleles of 10 loci (ABO, TF, GC, PI, HP, AHS, F13B, ACP1, PGM1, and GLO1) in five raions (districts) of Marii El were obtained. Computer interpolation maps were constructed for all alleles. The maps allows to predict the distribution of the alleles throughout Marii El. A map of the reliability of the cartographic prediction was drawn. For the first time, the reliability of predicted gene frequencies were taken into account in constructing and interpreting the maps of gene frequencies. For the entire set of the studied genes, parameters of heterozygosity (HS) and gene diversity (GST) were estimated. Cartographic correlation analysis was performed to reveal the relationship between gene frequencies and geographic coordinates. It was found that 42% of the studied genes predominantly correlated with latitude and 9% with longitude. It was assumed that the genetic structure of Mari populations had been mainly determined by latitude-related factors. A map of Nei's genetic distances between the overall Mari gene pool and the local populations revealed a central core, which was close to the "average Mari" gene pool, and a periphery, which was genetically distant from it. Suggestions on the microevolution of the Mari gene pool were advanced. Maps of the genes with the most characteristic genetic relief (ABO*B, ACP*A, TF*D, GC*1F, PI*M2, HP*1F, and F13B*3) are shown. These maps exhibit a high correlation with the maps of principal components.

ABO Blood-Group System↗

PubMed1998

Climate-dependent genetic variation of alpha-2HS-glycoprotein.

We studied the possible effects of climatic factors on the world distribution of alleles determining alpha 2-HS-glycoprotein (AHSG) phenotypes in human populations. New data on AHSG polymorphism in certain ethnic groups of Russia are presented. All available data on the distribution of AHSG gene frequencies in the world (number of populations n = 51) were used to analyze possible correlations between AHSG*2 allele frequencies and seven climatic-geographic parameters. A strong positive correlation was found between AHSG*2 allele frequency and geographic latitude of territories inhabited by the study populations (r = 0.814). The dependence of the AHSG*2 allele distribution in the world on the intensity of ultraviolet radiation (400-315 nm) was estimated at r = -0.826. Such climatic characteristics as the total amount of insolation and the average annual temperature proved to make equal contributions to variation in AHSG*2 allele frequency (r = -0.683 and -0.658, respectively). A computer cartographic model of the AHSG*2 allele distribution in the Old World populations of the Northern Hemisphere was constructed.

Alleles↗

PubMed1998

[Genetic aspects of silicosis: polymorphic gene distribution frequency].

Electrophoresis and isoelectrofocusing were used to study polymorphism by 7 genetic loci: haptoglobin (Hp), proteinase inhibitor (PI), transferrin (TF), Vitamin D-transporting protein (GC), complement 3 (C3), phosphoglucomutase 1 (PGM1) and glyoxalase (GLO1) in 60 patients with silicosis and in 70 apparently healthy workers of the Dynamo plant. Comparison of the study groups by significant differences in the summary of the genetic information obtained suggests that 5 (Hp, C3, TF, PI, PGM1) of the 7 studied systems showed the hereditary features of silicosis. The gene carriers Hp*2, C3*F, PGM1*2-, PI*M1, TF*C1, TF*C16 TF*D, GC*R due to peculiar biochemical processes appear to have less adaptive potentialities and a greater likelihood of the disease on exposure to industrial factors.

Adult↗

PubMed1997

Mitochondrial D-loop 3' (CA)n repeat polymorphism: optimization of analysis and population data.

We report a dinucleotide repeat polymorphism in the 3' area of the mitochondrial control region. The fragments obtained using a new primer set could be reliably separated by polyacrylamide gel electrophoresis (PAGE) using nondenaturing gels. A total of five alleles [(CA)3 to (CA)7] were detected on silver-stained gels. The 90 bp product corresponds to allele 5. Samples from one African and three European populations were characterized. Significant differences could be demonstrated as to the incidence of single alleles and allele distributions in different populations. These differences were found between the three European and one African Bantu population. For specific forensic questions the mitochondrial CA repeat is well suited. Gene diversities in populations of Germany, Hungary, the Russian Federation and Cameroon were 0.36, 0.40, 0.34, 0.52, respectively.

Africa↗

PubMed1997

[Highly polymorphic regions of the genes for apolipoprotein B and angiotensin-converting enzyme in the Udmurt population].

The hypervariable regions of the 3'-end of the apolipoprotein B gene (APOB3'-VNTR) and angiotensin converting enzyme gene (ACE), which had 10-15 alleles each, were studied in a sample from the Udmurt population by means of polymerase chain reaction (PCR). From the literature data, the genetic position of Udmurts among 12 groups of Caucasoid, Mongoloid, and Negroid populations was determined. The data obtained by the method of principal components indicated that Udmurts held an isolated position in the northern branch of the Caucasoid race.

Alleles↗

PubMed1997

[Dependence of the concentration of maternal serum markers on the haptoglobin gene].

This paper is the first in a series devoted to the investigation of the possible effect of maternal genotype on the levels of fetal alpha-fetoprotein (AFP) and human chorionic gonadotrophin (HCG) entering maternal blood. We studied the possible association between the maternal haptoglobin system and levels of maternal AFP and HCG, which are markers of fetal pathology. Haptoglobin types were determined in groups of pregnant women with different levels of serum markers. Distribution of haptoglobin types differed from the theoretically expected in one out of five groups tested. In the group with low AFP level, a significant decrease in frequency of the Hp*2 allele was found. A statistically significant decrease of the mean haptoglobin concentration in the group with low levels of AFP and elevated levels of HCG was observed. A reduction in serum haptoglobin concentration was shown to be accompanied by a decrease of serum iron concentration. The possible mechanism underlying the influence of maternal genotype on the levels of AFP and HCG in maternal blood are discussed.

Biomarkers↗

PubMed1997

[Influence of environmental and genetic factors on levels of testosterone, estradiol and somatotropic hormones in mountaineers of the Pamir].

A role of genetic and environmental factors in variabilities of the levels of testosterone, estradiol, and somatotropic hormones (STH) in mountaineers of the Pamirs and Kirghizes was examined in relation to the place of residence above sea level. Testosterone and estradiol levels reduced in males and females with the altitude of their permanent residence in the studied populations. The variability in testosterone levels diminished with the altitude of locality. Blood O group (ABO system) residents of plains and low-altitude mountain regions had lower concentrations of estradiol and testosterone. With increased environmental extremeness (at 3000 and 3640 m), there was no association between steroid hormones and ABO systems. Higher variabilities in estradiol concentrations were noted in The Pamirs women. The united group of The Pamirs women showed a statistically significant increase of growth hormones in individuals with TFC1-C2 phenotype. TFC1-C2 heterozygotes are largely characterized by increased levels of STH as compared to its concentrations in TFC1-C1 homozygotes.

Altitude↗

PubMed1997

[Chorionic gonadotropin concentration dependence on the phenotype of the Rhesus system].

The phenotypes of the rhesus system in pregnant females were studied for impact on maternal blood chorionic gonadotropin (CGT) levels in the second trimester. The polymorphism of the rhesus system was determined in the groups of pregnant females (n = 1591) having different blood CGT levels. There was a significant increase in the frequency of the Rh(d) phenotype (p < 0.01) among the pregnant women with lower chorionic gonadotropin levels. There was also an evident bimodality in the distribution among RH(d) pregnant females.

Chorionic Gonadotropin↗

PubMed1997

[Effects of genetic polymorphism of phosphoglucomutase identifiable in human milk (PGM4 locus) on the somatotype of the newborn and reproductive function of women].

The polyacrylamide gel isoelectrofocusing technique was used to examine structural variations of the human milk-expressed enzyme PGM4-locus phosphoglucomutase. Six phenotypes controlled by four alleles: PGM4*1, PGM4*2, PGM4*3, PGM4*4 with frequencies of 0.261, 0.664, 0.047, 0.028, respectively, were identified in 180 milk samples taken from Moscow Russian women in labour. The empirical distribution of the PGM4 phenotypes is in a moderate agreement with the expected one with chi 2 = 9.622; 6 d.f. (p > 0.05). Its phenotypic belonging to PGM4 1-2 and PGM4 2-2 was examined for its influence on female reproductive function and neonatal somatic type. The PGM4 1-2 phenotype was positively associated with miscarriages whereas PGM4 2-2 negatively correlated with this abnormality. If the mother had PGM4 2-2, there might be increased body dimensions (body length and mass, head and chest circumferences) in male neonates. On the contrary, PGM4 1-2 was negatively correlated with body length and mass in the newborns of both sexes. For female neonates, there was a highly significant association only with the presence of PGM4 2-2 in their mothers, namely: its presence was positively correlated with all body dimensions.

Chromosome Mapping↗

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↗