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Biomedical subjects

V P Puzyrev

Publications and source records attributed to V P Puzyrev.

At least 19 recordsLinked to original sources
PubMed2006

[Frequencies of C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase gene at the early stage of human individual development].

In most cases, the cause of embryo and fetus death remains unclear although the multifactorial causes are suspected. The polymorphic C677T and A1298C variants of the MTHFR gene are associated with an increase in the level of homocysteine, which is risk factor of pregnancy loss. The subject of this study is analysis of genotypes and haplotypes of C677T and A1298C polymorphic variants of MTHFR genes in the groups of spontaneous abortions with the normal karyotype and newborns in the Tomsk population. Between these groups, no statistically significant differences were determined in the allele, genotype, and haplotype distributions of C677T and A1298C polymorphisms of the MTHFR gene. The haplotype frequencies of C677T and A1298C polymorphic variants of MTHFR gene in the Russian populations, which proved to be similar to those in most European populations, are presented.

Abortion, Spontaneous↗
PubMed2006

[The 1188 A/C ILI2B gene polymorphism in patients with multiple sclerosis and in healthy subjects of Tomsk region].

Multiple sclerosis (MS) is a multifactorial and polygenic disorder of the central nervous system, its development being under strong influence of T-helpers type I which produce anti-inflammation cytokines. Interleukin 12 (IL12) plays a key role in such polarization of the immune response. Genotyping for polymorphism of the IL12B gene in the 3'-untranslated region, coding for the p40(IL12B) subunit, has been carried out in 62 patients with MS and 129 healthy controls. The C/C genotype frequency was twice higher in patients as compared to the controls (33.9% and 17.4%, respectively). The allele C in patients was associated with shorter duration of the first remission (p = 0.028) which was 1.79 +/- 0.28 in those with the C allele and 3.27 +/- 0.68 in other patients. Mean rate of relapses per year was also higher (p = 0.079) in patients with the C allele (0.96 +/- 0.11) comparing with the A allele (0.72 +/- 0.11). During the treatment with copaxone, a trend towards increasing of the time before the first relapse was observed in patients with the C allele. An analysis of immunologic indices revealed that they changed in opposite directions depending on the gene variant. The C-allele is suggested to have relation both to liability to MS and to its pathogenesis.

Adjuvants, Immunologic↗
PubMed2005

[Genetic and demographic characteristics of rural populations of Altaĭ republic: sex-age composition, surname and tribal structure].

The sex, age, tribal, and surname compositions of the populations of three villages of Altai Republic, Kulada (Ongudaisk raion), Beshpeltir (Chemal raion), and Kurmach-Baigol (Turochak raion) have been studied. Altaian populations are characterized by a high proportion of persons under 20 years of age (35.3-46.1%); however, there is a tendency towards a narrow base of the sex-age pyramid. The sex ratios in the total populations and in individual age groups are unfavorable. The rural populations studied differ in the spectrum and pattern of surname accumulation. The Kurmach-Baigol population (which consists of Northern Altaians) considerably differs from the Beshpeltir and Kulada populations (which are mostly Southern Altaian) with respect to the calculated parameters characterizing the population structure (random isonymy, migration index, the parameter of tribe diversity, entropy, and the redundancy of surname distribution). Isonymy coefficients of relationship between individual populations have been calculated from the data on tribes (surnames). These coefficients for pairs of populations are the following: for the Beshpeltir and Kulada populations, 0.3035938 (0.0000443 and 0.0000378 for the Altaian and total populations, respectively); for the Beshpeltir and Kurmach-Baigol populations, 0.0026788 (0.0000172 and 0.0000121 for the Altaian and total populations, respectively); and for the Kulada and Kurmach-Baigol populations, 0.0054811 (no common surnames have been found).

Adolescent↗
PubMed2005

[Genetic and demographic characteristics of rural populations of Altaĭ republic: dynamics of the marriage structure].

The dynamics of population marriage structure in the period from 1951 to 1997 has been studied in three villages of Altai Republic: Kulada (Ongudaisk raion), Beshpeltir (Chemal raion), and Kurmach-Baigol (Turochak raion). These populations have been found to differ from one another in the intensity and direction of migration, as well a its temporal pattern with respect to the birthplaces and ethnicity of persons contracting marriages. Periods of active incorporation of non-Altaian (mostly Slavic) ethnic components into the gene pools of the Beshpeltir and Kurmach-Baigol populations have been detected. The geographic distributions of the birthplaces of men and women contracting marriages are different. Therefore, migration has different effects on the genetic diversity of the Y-chromosomal and mitochondrial-DNA pools. No isonymic marriages have been found in the Altaian populations studied; however, an increase in the random component of inbreeding has been observed.

Consanguinity↗
PubMed2005

[Frequencies of Y chromosome binary haplogroups in Belarussians].

The compositions and frequencies of Y-chromosome haplogroups identified by genotyping 23 biallelic loci of its nonrecombining region (YAP, 92R7, DYF155S2, 12f2, Tat, M9, M17, M25, M89, M124, M130, M170, M172, M174, M173, M178, M201, M207, M242, M269, P21, P25, and P37) have been determined in a sample of 68 Belarussians. Eleven haplogroups have been found in the Belarussian gene pool (E, F*, G, I, I1b, J2, N3a*, Q*, R1*, R1a1, and R1b3). Haplogroup R1a1 is the most frequent; it includes 46% of all Y chromosomes in this sample. The frequencies of haplogroups I1b and I are 17.6 and 7.3%, respectively. Haplogroup N3a* is the next in frequency. The frequencies of haplogroups E, J2, and R1b3 are 4.4% each; that of R1* is 3%; and those of F*, G, and Q* are 1.5% each.

Chromosomes, Human, Y↗
PubMed2004

[Structure of the gene pool of eastern Ukrainians from Y-chromosome haplogroups].

Y chromosomes from representative sample of Eastern Ukrainians (94 individuals) were analyzed for composition and frequencies of haplogroups, defined by 11 biallelic loci located in non-recombining part of the chromosome (SRY1532, YAP, 92R7, DYF155S2, 12f2, Tat, M9, M17, M25, M89, and M56). In the Ukrainian gene, pool six haplogroups were revealed: E, F (including G and I), J, N3, P, and R1a1. These haplogroups were earlier detected in a study of Y-chromosome diversity on the territory of Europe as a whole. The major haplogroup in the Ukrainian gene pool, haplogroup R1a1 (earlier designated HG3), accounted for about 44% of all Y chromosomes in the sample examined. This haplogroup is thought to mark the migration patterns of the early Indo-Europeans and is associated with the distribution of the Kurgan archaeological culture. The second major haplogroup is haplogroup F (21.3%), which is a combination of the lineages differing by the time of appearance. Haplogroup P found with the frequency of 9.6%, represents the genetic contribution of the population originating from the ancient autochthonous population of Europe. Haplogroups J and E (11.7 and 4.2%, respectively) mark the migration patterns of the Middle-Eastern agriculturists during the Neolithic. The presence of the N3 lineage (9.6%) is likely explained by a contribution of the assimilated Finno-Ugric tribes. The data on the composition and frequencies of Y-chromosome haplogroups in the sample studied substantially supplement the existing picture of the male lineage distribution in the Eastern Slav population.

Base Sequence↗
PubMed2004

[Population study of frequency of methylenetetrahydrofolate reductase C677T gene polymorphism in Yakutia].

The enzyme methylenetetrahydrofolate reductase (MTHFR) catalyzes synthesis of 5'-methylenehydrofolate, which is the methyl donor for the conversion of homocysteine to methionine. According to the numerous literature data, polymorphic variant of the MTHFR-encoding gene, C677T, is associated with hyperhomocysteinemia, vascular pathologies, neural tube defects, dementia, perinatal mortality, mental disorders, long-term neurodegenerative disorders, lens displacement, arachnodactyly, and venous thromboses. The present study was focused on the analysis of the C677T polymorphism (missence mutation leading to the replacement of cytosine by thymine at position 677) of the MTHFR gene in three indigenous populations of the Republic of Sakha (Yakutia), living in the settlements of Cheriktei, Byadi, and Dyupsya. Comparison of the genotype and allele frequencies revealed no substantial differences between the three Yakut populations, as well as between Yakuts and other Mongoloid ethnic groups.

Female↗
PubMed2003

[Genetics of arterial hypertension (current research paradigms)].

Modern approaches to investigation of hypertension genetics are reviewed. These include genealogical, genetic-epidemiological, bioinformative methods, biological microchip technology. The results of genomic investigation of arterial hypertension are presented. Perspective lines in the research in the field of genetic cardiology are discussed.

Computational Biology↗
PubMed2003

[Correlation between polymorphic variants of the genes for transferrin and angiotensin-converting enzyme and antioxidant activity of blood plasma].

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.

Adult↗
PubMed2003

[MtDNA and Y-chromosome lineages in the Yakut population].

The structure of female (mtDNA) and male (Y-chromosome haplotypes) lineages in the Yakut population was examined. To determine mtDNA haplotypes, sequencing of hypervariable segment I and typing of haplotype-specific point substitutions in the other parts of the mtDNA molecule were performed. Y haplogroups were identified through typing of biallelic polymorphisms in the nonrecombining part of the chromosome. Haplotypes within haplogroups were analyzed with seven microsatellite loci. Mitochondrial gene pool of Yakuts is mainly represented by the lineages of eastern Eurasian origin (haplogroups A, B, C, D, G, and F). In Yakuts haplogroups C and D showing the total frequency of almost 80% and consisting of 12 and 10 different haplopypes, respectively, were the most frequent and diverse. The total part of the lineages of western Eurasian origin ("Caucasoid") was about 6% (4 haplotypes, haplogroups H, J, and U). Most of Y chromosomes in the Yakut population (87%) belonged to haplogroup N3 (HG16), delineated by the T-C substitution at the Tat locus. Chromosomes of haplogroup N3 displayed the presence of 19 microsatellite haplotypes, the most frequent of which encompassed 54% chromosomes of this haplogroup. Median network of haplogroup N3 in Yakuts demonstrated distinct "starlike phylogeny". Male lineages of Yakuts were shown to be closest to those of Eastern Evenks.

Asian People↗
PubMed2003

[Analysis of genetic diversity of population of Northern Eurasia from autosomal microsatellite loci].

The paper presents the results of analysis of the gene pools of several North Eurasian ethnic groups (Buryats, Evenks, Altaians, Russians, Kyrgyzes, Tuvinians, Tatars, and Ukrainians) examined using a panel of autosomal microsatellite markers (D4S397, D5S393, D7S640, D8S514, D9S161, D10S197, D11S1358, D12S364, and D13S173) mapped on different chromosomes and represented by the (CA)n dinucleotide repeats. In the group of populations examined the proportion of genetic variability at microsatellite loci explained by interpopulation differences was about 2.5%, while genetic differences between the individuals within a population accounted for 97.5% of this variability. Analysis of genetic relationships among the populations revealed substantial differences between the populations belonging to the Indo-European and Altaic linguistic families in gene diversity at microsatellite loci.

Asia↗
PubMed2003

[Genetic differentiation of residents of Central Asia from autosomal marker data].

The gene pool of five ethnic groups of the Central Asian population was characterized using nine human-specific polymorphic insertion/deletion loci (ACE, PLAT, APOA1, PV92, F13B, A25, B65, CD4, Mt-Nuc). It has been shown for the first time that at the CD4 locus, the frequency of Alu(-) is inversely related to the Mongoloid component of the population. For the Central Asian populations, the lowest and highest frequencies of the Alu deletion at locus CD4 were recorded respectively in Dungans (0.04), immigrants from China, and Tajiks (0.15). The coefficient of gene differentiation in the Central Asian populations for all the genes was 2.8%, which indicates a relatively low level of population genetic subdivision in this region. The unity of the gene pool of the Central Asian Caucasoids was shown.

Alleles↗
PubMed2003

[Relationship between polymorphism of non-coding regions of human mitochondrial genome and primary cardiac conduction disorders].

AIM: Analysis of associations between idiopathic disturbances of cardiac conduction (DCC) and polymorphism of mitochondrial genome. MATERIAL AND METHODS: A family examination was performed in 431 probands with various DCC and 1347 relatives of the first, second and third degree of kinship (the study group). All the examinees were divided into four subgroups. These included 158 probands with atrioventricular block (AVB) of various degree and their 518 relatives (subgroup 1); 50 probands with a complete right bundle-branch block (BBB) and their 161 relatives (subgroup 2); 108 probands with a complete left BBB and left anterior branch of the His bundle and their 152 relatives (subgroup 3); 115 probands with sick sinus syndrome (SSS) and their 327 relatives (subgroup 4). The control group consisted of 104 probands without clinical ECG manifestations of cardiac diseases and their 321 relatives. All the examinees have undergone ECG, atropin test, echocardioscopy, electrophysiological examination of the heart and mitochondrial DNA (mDNA). RESULTS: Comparison of the incidence of mDNA D-loop restriction sites in the group of patients with idiopathic DCC and controls has found higher frequency of the Hae III 16517 site in the group of the patients (p = 0.0480). By location of the blocks (atrioventricular and intraventricular), the site occurred more frequently in patients with AVB (86.36%). The variant "+" by the site of Hae III 16517 mDNA was found to associate with disturbances of cardiac conduction, more closely in AVB. CONCLUSION: Variability of mDNA may be an etiological factor of idiopathic DCC pathogenesis.

DNA, Mitochondrial↗
PubMed2003

[Comparative phylogenetic study of native north Eurasian populations from a panel of autosomal microsatellite loci].

Genetic relationships among eighth Siberian and Central Asian ethnic groups were examined using autosomal microsatellite loci. Genetic similarity of Buryats and Evenks, as well as close relationships between Tuvinians and Kyrgyzes, most likely resulting from the Altai-Slavic co-ancestry of their gene pools, was demonstrated. Studies of gene flow in these populations demonstrated that, in general, Turkic ethnic groups of Southern Siberia (Altaians and Tuvinians) were the recipients of more intense gene flow compared to Eastern Siberian populations belonging to Altaic family. The local Buryat populations displayed substantial differences in the direction and the level of deviation of the observed gene diversity from the expected one, which was probably caused by the differences in the degree of isolation and/or in effective population sizes.

Asia↗