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1.
Complex medical-genetic study was performed in the center of Kostroma Province with the population of about 250 thousands. A method for ascertainment of patients was developed and the information value of different sources of a registration system available is given. The complete algorithm of calculation of both the segregation frequency and the fraction of sporadic cases for autosomal recessive diseases is presented. 相似文献
2.
A model of isolation by distance proposed by Malécot and developed by Morton is applied to the data on marriage distances collected in two regions of Kostroma Province. There is good agreement between the estimates of local inbreeding when using the isonymy method and the model of isolation by distance. Interpopulation kinship approaches 0 at the distance 700 km. The mean coefficient of kinship for parents in the families with autosomal-recessive pathology is 20 times higher than mean coefficient of kinship in the population. 相似文献
3.
M. A. Bermisheva N. V. Petrova R. A. Zinchenko E. E. Timkovskaya P. Yu. Malyshev S. G. Gavrilina E. K. Ginter E. K. Khusnutdinova 《Russian Journal of Genetics》2007,43(5):563-578
Genetic structure of Southern and Northern ethnographic groups of the Udmurt population from six regions of the Republic of Udmurtia has been studied. All the samples were examined using ten polymorphic DNA loci: VNTR/PAH, VNTR/ApoB, VNTR/DATI, VNTR/eNOS, ACE, CCR5 Δ32, KM19, IVS6a, THOI, and FABP2. Allelic and genotype frequencies were estimated for each of the six populations. The average heterozygosity for these ten polymorphic loci varied from 0.47 in Udmurts from Glazovskii region to 0.53 in Udmurts from Malopurginskii region. The level of genetic variation (F ST) between populations of Udmurts was 0.0048. Ethnographic subdivision of the population into Northern and Southern Udmurts is in good agreement with the values of genetic distances and phylogenetic analysis. 相似文献
4.
Zinchenko R. A. El’chinova G. I. Bikanov R. A. Marakhonov A. V. Kadyshev V. V. Kutsev S. I. Ginter E. K. 《Russian Journal of Genetics》2019,55(6):738-743
Russian Journal of Genetics - The generalized results of the genetic and epidemiological study of the genetic structure of various ethnic groups of the Karachay-Cherkess Republic (KChR) through... 相似文献
5.
Khusnutdinova EK Viktorova TV Akhmetova VL Mustafina OE Fatkhlislamova RI Balanovskaia EV Petrova NV Makarov SV Kravchuk OI Paĭ GV Ginter EK 《Genetika》2003,39(11):1550-1563
Population-genetic study of indigenous populations representing three ethnic Chuvash group: highland (Cheboksarsk and Morgaush district), lowland (Kanash district) and mid-lowland (Marposad district). Eight polymorphic DNA loci of the nuclear genome (VNTR/PAH, STR/PAH, VNTR/ApoB, VNTR/DAT1, APF, VNTR/eNOS, IVS6aGATT, and KM.19/PstI) were examined in the population of each district. For each of the four population, we estimated the allele and genotype frequency distributions at each polymorphic system, heterozygosities HS and between-population differences FST. In the combined Chuvash sample, HS = 0.464 and FST = 0.006. Loci VNTR(DAT) and VNTR(ApoB) showed highest between-population differentiation (0.009 < or = FST < or = 0.012), and loci IVS6aGATT, APF, VNTR/eNOS, and D7S23 (KM.19), lowest differentiation (0.001 < or = FST < or = 0.003). Analysis of genetic distances revealed somewhat higher genetic similarity between the Cheboksarsk and Morgaush populations belonging to the highland Chuvash group, whereas the highland Chuvash population from the Marposad district, which belong to the mid-lowland group, was more distant from the former populations. 相似文献
6.
Hypervariable "minisatellite" regions detected in human genome by wild-type phage M13 DNA were found to have high polymorphism and somatic stability. Analysis of individual specific patterns of hybridization of 44 human DNAs from the Kirov province is presented. Molecular weight of fragments varied from 2 to 6 kb. Mean frequency of a fragment in the population under study is p = 0.294 +/- 0.158. The mean number of fragments per individual is 11.6 +/- 1.8. Comparison between the Kirov population and that of Krasnodar studied earlier was carried out. The mean genetic distance between Kirov and Krasnodar populations calculated according to Nei is 0.2082. The possibility of using in population-genetic studies of hypervariable DNA markers having fingerprint type of hybridization is discussed. 相似文献
7.
Matías Alejandro Molina Ailén Magalí Díaz Christina Hesse Wiebke Ginter María Virginia Gentilini Guillermo Gabriel Nu?ez Andrea Mercedes Canellada Tim Sparwasser Luciana Berod Marisa Silvia Castro Marcela Alejandra Manghi 《PloS one》2015,10(5)
Probiotics can modulate the immune system, conferring beneficial effects on the host. Understanding how these microorganisms contribute to improve the health status is still a challenge. Previously, we have demonstrated that Enterococcus faecalis CECT7121 implants itself and persists in the murine gastrointestinal tract, and enhances and skews the profile of cytokines towards the Th1 phenotype in several biological models. Given the importance of dendritic cells (DCs) in the orchestration of immunity, the aim of this work was to elucidate the influence of E. faecalis CECT7121 on DCs and the outcome of the immune responses. In this work we show that E. faecalis CECT7121 induces a strong dose-dependent activation of DCs and secretion of high levels of IL-12, IL-6, TNFα, and IL-10. This stimulation is dependent on TLR signaling, and skews the activation of T cells towards the production of IFNγ. The influence of this activation in the establishment of Th responses in vivo shows the accumulation of specific IFNγ-producing cells. Our findings indicate that the activation exerted by E. faecalis CECT7121 on DCs and its consequence on the cellular adaptive immune response may have broad therapeutic implications in immunomodulation. 相似文献
8.
9.
R. A. Zinchenko A. Kh. Makaov V. V. Kadyshev V. A. Galkina E. L. Dadali L. K. Mikhailova M. F. Shurygina A. V. Marakhonov N. V. Petrova N. E. Petrina G. I. El’chinonva P. Gundorova A. S. Tanas V. V. Strelnikov A. V. Polyakov E. K. Ginter 《Russian Journal of Genetics》2018,54(7):858-865
The diversity and prevalence of hereditary diseases (HDs) among Nogais of the Karachay-Cherkess Republic (KChR) are described. The size of the surveyed KChR population was 387231 individuals, including 3.81% Nogais (14741 individuals). We revealed 36 nosological forms of HDs (110 patients from 81 families): 22 with autosomal dominant (AD) inheritance, 10 with autosomal recessive (AR) inheritance, and 4 with X-linked inheritance. The prevalence of HDs in Nogais was 1: 134. The features of HD diversity in Nogais were determined in comparison with the previously surveyed populations of Russia. The accumulation of Ehlers–Danlos syndrome (1: 388), AD amelogenesis imperfecta (1: 3685), AD ichthyosis (1: 4914), AR nonsyndromic mental retardation (1: 1340), AR Gilbert syndrome (1: 4914), and X-linked inherited deficit of glucose-6-dehydrogenase (1: 1774 males) was established. The analysis of heterozygous carriage of mutations “major” for Russia in the genes of the four following AR diseases in 118 unrelated clinically healthy Nogais (236 analyzed chromosomes) was performed: cystic fibrosis (13 mutations in the CFTR gene: CFTRdele2,3 (21 kb), F508del, I507del, 1677delTA, 2184insA, 2143delT, 2183AA>G, 2184delA, 394delTT, 3821delT, L138ins, E92K, W1282X); phenylketonuria (six frequent mutations in the PAH gene: R261X, R408W, R413P, F331S, P211T, P211L); nonsyndromic sensorineural hearing loss (35delG mutation in the GJB2 gene); and Gilbert syndrome (an increase in the number of TA repeats in the UGT1A1 gene). Allelic specificity for all studied genes in the Nogai people was revealed. 相似文献
10.
R. A. Zinchenko G. I. Elchinova N. V. Petrova E. V. Osipova P. Yu. Malyshev A. V. Polyakov E. K. Ginter 《Russian Journal of Genetics》2007,43(8):918-928
Integrated study of the genetic structure of the Udmurt population with respect to different genetic systems has been performed. Data on the genes of genetic diseases, abiotic parameters analyzed by population statistic methods, and DNA polymorphism are summarized. The populations of six raions (districts) of Udmurt Republic (the Mozhga, Malaya Purga, Sharkan, Debesy, Igra, and Glazov raions) have been studied. The total population studied was 267 655 people (an urban population of 150 119 people and a rural population of 117 536 people), including 155 346 Udmurts. The population structure has been studied in six districts on the basis of the vital statistics, Crow’s indices, Malecot’s isolation by distance parameters, ethnically assortative marriage parameters, endogamy indices, inbreeding-endogamy (ie) indices, and frequencies of the genotype and allele frequencies of four DNA markers (17 alleles). The prevalences of hereditary diseases have been calculated for different population groups: urban and rural populations, Udmurts and other ethnic groups. These groups, especially the urban and rural populations, substantially differed from one another in the prevalences of autosomal dominant (AD) and autosomal recessive (AR) diseases. The correlation between the prevalence of AD and AR diseases and the ie index is positive and significant. The spectrum of hereditary diseases detected in six districts of Udmurtia comprises 149 diseases (80, 57, and 12 AD, AR, and X-linked diseases, respectively). Accumulation of individual diseases in districts of Udmurtia and accumulation of diseases in Udmurtia as compared to regions studied earlier has been found. Cluster analysis of the frequencies of genes of AD and AR diseases and DNA markers has determined the gene geographic position of Udmurts. 相似文献