104 research outputs found

    Experimental studies of energy characteristics of mixer with deformable camera

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    Currently the development of new machine designs and methods of their engineering calculation is one of the most priority areas of construction industry. It allows one to carry out research at the stage of theoretical calculations in order to predict the expected result. One of the promising constructive solutions for economic profitability increase of mixing equipment is the use of deformable working chamber

    MARKER-ASSOCIATED SELECTION OF RUSSIAN POTATO VARIETIES WITH USING MARKERS OF RESISTANCE GENES TO THE GOLDEN POTATO CYST NEMATODE (PATHOTYPE RO1)

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    The results of molecular screening of 103 Russian breeding varieties from the VIR potato collection are presented. These varieties were studied for the presence of diagnostic markers associated with the HI and Grol-4 genes conferring resistance to the golden potato cyst nematode - Globodera rostochiensis (Woll.) Behr. - pathotype Ro1. 25 varieties possessed the diagnostic markers of these genes. Among the nematode-resistant varieties, the frequency of genotypes with the diagnostic fragments of 57R and N195 markers of the Hl locus was 98%, and of marker Gro1-4-1 of the Grol-4 gene - 2%

    Finding RB/Rpi-blb1/Rpi-sto1-like sequences in conventionally bred potato varieties

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    The main objectives in potato breeding are increasing yield abilities and improving resistance to numerous pathogens and pests. Among them, the late blight caused by the Phytophthora infestans oomycete is one of the most destructive potato diseases both in Russia and worldwide. Wild relatives of cultivated potato are traditionally used in breeding as the source of valuable R genes conferring resistance to pathogens. Of particular interest are Mexican wild species because Mexico is the centre of origin and diversity of P. infestans and at the same time, it is the centre of potato species diversity.  Mexican wild potato species S. bulbocastanum and S. stoloniferum are an important source of the R genes conferring broad-spec trum resistance against various isolates of P. infestans (Rpi-blb1,  Rpi-blb2, Rpi-sto1). Recently these genes have been transferred into cultivated potato gene pool using the cisgene  approach. At the same time there is a high probability of finding geno types with the Rpi-sto1 gene (functional homologues of  Rpi-blb1) among conventionally bred varieties because for about 40 years S. stoloniferum has been used in breeding as a source of the Rysto and Ry-fsto genes of the extreme resistance to the most important viral pathogen PVY. In this study 188 potato varieties bred in Russia and in near-abroad countries were screened for the presence of six gene-specific markers of the RB/Rpi-blb1 =  Rpi-sto1 and Rpi-blb2 genes conferring broad-spectrum resistance against P. infestans, and for the markers linked to the Rysto and Ry-fsto genes conferring extreme resistance to PVY. In addition, a marker for detecting male sterile mitochondrial DNA type gamma derived from S. stoloniferum was used. The genotypes selected through the molecular markers were divided into four groups: (A) 13 PVY resistant varieties carrying diagnostic markers of the Rysto, Ry-fsto genes and having sterile mt-type gamma; (B) four varieties possessing mt-type gamma and not having the markers of the R genes introgressed from S. stoloniferum; (C) eight genotypes carrying five gene-specific markers for the RB/Rpi-blb1/= Rpi-sto1; (D) the rest 166 (86.9 %) varieties not possessing any of the diagnostic markers associated with the S. stoloniferum genetic material. The sequences of the Rpi-sto1- and BLB1 F/R-amplicons were identical in all the genotypes of group ‘C’ and showed respective 99 % and 100 % similarity to the corresponding fragments of the Rpi-sto1 and Rpi-blb1 genes from the GenBank database. Among the genotypes of group ‘C’ various mt-types were detected, and some of them were male fertile

    Genetic diversity of potato varieties bred in Russia and near-abroad countries based on polymorphism of SSR-loci and markers associated with resistance R-genes

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    The genetic diversity of potato varieties from the VIR collection was analyzed based on microsatellite analysis. These varieties have been bred in Russia and near-abroad countries since the 1931. Application of 14 highly polymorphic nuclear microsatellites (SSR) enabled the complete discrimination of all 113 varieties. Additionally, we have studied these varieties for the distribution of 8 DNA markers associated with three R-genes involved in the control of resistance to two quarantine objects: the potato wart Synchytrium endobioticum and golden potato cyst nematode Globodera rostochiensis, which occur locally in some regions of the Russian Federation. All the analyzed varieties with resistance to S. endobioticum pathotype 1 revealed the diagnostic marker Nl-251400 of the Sen1 gene and a few susceptible cultivars lost this diagnostic fragment. The tested markers of the H1 and Gro1-4 genes, which confer resistance to G. rostochiensis pathotype Ro1 revealed different predictiveness. In the molecular screening of potato varieties, it is better to use several markers of these genes. Results of molecular screening using six markers of the H1 and Gro1-4 genes allowed us to detect 6 haplotypes in the tested subset. Five haplotypes include varieties with different combinations of the markers tested, the majority (87.9 %) of these varieties were highly resistant or moderately resistant to G. rostochiensis. The most numerous haplotype H1/0 included 76 varieties, which did not possess any marker; 96.1 % of these varieties were susceptible to G. rostochiensis. Predictive associations between haplotype content, wart and nematode resistance, pedigree and ‘variety age’ are discussed

    Cytoplasmic genetic diversity of potato varieties bred in Russia and FSU countries

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    Male sterility in potato is little studied since traditional breeding is based  on the vegetative reproduction of highly heterozygous tetraploid varieties. The rapid development of hybrid diploid breeding contributes to growing interest in studying the male sterility of this important crop. In this work, a set of 6 cytoplasmic markers was employed to describe cytoplasmic genetic diversity of 185 potato cultivars bred in Russia and FSU countries. Three cytoplasm types were identified, T (40.0 %), D (50.8 %) and W/γ (8.7 %), which according to literature  are associated with male sterility. With a single exception (0.5 %), cytoplasm types characteristic of male fertile forms (A, P) were not found in the subset  of 185 cultivars. A comparison of these results with previously published data suggested expanding the subset  to up to 277 cultivars, all developed in Russia or FSU countries;  however,  the resulting  differentiation into three cytoplasm  types (T, D and W/γ) was nearly the same. Fertility phenotyping helped identify both  male-sterile and male-fertile genotypes within the three groups  of varieties with T-, D- and W/γ-type cytoplasm. Fifteen genotypes differing in cytoplasm  type and male sterility/fertility traits were selected for direct sequencing of 8 mtDNA loci. Fragments of the  nad2, nad7, cox2, atp6 and  CcmFc genes  were identical  in all 15 selected genotypes. The polymorphism, detected in the rps3, atp9 and CcmFc loci, was not associated with male sterility. Two SNPs in the nad1/atp6 and nad2 loci differentiated 7 genotypes with W/γ-type cytoplasm into five genotypes with tetrad sterility, and two with fertile pollen. The results of an NGS analysis confirmed  the association of these  SNPs with tetrad sterility in a larger set of 28 genotypes of different origin, all with W/γ-type cytoplasm.  A heteroplasmy state  was observed both in male-sterile and in male-fertile genotypes

    First experience of using Brentuximab vedotin and modified program NHL-BFM-90 in the front-line treatment of patient with anaplastic large-cell lymphoma: a case report and a review of literature

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    Nodal anaplastic ALK-negative large cell lymphoma (nALCL, ALK-) is a Т-cell lymphoma that is characterized by aggressive clinical course and low sensitivity to СНОР (cyclophosphamide, doxorubicin, vincristine, prednisolone) and other chemotherapy regimen. In the article we present a literature review and describe our clinical case of nALCL, ALK-. For the first time a combination of Brentuximab vedotin with modified program NHL-BFM-90 was used as a first-line therapy. As a result of immunochemotherapy a complete antineoplastic effect was obtained. For consolidation of this effect high-dose chemotherapy with following autologous blood stem cell transplantation was performed. The chosen treatment tactics allowed to achieve a complete remission in a medium risk group patient

    Outpatient diagnosis of chronic obstructive pulmonary disease exacerbations (For a practicing doctor)

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    The article is focused on the diagnosis of exacerbations of chronic obstructive pulmonary disease (COPD). Comorbidities should be always excluded In smokers with clinical symptoms of exacerbations and normal lung function. Because of high rate (>50%) of undiagnosed COPD exacerbation we recommend to use validated questionnaires: «Exacerbations of Chronic Pulmonary Disease Tool» (EXACT) or «Breathlessness, Cough, and Sputum Scale» (BCSS) and leaflet for patients during their follow-up. We proposed algorithm for the diagnosis of COPD exacerbations in outpatient facilities in real clinical practiceХроническая обструктивная болезнь легких (ХОБЛ) является одним из наиболее распространенных заболеваний во всем мире и в России. Статья посвящена диагностике обострений хронической обструктивной болезни легких (ХОБЛ) у амбулаторных больных. Сопутствующие заболевания должны быть всегда исключены у курильщиков с клиническими симптомами обострений и нормальной функцией легких. Поэтому, при оценке обострения ХОБЛ на основании симптомов, необходимо убедиться, что у больного имеется ХОБЛ. Степень понимания пациентами термина «обострение» в целом является низкой. 59,2% больных никогда не слышали этот термин или не знают, что он означает. Данное обстоятельство свидетельствует об актуальности диагностики обострений ХОБЛ в амбулаторных условиях. Для диагностики обострения ХОБЛ используются два валидизированных опросника: «Exacerbations of Chronic Pulmonary Disease Tool» (EXACT) и «Breathlessness, Cough, and Sputum Scale» (BCSS) и памятка для пациентов с ХОБЛ. С целью оптимизации диагностики обострений ХОБЛ в амбулаторных условиях предлагается алгоритм действий врача на поликлиническом приеме с бальной оценкой симптомов

    Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

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    Background:Genomic structural variants (SVs) can affect many genes and regulatory elements. Therefore, the molecular mechanisms driving the phenotypes of patients carrying de novo SVs are frequently unknown. Methods:We applied a combination of systematic experimental and bioinformatic methods to improve the molecular diagnosis of 39 patients with multiple congenital abnormalities and/or intellectual disability harboring apparent de novo SVs, most with an inconclusive diagnosis after regular genetic testing. Results: In 7 of these cases (18%), whole-genome sequencing analysis revealed disease-relevant complexities of the SVs missed in routine microarray-based analyses. We developed a computational tool to predict the effects on genes directly affected by SVs and on genes indirectly affected likely due to the changes in chromatin organization and impact on regulatory mechanisms. By combining these functional predictions with extensive phenotype information, candidate driver genes were identified in 16/39 (41%) patients. In 8 cases, evidence was found for the involvement of multiple candidate drivers contributing to different parts of the phenotypes. Subsequently, we applied this computational method to two cohorts containing a total of 379 patients with previously detected and classified de novo SVs and identified candidate driver genes in 189 cases (50%), including 40 cases whose SVs were previously not classified as pathogenic. Pathogenic position effects were predicted in 28% of all studied cases with balanced SVs and in 11% of the cases with copy number variants. Conclusions:These results demonstrate an integrated computational and experimental approach to predict driver genes based on analyses of WGS data with phenotype association and chromatin organization datasets. These analyses nominate new pathogenic loci and have strong potential to improve the molecular diagnosis of patients with de novo SVs
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