scholarly journals The role of the TNF (rs1800629), TNFB (rs2239704) and TNFRSF1B (rs652625) genes polymorphic variants in the allergic and infectious disease's development

2020 ◽  
pp. 90-91
Author(s):  
И.Ж. Жалсанова ◽  
Е.Ю. Брагина ◽  
Н.П. Бабушкина ◽  
Н.В. Тарасенко ◽  
М.С. Назаренко ◽  
...  
Keyword(s):  
Gene Transcription ◽  
Functional Significance ◽  
Nucleotide Substitution ◽  
Single Nucleotide Substitution ◽  
Single Nucleotide ◽  
Transcription Pattern ◽  
Ifn Γ ◽  
Polymorphic Variants ◽  
Tnf Gene

В настоящем исследовании установлены ассоциации полиморфных вариантов генов TNF (rs1800629), TNFB (rs2239704) и TNFRSF1B (rs652625) с развитием бронхиальной астмы и туберкулеза. Различия в характере транскрипции гена TNF в зависимости от генотипа и воздействия стимуляторов микробного/немикробного происхождения (LPS, IFN-γ) предполагают функциональную значимость однонуклеотидной замены G>A (rs1800629) в гене TNF. In the present study, we established associations of the genes TNF (rs1800629); TNFB (rs2239704) and TNFRSF1B (rs652625) with the development of bronchial asthma and tuberculosis. Differences in the TNF gene transcription pattern depending on the genotype and the effect of stimulators of microbial/non-microbial origin (LPS, IFN-γ) suggest the functional significance of the single nucleotide substitution G>A (rs1800629) of the TNF gene.

scholarly journals Polymorphic variants of the cholecystokinergic system genes: associations with panic disorders

2018 ◽  
pp. 190-194
Author(s):  
E. A. Klimov ◽  
A. V. Malakhova ◽  
L. A. Korobeinikova ◽  
Yu. E. Azimova ◽  
O. I. Rudko ◽  
...  
Keyword(s):  
Panic Disorder ◽  
Patient Population ◽  
Nucleotide Substitution ◽  
Moscow Region ◽  
Single Nucleotide Substitution ◽  
Nucleotide Substitutions ◽  
Single Nucleotide ◽  
Panic Disorders ◽  
Polymorphic Variants ◽  
Significant Disease

Panic disorder is a widespread socially significant disease, which genetic nature is extremely poorly known. The gene of this neuropeptide (CCK) and its receptors (CCKAR, CCK2R) have being actively studied since the discovery of panicogenic properties of cholecystokinin. The purpose of this work was to estimate the degree of incidence of seven single nucleotide substitutions in the CCK, CCKAR and CCKBR genes in the population of patients diagnosed with panic disorder and a control population consisting of unexamined residents of the Moscow region. A significant increase in the degree of incidence of the T allele of the single nucleotide substitution 109C/T (rs1805000) in the CCKBR gene was identified in the patient population as compared with the controls, prompting suggestions that this substitution is involved in the aetiology of panic disorder. It also demonstrated the association of the combination of alleles -36T CCK, -128T CCKAR (rs11571842 and rs1800908, respectively) with the development of a panic disorder.

Association of genetic polymorphism of cytokines and antioxidant enzymes with the development of asbestosis

2020 ◽  
Vol 60 (12) ◽  
pp. 898-903
Author(s):  
Lyudmila P. Kuzmina ◽  
Anastasiya G. Khotuleva ◽  
Evgeniy V. Kovalevsky ◽  
Nikolay N. Anokhin ◽  
Iraklij M. Tskhomariya
Keyword(s):  
Antioxidant Enzymes ◽  
Genetic Polymorphism ◽  
Genetic Predisposition ◽  
Risk Groups ◽  
Dust Exposure ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Gstp1 Gene ◽  
Polymorphic Variants

Introduction. Various industries widely use chrysotile asbestos, which determines the relevance of research aimed at the prevention of asbestos-related diseases. It is promising to assess the role of specific genes, which products are potentially involved in the development and regulation of certain links in the pathogenesis of asbestosis, forming a genetic predisposition to the disease. The study aims to analyze the presence of associations of genetic polymorphism of cytokines and antioxidant enzymes with asbestosis development. Materials and methods. Groups were formed for examination among employees of OJSC "Uralasbest" with an established diagnosis of asbestosis and without lung diseases. For each person included in the study, dust exposure doses were calculated considering the percentage of time spent at the workplace during the shift for the entire work time. Genotyping of single nucleotide polymorphisms of cytokines IL1b (rs16944), IL4 (rs2243250), IL6 (rs1800795), TNFα (rs1800629) and antioxidant enzymes SOD2 (rs4880), GSTP1 (rs1610011), CAT (rs1001179) was carried out. Results. The authors revealed the associations of polymorphic variants A511G IL1b gene (OR=2.457, 95% CI=1.232-4.899) and C47T SOD2 gene (OR=1.705, 95% CI=1.055-2.756) with the development of asbestosis. There was an increase in the T allele IL4 gene (C589T) frequency in persons with asbestosis at lower values of dust exposure doses (OR=2.185, 95% CI=1.057-4.514). The study showed the associations of polymorphism C589T IL4 gene and C174G IL6 gene with more severe asbestosis, polymorphism A313G GSTP1 gene with pleural lesions in asbestosis. Conclusion. Polymorphic variants of the genes of cytokines and antioxidant enzymes, the protein products directly involved in the pathogenetic mechanisms of the formation of asbestosis, contribute to forming a genetic predisposition to the development and severe course of asbestosis. Using the identified genetic markers to identify risk groups for the development and intense period of asbestos-related pathology will optimize treatment and preventive measures, considering the organism's characteristics.

scholarly journals A single nucleotide substitution in the coding region of Ogura male sterile gene, orf138, determines effectiveness of a fertility restorer gene, Rfo, in radish

2021 ◽  
Author(s):  
Hiroshi Yamagishi ◽  
Megumi Jikuya ◽  
Kanako Okushiro ◽  
Ayako Hashimoto ◽  
Asumi Fukunaga ◽  
...  
Keyword(s):  
Male Sterility ◽  
Nucleotide Substitution ◽  
Fertility Restoration ◽  
Type A ◽  
Restorer Gene ◽  
Single Nucleotide Substitution ◽  
Coding Region ◽  
Fertility Restorer ◽  
Single Nucleotide ◽  
Fertility Restorer Gene

AbstractCytoplasmic male sterility (CMS) observed in many plants leads defect in the production of functional pollen, while the expression of CMS is suppressed by a fertility restorer gene in the nuclear genome. Ogura CMS of radish is induced by a mitochondrial orf138, and a fertility restorer gene, Rfo, encodes a P-type PPR protein, ORF687, acting at the translational level. But, the exact function of ORF687 is still unclear. We found a Japanese variety showing male sterility even in the presence of Rfo. We examined the pollen fertility, Rfo expression, and orf138 mRNA in progenies of this variety. The progeny with Type H orf138 and Rfo showed male sterility when their orf138 mRNA was unprocessed within the coding region. By contrast, all progeny with Type A orf138 were fertile though orf138 mRNA remained unprocessed in the coding region, demonstrating that ORF687 functions on Type A but not on Type H. In silico analysis suggested a specific binding site of ORF687 in the coding region, not the 5′ untranslated region estimated previously, of Type A. A single nucleotide substitution in the putative binding site diminishes affinity of ORF687 in Type H and is most likely the cause of the ineffectiveness of ORF687. Furthermore, fertility restoration by RNA processing at a novel site in some progeny plants indicated a new and the third fertility restorer gene, Rfs, for orf138. This study clarified that direct ORF687 binding to the coding region of orf138 is essential for fertility restoration by Rfo.

A novel single‐nucleotide substitution in the proximal ABO promoter gives rise to the B 3 phenotype

Transfusion ◽  
2019 ◽  
Vol 59 (10) ◽  
Author(s):  
åsa Hellberg ◽  
Annika K. Hult ◽  
Ines Moser ◽  
Beatriz Tomaz ◽  
Maria Rodrigues ◽  
...  
Keyword(s):  
Nucleotide Substitution ◽  
Single Nucleotide Substitution ◽  
Single Nucleotide

scholarly journals Epizootic Situation on Anaplasmosis of Small Ruminants in the Irkutsk Region

2021 ◽  
Vol 6 (1) ◽  
pp. 60-68
Author(s):  
O. V. Suntsova ◽  
V. A. Rar ◽  
O. V. Lisak ◽  
I. V. Meltsov ◽  
E. K. Doroschenko ◽  
...  
Keyword(s):  
Nucleotide Substitution ◽  
Small Ruminants ◽  
Wide Distribution ◽  
Anaplasma Ovis ◽  
Single Nucleotide ◽  
Blood Samples ◽  
Sheep Blood ◽  
Irkutsk Region ◽  
Probable Role

Anaplasmosis of ruminants is a group of natural focal infections caused by bacteria from the genus Anaplasma of the Anaplasmataceae family. The main etiological agent of anaplasmosis in sheep, goats, and wild ruminants is Anaplasma ovis, which parasitizes in the erythrocytes of these animals. The purpose of this study was the finding and identification of Anaplasma spp. in the blood of small ruminants using genetic methods and obtaining data on the distribution of anaplasmosis in the Irkutsk region. 20 goat blood samples, 611 sheep blood samples and 209 Dermacentor nuttalli ticks from 12 districts of the Irkutsk region were examined for the presence of Anaplasma spp. Only one type of anaplasma, A. ovis, was found among the genotyped samples. A. ovis was found in the blood of sheep and goats in all of the studied districts of the Irkutsk region. The proportion of sheep blood samples containing anaplasma DNA varied from 30 % to 85 %, in goats – from 10 % to 100 % in different districts, and averaged 57.8 % in sheep and 55,0 % in goats. Frequency of infection of D. nuttalli ticks with A. ovis was 5.7 %. The nucleotide sequences of the samples detected in the blood of small ruminants on the territory of the Irkutsk region differed from each other by a single nucleotide substitution and were identical to the sequences of the type strain Haibei, as well as the sequences of A. ovis previously found in the blood of sheep from Mongolia, deer from China, and Dermacentor niveus and Dermacentor nuttalli ticks from China. These sequences were also identical to the sequences previously found in the blood of sheep from Altai and in Dermacentor nuttalli ticks from Tuva, which indicates the wide distribution of these A. ovis genovariants in Siberia and the probable role of D. nuttalli as a carrier of the agent of anaplasmosis of small ruminants in the Irkutsk region.

scholarly journals Expanded insecticide catabolic activity gained by a single nucleotide substitution in a bacterial carbamate hydrolase gene

2016 ◽  
Vol 18 (12) ◽  
pp. 4878-4887 ◽  
Author(s):  
Başak Öztürk ◽  
Maarten Ghequire ◽  
Thi Phi Oanh Nguyen ◽  
René De Mot ◽  
Ruddy Wattiez ◽  
...  
Keyword(s):  
Nucleotide Substitution ◽  
Single Nucleotide Substitution ◽  
Single Nucleotide ◽  
Catabolic Activity

A broadly sampled 3-loci plastid phylogeny of Atraphaxis (Polygoneae, Polygonoideae, Polygonaceae) reveals new taxa: II. Atraphaxis selengensis spec. nov., and A. davurica Jaub. & Spach from Russian Transbaikalia

Phytotaxa ◽  
2021 ◽  
Vol 484 (1) ◽  
pp. 44-74
Author(s):  
OLGA V. YURTSEVA ◽  
N.K. BADMAEVA ◽  
EVGENY V. MAVRODIEV
Keyword(s):  
Maximum Likelihood ◽  
Nucleotide Substitution ◽  
Single Nucleotide Substitution ◽  
Sem Images ◽  
Single Nucleotide ◽  
Bayesian Analyses ◽  
Dune Sands ◽  
F Region ◽  
Specific Morphology ◽  
Length Width

Maximum Likelihood (ML) and Bayesian analyses (BI) applied for 3-plastid loci (cpDNA trnL(UAA) intron, trnL–trnF IGS, and rpl32–trnL(UAG) IGS regions) / 55 tips of Atraphaxis revealed a subclade of two endemics from Transbaikalia (Dahuria) which are often mistaken for A. pungens and A. frutescens but phylogenetically distant from both. Atraphaxis selengensis is a species new to science which inhabits dune sands along the Selenga and Chikoy rivers and has specific morphology of perianth, fruits, ochreas, leaf blades, and pollen. Atraphaxis davurica inhabits stony mountain steppe in Buryatia and Chita region and differs from A. pungens and A. frutescens by longer ochreas, fruits, styles and stigmas extended to ends. Two varieties recognized by Ledebour in plants from Russian Transbaikalia have no clear morphological and molecular distinctions, but the plants from Khentei-Chikoy Highlands subtly differ in leaf ratio (length/width), bark colour, and a single-nucleotide substitution in trnL–F region. These plants are described as A. davurica var. chikoensis var. nov. Morphological descriptions of A. selengensis and A. davurica are supplied with LM and SEM images and a distributional map. Atraphaxis frutescens and A. pungens are absent from Russian Transbaikalia but distributed in Altai, Tuva, Khakassia, Mongolia and China.

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