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.

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 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 A Novel Test System for Genotyping rs43703016 Single-nucleotide Substitutions in the Bovine CSN3 Gene

2019 ◽  
pp. 1-5
Author(s):  
Svetlana Kovalchuk ◽  
Arina Tagmazyan ◽  
Eugene Klimov
Keyword(s):  
Nucleotide Substitution ◽  
Milk Proteins ◽  
Test System ◽  
Nucleotide Polymorphisms ◽  
Dna Testing ◽  
Nucleotide Substitutions ◽  
Single Nucleotide ◽  
Allele Specific ◽  
Selection Of

Aims: Caseins are among the main milk proteins that determine many of its properties. Bovine kappa-casein (CSN3) is associated with the qualitative composition of milk, as well as with the quality of cheese obtained from this milk. The rs43703016 single-nucleotide substitution (g.88532332A>C; Asp148Ala) in exon 4 of the bovine CSN3 gene plays an important role in the production of quality hard cheeses. Various methods for the DNA testing of this substitution have been developed in the last three decades. Emergent DNA technologies provide an opportunity to modernize methods of genotyping single-nucleotide polymorphisms. Results: We have developed and verified a method to differentiate A/C alleles of the rs43703016 substitution in the bovine CSN3 gene by real-time PCR using allele-specific fluorescent probes. Conclusion: Our new method allows fast genotyping of animals, and may be used for selection of cows carrying the CC genotype, which determines good cheese-making properties of milk.

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.

A novel primary KIT exon 9 single nucleotide substitution c.1427G>T (p.Ser476Ile) in a gastrointestinal stromal tumor

2010 ◽  
Vol 457 (5) ◽  
pp. 623-625
Author(s):  
Florian Grabellus ◽  
Sien-Yi Sheu ◽  
Sebastian Bauer ◽  
Norbert Speich ◽  
Kurt W. Schmid ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumor ◽  
Nucleotide Substitution ◽  
Stromal Tumor ◽  
Single Nucleotide Substitution ◽  
Single Nucleotide ◽  
Exon 9
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