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Wyświetlanie 1-10 z 33
Tytuł:
Association between a nucleotide polymorphism in the calpain 10 gene and carbohydrate metabolism disturbances in patients with polycystic ovary syndrome
Autorzy:
Szydlarska, Dorota
Machaj, Małgorzata
Powiązania:
https://bibliotekanauki.pl/articles/552368.pdf
Data publikacji:
2016
Wydawca:
Stowarzyszenie Przyjaciół Medycyny Rodzinnej i Lekarzy Rodzinnych
Tematy:
diabetes
hyperandrogenism
single nucleotide polymorphism.
Źródło:
Family Medicine & Primary Care Review; 2016, 4; 497-500
1734-3402
Pojawia się w:
Family Medicine & Primary Care Review
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Characterisation of genome-wide structural aberrations in canine mammary tumours using single nucleotide polymorphism (SNP) genotyping assay
Autorzy:
Surdyka, M.
Gurgul, A.
Slaska, B.
Pawlina, K.
Szmatola, T.
Bugno-Poniewierska, M.
Smiech, A.
Kasperek, K.
Powiązania:
https://bibliotekanauki.pl/articles/2087566.pdf
Data publikacji:
2019
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
dog
cancer
mammary tumour
structural aberration
CNV
LOH
Źródło:
Polish Journal of Veterinary Sciences; 2019, 1; 133-141
1505-1773
Pojawia się w:
Polish Journal of Veterinary Sciences
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
A study of single nucleotide polymorphism in the ystB gene of Yersinia enterocolitica strains isolated from various wild animal species
Autorzy:
Bancerz-Kisiel, Agata
Szczerba-Turek, Anna
Platt-Samoraj, Aleksandra
Michalczyk, Maria
Szweda, Wojciech
Powiązania:
https://bibliotekanauki.pl/articles/988986.pdf
Data publikacji:
2017
Wydawca:
Instytut Medycyny Wsi
Tematy:
hrm
snp
wild animal species
y. enterocolitica
ystb
Opis:
Introduction and objective. Y. enterocolitica is the causative agent of yersiniosis. The objective of the article was a study of single nucleotide polymorphism in the ystB gene of Y. enterocolitica strains isolated from various wild animal species. Materials and method. High-resolution melting (HRM) analysis was applied to identify single nucleotide polymorphism (SNP) of ystB gene fragments of 88 Y. enterocolitica biotype 1A strains isolated from wild boar, roe deer, red deer and wild ducks. Results. HRM analysis revealed 14 different melting profiles – 4 of them were defined as regular genotypes (G1, G2, G3, G4), whereas 10 as variations. 24 of the examined Y. enterocolitica strains were classified as G1, 18 strains as a G2, 21 strains as a G3, and 15 strains as a G4. Nucleotide sequences classified as G1 revealed 100% similarity with the Y. enterocolitica D88145.1 sequence (NCBI). Analysis of G2 revealed one point mutation – transition T111A. One mutation was also found in G3, but SNP was placed in a different gene region – transition G193A. Two SNPs – transitions G92C and T111A – were identified in G4. Direct sequencing of 10 variations revealed 5 new variants of the ystB nucleotide sequence: V1 – transition G129A (3 strains); V2 – transitions T111A and G193A (2 strains); V3 – transitions C118T and G193A (1 strain); V4 – transitions C141A and G193A (2 strains); and V5 characterized by 19 SNPs: G83A, T93A, A109G, G114T, C116T, A123G, T134C, T142G, T144C, A150C, G162A, T165G, T170G, T174A, T177G, G178A, A179G, A184G and G193A (2 strains). The predominant genotype in isolates from wild ducks was G1; in red deer G2; in wild boar G3; in roe deer G1 and G4. Conclusions. The proposed HRM method could be used to analyze Y. enterocolitica biotype 1A strains isolated from different sources, including humans.
Źródło:
Annals of Agricultural and Environmental Medicine; 2017, 24, 1
1232-1966
Pojawia się w:
Annals of Agricultural and Environmental Medicine
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
SOCS3 is epigenetically up-regulated in steroid resistant nephrotic children
Autorzy:
Zaorska, Katarzyna
Zawierucha, Piotr
Ostalska-Nowicka, Danuta
Nowicki, Michał
Powiązania:
https://bibliotekanauki.pl/articles/1038853.pdf
Data publikacji:
2016
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
methylation
nephrotic syndrome
single nucleotide polymorphism
steroid resistance
Opis:
Background. The mechanism of steroid resistance in children with the nephrotic syndrome is yet unknown. About 20% of patients demonstrate steroid unresponsiveness and progress to end stage renal disease. Aberrant SOCS3 and SOCS5 expression in steroid resistant and sensitive patients has previously been demonstrated. Here, we investigate genetic and epigenetic mechanisms of regulation of SOCS3 and SOCS5 transcription in nephrotic children. Methods. 76 patients with the nephrotic syndrome (40 steroid resistant and 36 steroid sensitive) and 33 matched controls were included in this study. We performed genotyping of a total of 34 single nucleotide polymorphisms for SOCS3 and SOCS5 promoters and evaluated their methylation status using MS-PCR and QMSP methods. Results. Steroid resistant patients had a significantly lower methylation of one region of SOCS3 promoter in comparison with steroid sensitive patients and controls (p < 0.0001). However, the relative methylation level in the steroid sensitive patients and controls differed significantly even before the first steroid dose (p = 0.001758). Other SOCS3 and SOCS5 promoter regions displayed no differences in methylation or were fully methylated/unmethylated in all study groups, showing site-specific methylation. The allele and genotype distribution for SOCS3 and SOCS5 markers did not differ statistically between the groups. Conclusions. We demonstrate an epigenetic mechanism of SOCS3 up-regulation in steroid resistant children with the nephrotic syndrome. The assessment of methylation/unmethylation of SOCS3 promoter might be an early marker for steroid responsiveness in NS patients.
Źródło:
Acta Biochimica Polonica; 2016, 63, 1; 131-138
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Single nucleotide polymorphism within arylsulfatase D gene (ARSD) is associated with selected kinematic parameters of sperm motility in Holstein-Friesian bulls
Autorzy:
Hering, D.
Lecewicz, M.
Kordan, W.
Kaminski, S.
Powiązania:
https://bibliotekanauki.pl/articles/30896.pdf
Data publikacji:
2014
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Opis:
The aim of the study was to find out whether the single nucleotide polymorphism (SNP) within arylsulfatase D (ARSD) gene is associated with kinematic parameters of sperm motility in Holstein- Friesian bulls. 367 Holstein-Friesian bulls kept in one AI center were included in the study. Point mutation C/T at position 139037255 on chromosome X (rs42207167) was identified by PCR-RFLP method (Pflm I). Significant associations were found between ARSD genotypes and CASA-derived sperm motility parameters: average TM (Total Motility), average VSL (Straight Velocity), average VCL (Curvilinear Velocity) and for fraction of sperms showing progressive motility (a) of sperms (VSLa, VCLa and BCFa -Beat Cross Frequency). Most significant differences were observed between alternative homozygotes (CC vs TT). Our results suggest new role of arylsulfatase D gene as being involved in sperm motility.
Źródło:
Polish Journal of Veterinary Sciences; 2014, 17, 3
1505-1773
Pojawia się w:
Polish Journal of Veterinary Sciences
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
The -2518 A/G MCP-1 polymorphism as a risk factor of inflammatory bowel disease
Autorzy:
Walczak, Anna
Przybyłowska, Karolina
Sygut, Andrzej
Dziki, Łukasz
Chojnacki, Cezary
Chojnacki, Jan
Dziki, Adam
Majsterek, Ireneusz
Powiązania:
https://bibliotekanauki.pl/articles/1394594.pdf
Data publikacji:
2012
Wydawca:
Index Copernicus International
Tematy:
single nucleotide polymorphism
MCP-1 gene
inflammatory bowel disease
Opis:
Inflammatory bowel diseases (IBD) are disorders originated from immune disturbances. The aim of the study was to evaluate the association between the -2518 A/G MCP-1 polymorphism and the risk of IBD development. Material and methods. Genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Study group consisted of 197 subjects with IBD (120 with ulcerative colitis and 77 with Crohn’s disease) as well as 210 healthy controls. Results. The presence of the -2518 G/G MCP-1 genotype in the investigated groups seems to be connected with higher risk of inflammatory bowel disease as well as Crohn’s disease only (OR 2.26; 95% CI 1.44-3.54 and OR 2.08; 95% CI 1.21-3.46, respectively). Conclusions. Our data showed that the -2518 A/G MCP-1 polymorphism might be associated with the IBD occurrence and might be used as predictive factor of these diseases in a Polish population.
Źródło:
Polish Journal of Surgery; 2012, 84, 5; 238-241
0032-373X
2299-2847
Pojawia się w:
Polish Journal of Surgery
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
SNP panel for evaluation of genetic variability and relationship in roe deer (Capreolus capreolus)
Autorzy:
Oleński, K.
Zalewski, D.
Kamiński, S.
Powiązania:
https://bibliotekanauki.pl/articles/16647455.pdf
Data publikacji:
2023
Wydawca:
Polska Akademia Nauk. Czasopisma i Monografie PAN
Tematy:
Capreolus capreolus
genetic diversity
roe deer
Single Nucleotide Polymorphism marker
Opis:
Blood samples from forty-six roe deer (Capreolus capreolus) acquired during officially approved hunting in six hunting divisions throughout Poland were used to isolate the genomic DNA. All individuals were genotyped by MD_Bovine BeadChip (Illumina) for 46.750 Single Nucleotide Polymorphism (SNP) markers. SNPs of inappropriate clusters, with a marker call rate lower than 90% and with a minor allele frequency (MAF) lower than 0.01, located on sex chromosomes and mitochondrial DNA, were removed. Altogether, 21.033 SNP markers were included for further analysis. Observed and expected heterozygosity amounted to 0.098 and 0.119, respectively. Among 21.033 markers, a panel of 148 SNPs were selected for relationship analysis. They were unlinked and had a MAF higher than 0.2. This set of SNPs showed a probability of parentage exclusion of 1.29x10 -6 and 2.37x10 -19 for one, and two known parents, respectively. The probability of identity was estimated at 1.8x10 -40. The probabilities obtained in this study are sufficient for the monitoring and effective management of the genetic diversity of roe deer in Poland and is a cost-effective complementary tool for forensic applications.
Źródło:
Polish Journal of Veterinary Sciences; 2023, 26, 1; 29-37
1505-1773
Pojawia się w:
Polish Journal of Veterinary Sciences
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Matrix metalloproteinase-2 C-1306T promoter polymorphism and breast cancer risk in the Saudi population
Autorzy:
Saeed, Hesham
Alanazi, Mohammad
Alshahrani, Omair
Parine, Narasimha
Alabdulkarim, Huda
Shalaby, Manal
Powiązania:
https://bibliotekanauki.pl/articles/1039541.pdf
Data publikacji:
2013
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
breast cancer
matrix metalloproteinases
single nucleotide polymorphism
TaqMan Allele Discrimination assay
Opis:
Matrix metalloproteinase-2 (MMP-2) is an enzyme with proteolytic activity against matrix proteins, particularly basement membrane constituents. A single nucleotide polymorphism (SNP) at -1306, which disrupts a Sp1-type promoter site (CCACC box), displayed a strikingly lower promoter activity with the T allele. In the present study, we investigate whether this MMP-2 SNP is associated with susceptibility to breast cancer in the Saudi population. Ninety breast cancer patients and 92 age matched controls were included in this study. TaqMan Allele Discrimination assay and DNA sequencing techniques were used for genotyping. The results showed that, the frequency of MMP-2 CC wild genotype was lower in breast cancer patients when compared with healthy controls (0.65 versus 0.79). The homozygous CC (OR=2, χ2=5.36, p=0.02) and heterozygous CT (OR=1.98, χ2=4.1, p=0.04) showing significantly high risk of breast cancer in the investigated group. In conclusion our data suggest that the MMP-2 C-1306T polymorphism may be associated with increased breast cancer risk in the Saudi population.
Źródło:
Acta Biochimica Polonica; 2013, 60, 3; 405-409
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Preliminary study to explore gene-$\text{PM}_\text{2.5}$ interactive effects on respiratory system in traffic policemen
Autorzy:
Zhao, Jinzhuo
Bo, Liang
Gong, Changyi
Cheng, Peng
Kan, Haidong
Xie, Yuquan
Song, Weimin
Powiązania:
https://bibliotekanauki.pl/articles/2177102.pdf
Data publikacji:
2015-08-07
Wydawca:
Instytut Medycyny Pracy im. prof. dra Jerzego Nofera w Łodzi
Tematy:
inflammation
Fine Particles
traffic workers
respiratory system
single nucleotide polymorphism
SNP
Opis:
Objectives Traffic-related particulate matter (PM) is one of the major sources of air pollution in metropolitan areas. This study is to observe the interactive effects of gene and fine particles (particles smaller than 2.5 μm – $\text{PM}_\text{2.5}$) on the respiratory system and explore the mechanisms linking $\text{PM}_\text{2.5}$ and pulmonary injury. Material and Methods The participants include 110 traffic policemen and 101 common populations in Shanghai, China. Continuous 24 h individual-level $\text{PM}_\text{2.5}$ is detected and the pulmonary function, high-sensitivity C-reactive protein (hs-CRP), Clara cell protein 16 (CC16) and the polymorphism in CXCL3, NME7 and C5 genes are determined. The multiple linear regression method is used to analyze the association between $\text{PM}_\text{2.5}$ and health effects. Meanwhile, the interactive effects of gene and $\text{PM}_\text{2.5}$ on lung function are analyzed. Results The individual $\text{PM}_\text{2.5}$ exposure for traffic policemen was higher than that in the common population whereas the forced expiratory volume in 1 s (FEV₁), the ratio of FEV₁ to forced vital capacity (FEV₁/FVC) and lymphocytes are lower. In contrast, the hs-CRP level is higher. In the adjusted analysis, $\text{PM}_\text{2.5}$ exposure was associated with the decrease in lymphocytes and the increase in hs-CRP. The allele frequencies for NME7 and C5 have significant differences between FEV₁/FVC ≤ 70% and FEV₁/FVC > 70% participants. The results didn’t find the interaction effects of gene and $\text{PM}_\text{2.5}$ on FEV₁/FVC in all the 3 genes. Conclusions The results indicated that traffic exposure to high levels of $\text{PM}_\text{2.5}$ was associated with systemic inflammatory response and respiratory injury. Traffic policemen represent a high risk group suffering from the respiratory injury.
Źródło:
International Journal of Occupational Medicine and Environmental Health; 2015, 28, 6; 971-983
1232-1087
1896-494X
Pojawia się w:
International Journal of Occupational Medicine and Environmental Health
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Computational study of ACE and AGT gene of RAAS pathway
Autorzy:
Nisha, Nisha
Kaur, Satbir
Kaur, Sumanpreet
Kumar, Sandeep
Galhna, Kiranjeet Kaur
Kaur, Kamaljeet
Powiązania:
https://bibliotekanauki.pl/articles/1112240.pdf
Data publikacji:
2018
Wydawca:
Przedsiębiorstwo Wydawnictw Naukowych Darwin / Scientific Publishing House DARWIN
Tematy:
Angiotensin converting enzyme
Angiotensinogen
Hypertension
Renin angiotensin aldosterone system
Single nucleotide polymorphism
Opis:
Renin angiotensin aldosterone system (RAAS) is a hormone regulatory hormone system that regulate blood pressure. The two major genes ACE and AGT are the players of RAAS pathway. These genes codes for angiotensin convertase enzyme and angiotensinogen protein respectively. The angiotensin convertase enzyme convert inactive angiotensinogen into active angiotensin which further helps in the regulation of blood pressure. Due to imbalance in this pathway may cause hypertension. So in the present study we decided to perform the computational study of ACE and AGT gene. We evaluated the deleterious/damaging effect of SNPs of ACE and AGT gene by SIFT and I-Mutant2.0. The total number of SNPs predicted to be deleterious by both tools were 5 (1.83%) and 22 (6.07%) for AGT and ACE genes respectively. We also studied subcellular location of ACE and AGT genes and drugs targeting these genes from database GeneCards. Further the result output of both the softwares were also compared.
Źródło:
World News of Natural Sciences; 2018, 19; 65-77
2543-5426
Pojawia się w:
World News of Natural Sciences
Dostawca treści:
Biblioteka Nauki
Artykuł
Wyświetlanie 1-10 z 33

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