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    Wyświetlanie 1-33 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
    Tytuł:
    Polymorphic variants of MIF gene and prognosis in steroid therapy in children with idiopathic nephrotic syndrome
    Autorzy:
    Świerczewska, Monika
    Ostalska-Nowicka, Danuta
    Kempisty, Bartosz
    Szczepankiewicz, Aleksandra
    Nowicki, Michał
    Powiązania:
    https://bibliotekanauki.pl/articles/1039333.pdf
    Data publikacji:
    2014
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    nephrotic syndrome
    steroid resistance
    MIF gene
    single nucleotide polymorphism
    short tandem repeat
    Opis:
    Nephrotic syndrome (NS) is the most common reason of proteinuria in children and can be caused by the pathology of renal glomeruli. Steroid therapy is typically used in this disorder. It has been shown that MIF is a cytokine which counteracts the immunosuppressive properties of glucocorticoids. The aim of this study was looking for a correlation between MIF polymorphisms and genetic susceptibility to steroid resistance in children with INS (Idiopathic NS). Methods: The study was performed in 71 patients with INS including SRNS (steroid resistance nephrotic syndrome) (41) and SSNS (steroid sensitive nephrotic syndrome) (30) and in 30 control subjects. We employed Sanger sequencing and capillary electrophoresis. Linkage disequilibrium was made using Haploview and PHASE. Results: We didn't observe a statistical significance between SNPs detected in patients with INS and controls. Our studies revealed statistical significance for two polymorphisms: rs2070767C > T and rs2000466T > G between patients with SRNS and SSNS. The results for rs34383331T > A are close to being statistically significant. Statistical significance was revealed for CATT5/CATT6 genotype in SRNS group vs SSNS group (OR=4.604, 95%CI=1.356-15.632, p=0.0168). We found that the frequency of 5/X-CATT genotype compared with X/X-CATT genotype was significantly higher in SRNS patients vs SSNS (OR=3.167, 95%CI=1.046-9.585, p=0.0426). In linkage disequilibrium analysis we didn't show involvement in susceptibility to INS and steroid sensitive phenotype. Conclusions: Our results suggest that the role of MIF polymorphisms in the susceptibility to positive response to steroid therapy is still unresolved. It indicates that MIF may be involved in indirect and complex molecular mechanisms of steroid activity in hormone-dependent metabolic pathways in children with INS. Because of ambiguous findings, pleiotropic features of this cytokine require that more research should be undertaken.
    Źródło:
    Acta Biochimica Polonica; 2014, 61, 1; 67-75
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Farmakogenetyczne uwarunkowania lekooporności w padaczce
    Pharmacogenetic determinants of drug resistance in epilepsy
    Autorzy:
    Kozera-Kępniak, Alicja
    Jastrzębski, Karol
    Klimek, Andrzej
    Powiązania:
    https://bibliotekanauki.pl/articles/1053516.pdf
    Data publikacji:
    2013
    Wydawca:
    Medical Communications
    Tematy:
    cytochrome P450
    drug transporter proteins
    drug-resistant epilepsy
    farmakogenetyka
    pharmacogenetics
    single nucleotide polymorphism – SNP
    padaczka lekooporna
    cytochrom p450
    białka transportujące leki
    polimorfizm
    polimorfizm pojedynczych nukleotydów (single nucleotide polymorphism snp)
    Opis:
    Epilepsy is one of the most common CNS disorders occurring in approximately 1% of the world population. It is characterized by the occurrence of recurrent attacks of varying symptomatology. It is estimated that 30% of patients, despite the appropriate antiepileptic treatment, still experiencing seizures. In this case we are dealing with so-called the phenomenon of drug resistance. In Poland, this problem concerns about 100–120 thousand patients. Predisposing factors for epilepsy include: onset of symptoms before 1 year of age, high frequency of seizures before treatment and structural changes of the brain, including cortical malformations. Uncontrolled seizures affect the patients quality of life, increasing the risk of injury, affecting the physical well-being and psychosocial functioning. Despite knowing these presumable risk factors for epilepsy, it remains unknown why in the two patients with the same type of epilepsy or the same type of seizure, efficacy of antiepileptic drugs can be extremely different. Potential reasons for this may be genetic factors, changing the pharmacodynamic and pharmacokinetic attributes of antiepileptic drugs. Among these factors is mentioned genetically determined polymorphism of some microsomal enzymes (CYP2C9, CYP2C19), P-glycoprotein, a protein MRP (multidrug resistance-associated protein) and pharmacodynamic malfunction of GABA (GABAA) and ion channels. It seems that research on the mechanisms of drug resistance may lead to the introduction of new therapeutic strategies This article aims to show the impact of genetic factors to the lack of treatment efficacy in epilepsy.
    Padaczka jest jedną z najczęstszych chorób ośrodkowego układu nerwowego, występującą u około 1% populacji na świecie. Charakteryzuje się występowaniem nawracających napadów o różnej symptomatologii. Szacuje się, że u 30% pacjentów mimo prowadzonego właściwego leczenia przeciwpadaczkowego nadal występują napady drgawkowe. Jest to tak zwane zjawisko lekooporności. W Polsce problem ten dotyczy około 100 000–120 000 chorych. Czynnikami predysponującymi do wystąpienia padaczki lekoopornej są: ujawnienie się choroby przed 1. rokiem życia, duża częstotliwość napadów przed rozpoczęciem leczenia oraz zmiany strukturalne mózgu, w tym wady rozwojowe kory mózgowej. Niekontrolowane napady padaczkowe pogarszają jakość życia chorych, zwiększając ryzyko urazów, wpływając negatywnie na samopoczucie fizyczne oraz funkcjonowanie psychospołeczne. Chociaż znane są potencjalne czynniki ryzyka, to nadal nie wiadomo, dlaczego u dwóch pacjentów z tym samym rodzajem padaczki lub tym samym typem napadów skuteczność leczenia lekami przeciwpadaczkowymi może być skrajnie różna. Wśród możliwych przyczyn tego zjawiska wymienia się czynniki genetyczne, zmieniające właściwości farmakodynamiczne i farmakokinetyczne stosowanych leków. Do grupy tych czynników zalicza się: genetycznie uwarunkowany polimorfizm niektórych enzymów mikrosomalnych (CYP2C9, CYP2C19), glikoproteiny P, białka MRP (multidrug resistance-associated protein) oraz zaburzenia funkcji farmakodynamicznych receptorów GABA (GABAA) i kanałów jonowych. Wydaje się, że badania nad mechanizmami lekooporności mogą skutkować wprowadzeniem nowych strategii terapeutycznych. Niniejszy artykuł ma na celu przedstawienie wpływu powyżej wymienionych czynników genetycznych na brak skuteczności leczenia w padaczce.
    Źródło:
    Aktualności Neurologiczne; 2013, 13, 2; 96-102
    1641-9227
    2451-0696
    Pojawia się w:
    Aktualności Neurologiczne
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    A comprehensive in silico prediction of the most deleterious missense variants in the bovine LEP gene
    Autorzy:
    Al-Shuhaib, M.B.S.
    Powiązania:
    https://bibliotekanauki.pl/articles/80824.pdf
    Data publikacji:
    2019
    Wydawca:
    Polska Akademia Nauk. Czytelnia Czasopism PAN
    Tematy:
    LEP gene
    leptin
    biological activity
    bovine gene
    single nucleotide polymorphism
    coding sequence
    cattle
    Źródło:
    BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology; 2019, 100, 4
    0860-7796
    Pojawia się w:
    BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Association between UBE2E2 variant rs7612463 and type 2 diabetes mellitus in a Chinese Han Population
    Autorzy:
    Kazakova, Elena
    Wu, Yanhui
    Zhou, Zhongyu
    Chen, Meijun
    Wang, Tongtong
    Tong, Huixin
    Zhuang, Tianwei
    Sun, Lulu
    Qiao, Hong
    Powiązania:
    https://bibliotekanauki.pl/articles/1039098.pdf
    Data publikacji:
    2015
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    Type 2 diabetes mellitus
    UBE2E2
    rs7612463
    Single nucleotide polymorphism
    SNPscan
    Opis:
    UBE2E2 encodes ubiquitin-conjugating enzyme E2E2, which plays an important role in the synthesis and secretion of insulin. Two previous studies indicated that SNPs in UBE2E2 were associated with risk for type 2 diabetes mellitus (T2DM) in the Japanese and Korean populations, respectively. We examined the association of one SNP in this gene, rs7612463, with the risk of T2DM in 1957 Han participants in northeastern China, using an SNPscanTM Kit. rs7612463 genotype was significantly associated with risk for T2DM under various genetic models, including an additive model (P = 0.004), a dominant model (P = 0.024), and a recessive model (P = 0.008). The AA genotype was associated with a significantly decreased risk for T2DM (P = 0.004, OR = 0.513, 95% CI = 0.325-0.810) after adjustment for age, gender, and BMI. The heterozygous genotype, AC, was associated with increased risk for total cholesterol (mmol l-1; P = 0.031) and triglycerides (mmol l-1; P = 0.039) in control individuals. Our results show that rs7612463 is associated with T2DM, with homozygotes of the AA genotype at decreased risk for T2DM in the Chinese population. Additionally, heterozygotes may have decreased risk of T2DM due to insulin resistance.
    Źródło:
    Acta Biochimica Polonica; 2015, 62, 2; 241-245
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    CTLA-4 polymorphisms (+49 A/G and -318 C/T) are important genetic determinants of AITD susceptibility and predisposition to high levels of thyroid autoantibodies in Polish children - preliminary study
    Autorzy:
    Pastuszak-Lewandoska, Dorota
    Domańska, Daria
    Rudzińska, Magdalena
    Bossowski, Artur
    Kucharska, Anna
    Sewerynek, Ewa
    Czarnecka, Karolina
    Migdalska-Sęk, Monika
    Czarnocka, Barbara
    Powiązania:
    https://bibliotekanauki.pl/articles/1039459.pdf
    Data publikacji:
    2013
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    Graves' disease
    Hashimoto's thyroiditis
    autoimmune thyroid disease
    CTLA-4
    single nucleotide polymorphism
    TAb production
    Opis:
    Autoimmune thyroid diseases (AITDs), including Hashimoto' s thyroiditis (HT) and Graves' disease (GD), are related to environmental and genetic factors. We analyzed the association of cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) gene two polymorphisms (+49 A/G, -318 C/T) with HT and GD development in Polish children, and correlated both polymorphisms with the production of thyroid autoantibodies (TPOAb and TgAb). The study involved 49 AITD patients (age 10-19) with HT (n=25) or GD (n=24) and 69 healthy controls. SNP genotyping was performed using genomic DNA and TaqMan® probes. The obtained results indicated that CTLA-4 +49 GG genotype was significantly more frequent in both HT and GD patients, whereas the AA genotype was more common in controls. CTLA-4-318 CT genotype was significantly more frequent in AITD, and the CC genotype more often occurred in controls. Significantly higher median TPOAb and TgAb values were associated with G allele in HT, and with T allele in GD patients. Concluding, both studied polymorphisms seem to be important genetic determinants of the risk of HT and GD, and appear to be associated with a predisposition to high levels of TAbs and clinical AITD. The obtained results give more information on the distribution of the CTLA-4 polymorphism in Polish AITD children, and further support the proposal that the CTLA-4 gene plays an important role in a TAb production.
    Źródło:
    Acta Biochimica Polonica; 2013, 60, 4; 641-646
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Joint effect of N-acetyltransferase 2 gene and smoking status on bladder carcinogenesis in Algerian population
    Autorzy:
    Ribouh-Arras, A.
    Chaoui-Kherouatou, N.
    Hireche, A.
    Abadi, N.
    Satta, D.
    Powiązania:
    https://bibliotekanauki.pl/articles/80202.pdf
    Data publikacji:
    2019
    Wydawca:
    Polska Akademia Nauk. Czytelnia Czasopism PAN
    Tematy:
    N-acetyltransferase 2 gene
    genetic polymorphism
    malignancy
    bladder cancer
    single nucleotide polymorphism
    phenotype
    smoking
    Algerian population
    Źródło:
    BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology; 2019, 100, 2
    0860-7796
    Pojawia się w:
    BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Prediction of indels and SNP’s in coding regions of glutathione peroxidases - an important enzyme in redox homeostasis of plants
    Autorzy:
    Ganguli, S.
    Datta, A.
    Powiązania:
    https://bibliotekanauki.pl/articles/11303.pdf
    Data publikacji:
    2014
    Wydawca:
    Przedsiębiorstwo Wydawnictw Naukowych Darwin / Scientific Publishing House DARWIN
    Tematy:
    prediction
    indel
    single nucleotide polymorphism
    coding region
    glutathione peroxidase
    enzyme
    redox
    homeostasis
    plant
    genotype
    stress tolerance
    Opis:
    Plant glutathione peroxidases are an important class of enzymes which play key roles in the stress adaptability of plants both in context of biotic and abiotic stress pathways. They have been over the years much studied in animals since the catalytic residues are comprised of selenocysteine a variant amino acid which is ribosomally encoded with the help of an RNA structural element known as SECIS. Various workers over the years have shown that plant glutathione peroxidases play active roles in ROS sequestration, lipid hydroperoxidation as well as regulate glutathione levels. However, each plant has various patterns of glutathione peroxidase expression and action and in some plants certain isoforms have not been detected at all. This work focuses on the prediction and identification of single nucleotide polymorphisms (SNPs) and INDELs in the coding regions of plant glutathione peroxidases, with the help of a Bayesian based algorithm subsequently validated. A large number of informative sites were detected 279 of which had variant frequency of ≥ 50 %. This data should be beneficial for future studies involving genetic manipulation and population based breeding experiments.
    Źródło:
    International Letters of Natural Sciences; 2014, 02
    2300-9675
    Pojawia się w:
    International Letters of Natural Sciences
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Genetic diversity in Vernonia amygdalina Delile accessions revealed by random amplified polymorphic DNAs (RAPDs)
    Autorzy:
    Aikpokpodion, P.
    Abebe, J.
    Igwe, D.
    Powiązania:
    https://bibliotekanauki.pl/articles/79809.pdf
    Data publikacji:
    2018
    Wydawca:
    Polska Akademia Nauk. Czytelnia Czasopism PAN
    Tematy:
    genetic diversity
    Vernonia amygdalina
    random amplified polymorphic DNA
    polymorphism
    molecular characteristics
    single-nucleotide polymorphism
    geographic differentiation
    Źródło:
    BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology; 2018, 99, 2
    0860-7796
    Pojawia się w:
    BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Identification of single nucleotide polymorphism within bactencin-5 and bactencin-7 coding genes in association with milk production traits
    Identyfikacja polimorfizmów pojedynczego nukleotydu w obrębie genów kodujujących baktencynę-5 i baktencynę-7 w powiązaniu z cechami produkcji mleka
    Autorzy:
    Hiller, S.
    Kowalewska, I.
    Powiązania:
    https://bibliotekanauki.pl/articles/29433590.pdf
    Data publikacji:
    2022
    Wydawca:
    Zachodniopomorski Uniwersytet Technologiczny w Szczecinie. Wydawnictwo Uczelniane ZUT w Szczecinie
    Tematy:
    bactensins
    bactencin-5
    bactencin-7
    coding gene
    CATHL2
    CATHL3
    dairy cattle
    single-nucleotide polymorphism
    Źródło:
    Acta Scientiarum Polonorum. Zootechnica; 2022, 21, 4; 17-22
    1644-0714
    Pojawia się w:
    Acta Scientiarum Polonorum. Zootechnica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Detection of SNPs based on DNA specific-locus amplified fragment sequencing in Chinese fir (Cunninghamia lanceolata (Lamb.) Hook)
    Autorzy:
    Su, Y.
    Hu, D.
    Zheng, H.
    Powiązania:
    https://bibliotekanauki.pl/articles/41243.pdf
    Data publikacji:
    2016
    Wydawca:
    Polska Akademia Nauk. Instytut Dendrologii PAN
    Tematy:
    detection
    single nucleotide polymorphism
    DNA specific-locus amplified fragment sequencing
    fir
    Chinese fir
    Cunninghamia lanceolata
    genotyping
    Opis:
    Compared to angiosperms, conifers represent more complex genomes with larger giga-genome size. To detect large-scale single nucleotide polymorphisms (SNPs), whole genome sequencing of a conifer population is still unaffordable. In this work, we report the use of DNA specific-locus amplified fragment sequencing (SLAF-seq) for large-scale SNP detection in Chinese fir (Cunninghamia lanceolata (Lamb.) Hook), an ecological and economic important conifer in China. SLAF libraries of 18 parent clones of a Chinese fir 2.5 generation seed orchard were sequenced and a total of 117,924 SLAFs were developed. We detected 147,376 SNPs from these SLAFs; 146,231 of them represented simple nucleotide change in A/G, C/T, A/C, A/T, C/G or G/T. The most frequent SNPs occurred in C/T (34.3%), while the majority of SNPs (68.2%) belonged to transition events (A/G and C/T). Notably, all the sequenced samples had high portion (78.2–80.9%) of common SNPs indicating that the Chinese fir genomes tended to change its nucleotides at common loci. 48,406 informative SNPs were then successfully utilized to genotype the tested samples (n = 18) followed by a phylogenetic tree to clarify their genetic relationship. Furthermore, a set of very high linkage disequilibrium (0.51–1.00) were identified from these informative SNPs. In brief, our work demonstrated that SLAF-seq is an alternative and cost-effectively high-throughput approach for large-scale SNP exploitation in Chinese fir. While the obtained SNPs offer useful marker resource for further genetic and genomic studies and will be helpful for Chinese fir breeding programs.
    Źródło:
    Dendrobiology; 2016, 76
    1641-1307
    Pojawia się w:
    Dendrobiology
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Molecular identification of blast resistance genes in rice genotypes using gene-specific markers
    Autorzy:
    Al-Daej, M.I.
    Ismail, M.
    Rezk, A.A.
    El-Malky, M.M.
    Powiązania:
    https://bibliotekanauki.pl/articles/80189.pdf
    Data publikacji:
    2019
    Wydawca:
    Polska Akademia Nauk. Czytelnia Czasopism PAN
    Tematy:
    molecular identification
    resistance gene
    rice genotype
    Oryza sativa
    DNA marker
    single-nucleotide polymorphism
    simple sequence repeat
    Źródło:
    BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology; 2019, 100, 3
    0860-7796
    Pojawia się w:
    BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    The mRNA sequence polymorphisms of flowering key genes in bolting sensitive or tolerant sugar beet genotypes
    Autorzy:
    Alimirzaee, M.
    Mirzaie-Asl, A.
    Abdollahi, M.R.
    Kolaei, H.E.
    Fasahat, P.
    Powiązania:
    https://bibliotekanauki.pl/articles/79841.pdf
    Data publikacji:
    2017
    Wydawca:
    Polska Akademia Nauk. Czytelnia Czasopism PAN
    Tematy:
    sugar-beet
    Beta vulgaris ssp.maritima
    mRNA
    polymorphism
    flowering
    single nucleotide polymorphism
    genetic control
    RNA extraction
    protein structure prediction
    Źródło:
    BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology; 2017, 98, 3
    0860-7796
    Pojawia się w:
    BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Czy „cichy” polimorfizm pojedynczego nukleotydu (SNP) C1236T genu ABCB1 jest związany z predyspozycją do rozwoju depresji i skutecznością jej leczenia? - badanie wstępne
    Is the „silent” single nucleotide polymorphism (SNP) C1236T of ABCB1 gene associated with predisposition to depression development and efficiency of therapy? – preliminary study
    Autorzy:
    Jeleń, Agnieszka
    Koziróg, Anna
    Sałagacka, Aleksandra
    Balcerczak, Ewa
    Talarowska, Monika
    Gałecki, Piotr
    Powiązania:
    https://bibliotekanauki.pl/articles/1032546.pdf
    Data publikacji:
    2014
    Wydawca:
    Łódzkie Towarzystwo Naukowe
    Tematy:
    abcb1
    polimorfizm pojedynczego nukleotydu
    c1236t
    glikoproteina p
    depresja
    farmakogenomika
    podatność
    single nucleotide polymorphism
    p-glycoprotein
    depression
    pharmacogenomics
    susceptibility
    Opis:
    Introduction: According to the World Health Organization about 350 million people around the world are affected by depression. Despite the high prevalence of this disease the mechanism of depression origination as well as the causes of the resistance to therapy are still not fully understood. ABCB1 gene encode P glycoprotein which is one of the components of blood-brain barrier. The main function of this protein is the efflux of many toxic compounds, including drugs, which may indicate potential association between the proper functioning of P glycoprotein and the susceptibility to the development of depressive disorders or the failure of antidepressant therapy. The objective of this study was to evaluate single nucleotide polymorphism (SNP) C1236T of the ABCB1 gene in the group of patients with recurrent depressive disorder (rDD) and to estimate the possible association of this polymorphism with the response to antidepressant therapy. Material and methods: C1236T was evaluated in 30 patients with rDD. Genotyping was performed using automated sequencing (the Sanger method). The results were compared with those obtained from the control group which consisted of 96 blood donors from the local blood bank. Results: No statistically significant difference in the frequency of genotypes (p=0.0665) and allele (p=0.1489) for the SNP C1236T of ABCB1 gene was found between the patients with rDD and the control group. No correlation between C1236 and the age when the disease was stated (p=0.0807). Neither the association between genotypes and the severity of depressive symptoms before treatment (p=0.7956) nor the association with effectiveness of the therapy (p=0.2051) were found. Conclusions: On the basis of the results of the preliminary study, C1236T of ABCB1 gene have no influence on the predisposition to rDD, the severity of depressive symptoms and the efficiency of antidepressant therapy have not been stated, either.
    Streszczenie Wstęp: Według danych Światowej Organizacji Zdrowia depresja dotyka około 350 milionów osób na całym świecie. Jednak pomimo powszechnego występowania, zarówno etiologia tej choroby, jak i przyczyny oporności na leczenie w dalszym ciągu nie są w pełni poznane. Gen ABCB1 koduje glikoproteinę P, która jest jednym z elementów bariery krew-mózg. Główną funkcją białka jest usuwanie związków toksycznych, w tym także leków, co może wskazywać na potencjalny związek między prawidłowym działaniem glikoproteiny P a predyspozycją do rozwoju zaburzeń depresyjnych czy niepowodzeniem terapii lekami przeciwdepresyjnymi. Celem pracy była ocena polimorfizmu pojedynczego nukleotydu (ang. single nucleotide polymorphism - SNP) C1236T genu ABCB1 wśród chorych na zaburzenia depresyjne nawracające (ang. recurrent depressive disorder - rDD) oraz oszacowanie potencjalnego związku tego polimorfizmu z odpowiedzią na terapię lekami przeciwdepresyjnymi. Materiał i metody: Polimorfizm C1236T oceniono w grupie 30 pacjentów, u których zdiagnozowano rDD. Genotyp określono wykorzystując technikę automatycznego sekwencjonowania metodą Sangera. Otrzymane wyniki porównano z wynikami grupy kontrolnej, którą stanowiło 96 dawców krwi z lokalnego banku krwiodawstwa. Wyniki: Nie stwierdzono istotnych statystycznie różnic w częstości występowania poszczególnych genotypów (p=0,0665) i alleli (p=0,1489) polimorfizmu C1236T genu ABCB1 między grupą pacjentów z rDD a grupą kontrolną. Nie wykazano również zależności pomiędzy C1236T a wiekiem w chwili diagnozy rDD (p=0,0807), nasileniem objawów depresji przed rozpoczęciem terapii (p=0,7956) czy skutecznością leczenia przeciwdepresyjnego (p=0,2051). Wnioski: Na podstawie wyników badania wstępnego, stwierdzono brak wpływu polimorfizmu C1236T genu ABCB1 na predyspozycję do rozwoju rDD, nasilenie objawów depresji w chwili diagnozy czy skuteczność terapii przeciwdepresyjnej.
    Źródło:
    Folia Medica Lodziensia; 2014, 41, 1; 5-15
    0071-6731
    Pojawia się w:
    Folia Medica Lodziensia
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Association between polymorphisms in CHRNA3 and PHACTR2 gene and environment and NSCLC risk in Chinese population
    Autorzy:
    Lou, Guangyuan
    Zhang, Yongjun
    Bao, Wenlong
    Deng, Dehou
    Powiązania:
    https://bibliotekanauki.pl/articles/1039210.pdf
    Data publikacji:
    2014
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    Non-small cell lung cancer
    phosphatase and actin regulator 2 (PHACTR2)
    cholinergic receptor
    nicotinic
    alpha 3 (CHRNA3)
    single-nucleotide polymorphism
    Opis:
    Aims. This study aimed to investigate CHRNA3 (rs8040868) and PHACTR2 (rs9390123) single-nucleotide polymorphisms (SNPs) for association with non-small-cell lung cancer (NSCLC) risk in a Chinese population, and whether the environment affects the genetic polymorphisms. Methods. This case and control study included 500 NSCLC patients and 500 age-matched healthy controls. CHRNA3 (rs8040868) and PHACTR2 (rs9390123) SNPs were genotyped and associated for NSCLC risk by computing the odds ratio and 95% confidence interval from multivariate unconditional logistic regression analyses with adjustment of age. Results. The minor allele frequency (MAF) of CHRNA3 (rs8040868) and PHACTR2 (rs9390123) was 0.350 (C) and 0.397 (C), respectively. The frequencies of genotype and allele in CHRNA3 (rs8040868) and PHACTR2 (rs9390123) were not significantly different between the cases and controls, or between either of the subgroups. Conclusion. Although rs8040868 and rs9390123 SNPs are not associated with NSCLC risk in Chinese population, the results strongly suggest that geographical agents interact with human genetic polymorphism independent of ethnic background.
    Źródło:
    Acta Biochimica Polonica; 2014, 61, 4; 765-768
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Różnice genetyczne i psychologiczne w percepcji bólu u zawodników sportów walki
    Genetic and psychological differences in pain perception in martial arts athletes
    Autorzy:
    Leźnicka, K.
    Pierzchlińska, A.
    Starkowska, A.
    Machoy-Mokrzyńska, A.
    Białecka, M.
    Powiązania:
    https://bibliotekanauki.pl/articles/135816.pdf
    Data publikacji:
    2017
    Wydawca:
    Wyższa Szkoła Techniczno-Ekonomiczna w Szczecinie
    Tematy:
    percepcja bólu
    próg bólu
    tolerancja na ból
    sportowcy
    polimorfizm pojedynczego nukleotydu
    stres
    metody radzenia sobie ze stresem
    temperament
    pain perception
    pain threshold
    pain tolerance
    athletes
    single nucleotide polymorphism
    stress coping methods
    Opis:
    Wstęp i cel: Wielu autorów podkreśla fakt zmniejszonego progu bólowego, a także tolerancji na ból u sportowców. Wciąż jednak nie wiadomo, w jakim stopniu mają w tym udział czynniki genetyczne, a w jakim psychologiczne i psychospołeczne. Celem niniejszej pracy jest przedstawienie możliwych mechanizmów wpływających na różnice w percepcji bólu. Materiał i metody: Na podstawie dostępnego piśmiennictwa autorzy opisali metody pomiaru natężenia bólu oraz przedstawili możliwe źródła różnic w percepcji bólu u zawodników sportów walki w stosunku do osób nieuprawiających zawodowo sportu. Wyniki: Opracowano poszczególne czynniki mogące wpływać na percepcję bólu u sportowców. Wniosek: Mimo braku różnic genetycznych w polimorfizmach pojedynczych nukleotydów genów OPRM1 i COMT, zanotowano istotne różnice w metodach radzenia sobie ze stresem oraz w natężeniu cech temperamentu między zawodnikami sportów walki a grupami kontrolnymi. Prawdopodobne, że cechy temperamentu wpływają na wypracowanie określonych strategii radzenia sobie z bólem.
    Introduction and aim: Many authors emphasise lower pain threshold and pain tolerance among athletes. Though, it is not known to what degree genetic, psychological and psychosocial factors are involved. The aim of this paper is to present possible mechanisms affecting the differences in pain perception. Material and methods: On the grounds of the available literature, the authors describe the pain measure methods and present the possible source of the pain perception differences in martial arts athletes compared to non-athletes. Results: Several factors likely to be involved in pain perception among athletes has been elaborated. Conclusion: Although, there have been no differences in single nucleotide polymorphisms in genes OPRM1 and COMT, significant differences in stress coping strategies and temperament traits between martial arts athletes and control groups have been found. Presumably, temperament traits influence the development of particular pain coping strategies.
    Źródło:
    Problemy Nauk Stosowanych; 2017, 7; 183-190
    2300-6110
    Pojawia się w:
    Problemy Nauk Stosowanych
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Doubled haploids as a material for biotechnological manipulation and as a modern tool for breeding oilseed rape (Brassica napus L.)
    Autorzy:
    Cegielska-Taras, T.
    Szala, L.
    Matuszczak, M.
    Babula-Skowronska, D.
    Mikolajczyk, K.
    Poplawska, W.
    Sosnowska, K.
    Hernacki, B.
    Olejnik, A.
    Bartkowiak-Broda, I.
    Powiązania:
    https://bibliotekanauki.pl/articles/80477.pdf
    Data publikacji:
    2015
    Wydawca:
    Polska Akademia Nauk. Czytelnia Czasopism PAN
    Tematy:
    Brassica napus
    oilseed rape
    doubled haploid
    marker-assisted selection
    gene mapping
    transformation
    breeding
    amplified fragment length polymorphism
    random amplified polymorphic DNA
    restriction fragment length polymorphism
    recombinant inbred line
    single nucleotide polymorphism
    Źródło:
    BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology; 2015, 96, 1
    0860-7796
    Pojawia się w:
    BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Association of the DIO2 gene single nucleotide polymorphisms with recurrent depressive disorder
    Autorzy:
    Gałecka, Elżbieta
    Talarowska, Monika
    Orzechowska, Agata
    Górski, Paweł
    Bieńkiewicz, Małgorzata
    Szemraj, Janusz
    Powiązania:
    https://bibliotekanauki.pl/articles/1039107.pdf
    Data publikacji:
    2015
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    depressive disorder
    iodothyronine deiodinase type II
    polymorphism
    haplotype
    Opis:
    Genetic factors may play a role in the etiology of depressive disorder. The type 2 iodothyronine deiodinase gene (DIO2) encoding the enzyme catalyzing the conversion of T4 to T3 is suggested to play a role in the recurrent depressive disorder (rDD). The current study investigates whether a specific single nucleotide polymorphism (SNP) of the DIO2 gene, Thr92Ala (T/C); rs 225014 or ORFa-Gly3Asp (C/T); rs 12885300, correlate with the risk for recurrent depression. Genotypes for these two single nucleotide polymorphisms (SNPs) were determined in 179 patients meeting the ICD-10 criteria for rDD group and in 152 healthy individuals (control group) using a polymerase chain reaction (PCR) based method. The specific variant of the DIO2 gene, namely the CC genotype of the Thr92Ala polymorphism, was more frequently found in healthy subjects than in patients with depression, what suggests that it could potentially serve as a marker of a lower risk for recurrent depressive disorder. The distribution of four haplotypes was also significantly different between the two study groups with the TC (Thr-Gly) haplotype more frequently detected in patients with depression. In conclusion, data generated from this study suggest for the first time that DIO2 gene may play a role in the etiology of the disease, and thus should be further investigated.
    Źródło:
    Acta Biochimica Polonica; 2015, 62, 2; 297-302
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Application of polymerase chain reaction-restriction fragment length polymorphism (RFLP-PCR) in the analysis of single nucleotide polymorphisms (SNPs)
    Autorzy:
    Tarach, Piotr
    Powiązania:
    https://bibliotekanauki.pl/articles/1830648.pdf
    Data publikacji:
    2021-09-29
    Wydawca:
    Uniwersytet Łódzki. Wydawnictwo Uniwersytetu Łódzkiego
    Tematy:
    nucleotide polymorphisms
    DNA analysis
    polymerase chain reaction
    Opis:
    Polymerase chain reaction-restriction fragment length polymorphism (RFLP-PCR) is a technique used to identify single nucleotide polymorphisms (SNPs) based on the recognition of restriction sites by restriction enzymes. RFLP-PCR is an easy-to-perform and inexpensive tool for initial analysis of SNPs potentially associated with some monogenic diseases, as well as in genotyping, genetic mapping, lineage screening, forensics and ancient DNA analysis. The RFLP-PCR method employs four steps: (1) isolation of genetic material and PCR; (2) restriction digestion of amplicons; (3) electrophoresis of digested fragments; and (4) visualisation. Despite its obsolescence and the presence of high-throughput DNA analysis techniques, it is still applied in the analysis of SNPs associated with disease entities and in the analysis of genetic variation of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). RFLP-PCR is a low-cost and low-throughput research method allowing for the analysis of SNPs in the absence of specialised equipment, and it is useful when there is a limited budget.
    Źródło:
    Acta Universitatis Lodziensis. Folia Biologica et Oecologica; 2021, 17; 48-53
    1730-2366
    2083-8484
    Pojawia się w:
    Acta Universitatis Lodziensis. Folia Biologica et Oecologica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Genetic diversity in populations of Slovak Spotted cattle based on single nucleotide polymorphisms analyses
    Autorzy:
    Moravčíková, Nina
    Trakovická, Anna
    Navrátilová, Alica
    Powiązania:
    https://bibliotekanauki.pl/articles/1039494.pdf
    Data publikacji:
    2013
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    cattle
    growth hormone
    leptin
    leptin receptor
    polymorphism
    Opis:
    The aim of this study was to identify SNPs in leptin (LEP), leptin receptor (LEPR) and growth hormone (GH) genes in order to analyze genetic diversity of Slovak Spotted cattle. The total numbers of blood samples were taken from 353 Slovak Spotted cows originating from four farms. Genomic DNA was isolated by phenol-chloroform extraction method and analyzed by PCR-RFLP method. After digestion with restriction, enzymes were detected in whole population of cow's alleles with frequency: LEP/Sau3AI A 0.84 and B 0.16 (±0.0152); LEPR/BseGI C 0.95 and T 0.05 (±0.0089) and GH/AluI L 0.70 and V 0.30 (±0.0188). Based on the observed vs. expected genotypes frequencies populations across loci were in Hardy-Weinberg equilibrium (P\>0.05). Predominant for SNP LEP/Sau3AI was AA genotype (0.70), for SNP LEPR/T945M CC genotype (0.91), and LL genotype (0.48) was most frequent for SNP GH/AluI. The observed heterozygosity of SNPs across populations was also transferred to the low or median polymorphic information content 0.24 (He 0.28), 0.08 (He 0.09) and 0.33 (He 0.47) for LEP, LEPR and GH genes, respectively. Within genetic variability estimating negative values of fixation indexes FIS (-0.09-0.05) and FIT (-0.07-0.03) indicating heterozygote excess were observed. The value of FST indexes (0.018-0.023) shows very low levels of genetic differentiation in allele frequencies of loci among evaluated subpopulations. The low values of genetic distances (0.0018-0.0159) indicated high genetic relatedness among animals in subpopulations caused probably by common ancestry used in breeding program at farms.
    Źródło:
    Acta Biochimica Polonica; 2013, 60, 4; 807-810
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Selekcja genomowa w hodowli drzew leśnych - podstawowe założenia, problemy i perspektywy
    Genomic selection in forest tree breeding - basic principles, problems and future prospects
    Autorzy:
    Żukowska, W.B.
    Wójkiewicz, B.
    Lewandowski, A.
    Powiązania:
    https://bibliotekanauki.pl/articles/978931.pdf
    Data publikacji:
    2020
    Wydawca:
    Polskie Towarzystwo Leśne
    Tematy:
    breeding value
    genetic gain
    genetic markers
    marker−assisted selection
    quantitative trait locus
    single
    nucleotide polymorphism
    Opis:
    All tree breeders cope with the same challenge of the very long time interval of a single breeding cycle. What is more, trees are long−lived, with desirable breeding traits expressing late during their life cycle. Increasing problems with climate change, globalization or economic growth have forced us to accelerate tree breeding and improve selection precision, both of which can be achieved by genomic selection (GS). The idea of GS was introduced nearly 20 years ago as an extension of marker−assisted selection (MAS) in order to advance breeding technologies using genetic markers. Unlike MAS, which exploits only a set of marker−trait associations, GS relies on a high number of genetic markers that are spread throughout the entire length of the genome. All markers effects are assessed simultaneously in order to build a precise model that allows prediction of genetic estimated breeding value of a particular individual using genetic data only. GS has already revolutionized dairy cattle breeding resulting in remarkable improvements across multiple traits and is becoming more and more common in crop production. We now know that genetic architecture of quantitative traits is complex, but recent advances in genomics have made it possible to deal with this problem in an unprecedented way. There are certain concerns regarding GS in forest tree species that include genotype−environment (G×E) interaction and the usefulness of the predictive model built up by GS in the next generation of trees. Nevertheless, experimental results obtained so far have shown that the genetic gain per unit time as well as selection precision can be substantially increased. Here we present the basic principles of GS for forest tree species, giving examples of studies carried out so far and discussing problems and future possibilities that GS may soon open up for forest tree breeders.
    Źródło:
    Sylwan; 2020, 164, 05; 384-391
    0039-7660
    Pojawia się w:
    Sylwan
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Analysis of the association between rs12917707 and rs11864909 single nucleotide polymorphisms in the region of the uromoduline gene and chronic kidney disease - a family-based study
    Autorzy:
    Żywiec, Joanna
    Kiliś-Pstrusińska, Katarzyna
    Tomaszewski, Maciej
    Grzeszczak, Władysław
    Powiązania:
    https://bibliotekanauki.pl/articles/990841.pdf
    Data publikacji:
    2017
    Wydawca:
    Instytut Medycyny Wsi
    Tematy:
    chronic kidney disease
    genetic association
    family-based study
    umod polymorphism
    Opis:
    Chronic kidney disease (CKD) is an important challange for healthcare systems wordwide because of its high prevalence and serious late complications. The results of recent studies suggest an association between CKD development and genetic variation within the uromodulin gene (UMOD). The aim of this study was to investigate associations between two common single nucleotide polymorphisms – rs12917707 and rs11864909, located in the region of UMOD and chronic renal disease. The study group consisted of 109 patients with chronic kidney disease, caused by chronic renal glomerulonephritis or chronic tubulointerstitial nephritis, and 109 pairs of their biological parents. Genotyping for rs12917707 and rs11864909 was carried out using the TaqMan Pre-designed SNP Genotyping Assay. In the transsmission disequilibrium test, allele C of rs11864909 was preferentialy transmitted from parents to the children with chronic tubulointerstinal nephritis. The rs12917707 was not associated with CKD. Neither of the investigated polymorphisms was associated with the progression of chronic kidney disease. The obtained results suggest an association of rs11864909 with chronic kidney disease secondary to chronic tubulointerstinal nephritis.
    Źródło:
    Annals of Agricultural and Environmental Medicine; 2017, 24, 3
    1232-1966
    Pojawia się w:
    Annals of Agricultural and Environmental Medicine
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Association of XRCC6 C1310G and LIG4 T9I polymorphisms of NHEJ DNA repair pathway with risk of colorectal cancer in the Polish population
    Autorzy:
    Balinska, Kinga
    Wilk, Damian
    Filipek, Beata
    Mik, Michal
    Zelga, Piotr
    Skubel, Pawel
    Dziki, Łukasz
    Dziki, Adam
    Mucha, Bartosz
    Kabziński, Jacek
    Majsterek, Ireneusz
    Powiązania:
    https://bibliotekanauki.pl/articles/1391955.pdf
    Data publikacji:
    2019
    Wydawca:
    Index Copernicus International
    Tematy:
    Colorectal Neoplasms/genetics
    DNA-Binding Proteins/genetics
    Genetic Predisposition to Disease/genetics
    Genotype
    Polymorphism
    Single Nucleotide
    Opis:
    Introduction: Colorectal cancer is the second most common cancer worldwide. DNA double strand breaks (DSBs) are the most dangerous lesions which can lead to carcinogenesis. Nonhomologous end joining (NHEJ) is an important pathway, that allows for recovering DNA by direct end joining. The XRCC6 and LIG4 genes encode respectively Ku70 protein and human ATP-dependent DNA ligase, which are the components of the NHEJ repair pathway. The aim of our study was to evaluate the influence of XRCC6 C1310G and LIG4 T9I genes polymorphisms on colorectal cancer risk among Polish population. Materials and method: Genotyping was performed using TaqMan probes based on analysis of PCR products amplified in Real Time PCR. The research has been carried out on the material obtained from 100 patients with colorectal cancer and 100 cancer-free individuals who were age and sex-matched as a control group. The results were developed using the chi – squer test and odds ratio (OR). Results: Odd ratio analysis indicates reduced risk of colorectal cancer for LIG4 T9I polymorphism in heterozygotus model C/T (OR= 0.2717 95% CI= 0.1247-0,5918) and homozygous model T/T (OR= 0.3593 95% CI= 0.1394-0.9266). Similar situation we observed for XRCC6 C1310G gene polymorphism, which indicated on heterozygotus variant C/G (OR= 0.1181 95% CI= 0.0145-0.964) and homozygotus variant G/G (OR= 0.0972 95% CI= 0.0097-0.9713) to decrease the risk of colorectal cancer. Conslusions: Our research revealed XRCC6 C1310G and LIG4 T9I polymorphisms are associated with diminished risk of colorectal cancer. However, to confirm obtained results, a further investigations should be carried out.
    Źródło:
    Polish Journal of Surgery; 2019, 91, 3; 15-20
    0032-373X
    2299-2847
    Pojawia się w:
    Polish Journal of Surgery
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Lack of association between single nucleotide polymorphisms of CPA4, LEP and AKR1B1 genes located at the long arm of chromosome 7 (7q31-q35) and chronic kidney disease occurrence and progression
    Brak związku między polimorfi zmami pojedynczego nukleotydu genów CPA4, LEP oraz AKR1B1 zlokalizowanych na długim ramieniu chromosomu 7 (7q31-q35) a występowaniem i progresją przewlekłej choroby nerek
    Autorzy:
    Śnit, Mirosław
    Gumprecht, Janusz
    Trautsolt, Wanda
    Nabrdalik, Katarzyna
    Grzeszczak, Władysław
    Powiązania:
    https://bibliotekanauki.pl/articles/1038646.pdf
    Data publikacji:
    2012
    Wydawca:
    Śląski Uniwersytet Medyczny w Katowicach
    Tematy:
    chronic kidney disease
    gene polymorphism
    tdt
    snp
    przewlekła choroba nerek
    polimorfi zm genowy
    polimorfi zm pojedynczego nukleotydu
    (snp)
    Opis:
    BACKGROUND The aim of the study was to investigate the infl uence of single nucleotide polymorphisms (SNPs) of carboxypeptidase A4, CPA4, leptin, LEP and aldo-keto reductase family 1, AKR1B1 genes located at the long arm of chromosome 7 (7q31-q35) on development and progression of chronic kidney disease (CKD). MATERIAL AND METHODS There was an association study by PCR-RFLP method of following SNPs in parent-off spring trios performed: G934T of CPA4 gene, A19G of LEP gene and C-106T of AKR1B gene. 471 subjects, 157 patients with CKD and 314 their biological parents were examined. The patients were divided into 3 groups: diabetic nephropathy due to type 1 diabetes (n = 34), chronic primary glomerulonephritis (n = 70) and chronic inter- stitial nephritis (n = 53). The mode of alleles transmission was determined using the transmission disequilibrium test (TDT). RESULTS There was no association of studied SNPs and CKD occurrence or pro- gression rate of renal function loss. Transmission of alleles of investigated SNPs did not diff er signifi cantly: G934T of CPA4 gene: P = 0.61 in whole group of CKD patients, p = 0.66 in GN group, p = 0.70 – IN group and p = 0.61 in DN one; A19G of LEP gene: p = 0.58, 0.71, 0.78 and 0.49, respectively; C-106T of ALDR1 gene: p = 0.31, 0.47, 0.12 and 0.38, respectively. No impact of examined polymorphisms on the rate of progression of renal function loss was observed. CONCLUSIONS The results, obtained in the study, suggest that the investigated SNPs: G934T of CPA4 gene, A19G of LEP gene and C-106T of AKR1B gene may not play a major role in the development and progression of chronic nephropathies.
    WSTĘP Celem badań było zbadanie wpływu polimorfi zmów pojedynczego nukleotydu (SNPs) genów karboksypepsydazy A4, CPA4, leptyny, LEP i reduktazy aldozy, AKR1B1, znajdujących się na długim ramieniu chromosomu 7 (7q31-q35) na rozwój i progresję przewlekłej choroby nerek (PChN). MATERIAŁ I METODY Wykorzystując metodę PCR-RFLP przebadano następujące polimorfizmy: G934T CPA4 genu, A19G LEP i C-106T genu AKR1B. Badaniami objęto 471 osoby: 157 z PChN i 314 ich biologicznych rodziców. Pacjentów podzielono na 3 grupy: z nefropatią cukrzycową w przebiegu cukrzycy typu 1 (DN, n = 34), z przewlekłym pierwotnym kłębuszkowym zapaleniem nerek (GN, n = 70) oraz z przewlekłym śródmiąższowym zapaleniem nerek (IN, n = 53). Tryb przekazywania alleli został oceniony testem nierównowagi przekazywania (Transmission-Disequilibrium Test, TDT). WYNIKI Częstość przekazywania alleli analizowanych SNPs nie odbiegała znacząco od oczekiwanej: G934T CPA4: p = 0,61 w całej grupie badanej, p = 0,66 w grupie GN, p = 0,70 – w grupie IN oraz p = 0,61 w grupie DN; A19G LEP: p = 0,58; 0,71; 0,78 i 0,49, odpowiednio; C-106T genu ALDR1: p = 0,31; 0,47; 0,12 i 0,38, odpowiednio. Nie zaobserwowano żadnego wpływu badanych polimorfi zmów na szybkość utraty funkcji nerek. WNIOSKI Uzyskane w badaniu wyniki wskazują, że badane SNPs: G934T genu CPA4, A19G LEP i C-106T genu AKR1B nie odgrywają istotnej roli w rozwoju i progresji przewlekłych nefropatii.
    Źródło:
    Annales Academiae Medicae Silesiensis; 2012, 66, 2; 27-33
    1734-025X
    Pojawia się w:
    Annales Academiae Medicae Silesiensis
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
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