Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

English (EN)·Polski (PL)·Yкраїнський (UK)
Przejdź do strony domowej biblioteki Centralna Biblioteka Wojskowa Link otwiera się w nowym oknie Logo biblioteki Prolib Integro - strona głównaCentralna Biblioteka Wojskowa

Wyszukujesz frazę "genetic polymorphism" wg kryterium: Temat

  Lista filtrów
Wyrównaj
Wyświetlanie 1-15 z 43
Tytuł:
Human AGT-p.Met268Thr and coronary heart disease risk: a case-control study and meta-analysis
Autorzy:
Hanieh, Mohammadi
Narges, Razavi
Abbasi, Ali
Babaei, Faezeh
Seyedrezazadeh, Ensiyeh
Hosseinzade, Abasalt
Powiązania:
https://bibliotekanauki.pl/articles/551649.pdf
Data publikacji:
2018
Wydawca:
Stowarzyszenie Przyjaciół Medycyny Rodzinnej i Lekarzy Rodzinnych
Tematy:
coronary disease
angiotensinogen
genetic polymorphism
meta-analysis.
Źródło:
Family Medicine & Primary Care Review; 2018, 1; 17-24
1734-3402
Pojawia się w:
Family Medicine & Primary Care Review
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Sequence analysis of human cytomegalovirus US28 gene in low-passage clinical isolates from children and AIDS patients
Autorzy:
He, Rong
Xia, Chang
Ruan, Qiang
Qi, Ying
Ma, Yan-Ping
Ji, Yao-Hua
Guo, Jin-Jin
Powiązania:
https://bibliotekanauki.pl/articles/1039923.pdf
Data publikacji:
2011
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
chemokine receptors
cytomegalovirus
genetic polymorphism
US28
Opis:
Human cytomegalovirus (HCMV) is often a dangerous opportunistic pathogen that causes significant morbidity and mortality in newborn children and immunocompromised patients. The different symptoms and tissue tropisms of HCMV infection may result from genetic polymorphism. This study investigated the sequence variability of the HCMV US28 ORF, which shows sequence homology to the G protein-coupled receptor. HCMV isolated from suspected pediatric cases and isolates from AIDS patients were compared in order to examine the possible associations between polymorphisms and pathogenesis. Seventy children with suspected congenital HCMV infection, who suffered from jaundice (47), megacolon (10), and microcephaly (13), and 17 AIDS patients, were studied. Mutation was prevalent among the sequences of US28, with a focus on the two ends of US28. The important functional groups of US28 are highly conserved. An unrooted tree showed that all sequences from suspected congenitally infected infants and AIDS patients were divided into three groups. Comparison showed that most of the sequences (12/17) from pediatric patients were included in the first group (G1), whereas most of the sequences (11/17) from AIDS patients were included in the third group (G3). The specific high mutation sites in US28 from children were located at the C terminus of the protein, whereas those from AIDS patients were located at the N terminus. We demonstrated the existence of polymorphisms among the US28 genes of clinical isolates of HCMV from infants with suspected congenital infection. Comparison of US28 sequences from AIDS patients with those from children showed that both sequences have their own specific high mutation points.
Źródło:
Acta Biochimica Polonica; 2011, 58, 2; 231-236
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Evaluation of effect CAT -262C/T, SOD + 35A/C, GPx1 Pro197Leu polymorphisms in patients with ibd in the polish population
Autorzy:
Mrowicki, Jerzy
Mrowicka, Małgorzata
Majsterek, Ireneusz
Mik, Michał
Dziki, Adam
Dziki, Łukasz
Powiązania:
https://bibliotekanauki.pl/articles/1393718.pdf
Data publikacji:
2016
Wydawca:
Index Copernicus International
Tematy:
genetic polymorphism
antioxidant enzyme
inflammatory bowel disease
Opis:
Inflammatory bowel disease (IBD) are a heterogeneous group of disorders in the course dominated by chronic, recurrent gastrointestinal inflammation. It is believed that the activation of IBD occurs in patients with a genetic predisposition to their development. Chronic inflammation develops as a result of an excessive reaction of the immune system principally under the influence of environmental risk factors. Among them, it has been shown that the mechanism of oxidative stress is associated with the pathophysiology of inflammatory bowel disease, responsible for the commencement and progress of these diseases. The aim of the study was the relationship between single nucleotide polymorphisms (SNPs) of individual antioxidant enzymes, and the prevalence of inflammatory bowel disease that may be associated with increased levels of oxidative stress. Material and methods. A total of 111 IBD patients, including 65 patients with ulcerative colitis (UC) and 46 with Crohn’s disease (CD) and 125 healthy controls recruited from the Polish population, were genotyped for CAT -262C / T (rs1001179), SOD + 35A / C (rs2234694), GPx Pro 197 Leu polymorphisms. Genotyping of CAT, SOD, GPx gene polymorphism was performed by a RFLP-PCR. Results. The performed analysis of genetic polymorphisms of antioxidant enzymes showed that polymorphic variant of the CAT -262 C / T may have protective effects in patients with ulcerative colitis in the range of genotype C / T; OR = 0.49 (0.25-0.99), p = 0.044. Trend protective, but statistically unrelated, it was also observed for genotype T / T and T allele of the same polymorphism and genotypes and alleles + 35A / C SOD1 in UC as well as polymorphic variants CAT -262 C / T, Pro197Leu of GPx1, + 35A / C SOD1 in CD. The results were compared with a control group of potentially healthy individuals without such diseases. Conclusions. It has been shown that the polymorphism of antioxidant enzymes CAT gene -262 C / T may have protective effects in patients who are carriers of a genotype C / T at the UC. The potential protective effect without statistical relationships were also observed for other genotypes and alleles studied polymorphic variants of antioxidant enzymes in CD and CAT- 262C / T and + 35 A / C SOD1 in UC. Conducted our audit should be extended to more group of patients in order to assess whether or not to confirm the observed during analysis, the protective effect of CAT-262 C / T in ulcerative colitis and other trends observed for other polymorphic variants tested genes.
Źródło:
Polish Journal of Surgery; 2016, 88, 6; 565-575
0032-373X
2299-2847
Pojawia się w:
Polish Journal of Surgery
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Analysis of the G/C polymorphism in the 5-untranslated region of the RAD51 gene in breast cancer.
Autorzy:
Blasiak, Janusz
Przybyłowska, Karolina
Czechowska, Agnieszka
Zadrożny, Marek
Pertyński, Tomasz
Rykała, Jan
Kołacińska, Agnieszka
Morawiec, Zbigniew
Drzewoski, Józef
Powiązania:
https://bibliotekanauki.pl/articles/1043672.pdf
Data publikacji:
2003
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
genetic polymorphism
RAD51 gene
RFLP-PCR
breast cancer
Opis:
The breast cancer suppressor proteins BRCA1 and BRCA2 interact with RAD51, a protein essential for maintaining genomic stability by playing a central role in homology-dependent recombinational repair of the DNA double-strand breaks. Therefore, genetic variability in the RAD51 gene may contribute to the appearance and/or progression of breast cancer. A single nucleotide polymorphism in the 5'- untranslated region of RAD51 (a G to C substitution at position 135, the G/C polymorphism) is reported to modulate breast cancer risk. We investigated the distribution of genotypes and frequency of alleles of the G/C polymorphism in breast cancer. Tumor tissues were obtained from postmenopausal women with node-negative and node-positive breast carcinoma with uniform tumor size. Blood samples from age matched healthy women served as control. The G/C polymorphism was determined by PCR-based MvaI restriction fragment length polymorphism. The distribution of the genotypes of the G/C polymorphism did not differ significantly (P >0.05) from those predicted by the Hardy-Weinberg distribution. There were no differences in the genotype distribution and allele frequencies between node-positive and node-negative patients. There were no significant differences between distributions of the genotypes in subgroups assigned to histological grades according to Scarf-Bloom-Richardson criteria and the distribution predicted by Hardy-Weinberg equilibrium (P >0.05). Our study implies that the G/C polymorphism of the RAD51 gene may not be directly involved in the development and/or progression of breast cancer and so it may not be useful as an independent marker in this disease.
Źródło:
Acta Biochimica Polonica; 2003, 50, 1; 249-253
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Polymorphisms in the p53 pathway genes and micronucleus occurrence in Chinese vinyl chloride-exposed workers
Autorzy:
Li, Yong
Feng, Nan-Nan
Zhang, Guang-Hui
Wang, Qi
Hao, Yan-Hui
Nanzhang, Ya
Long, Changxu
Li, Yongliang
Brandt-Rauf, Paul W.
Xia, Zhao-Lin
Powiązania:
https://bibliotekanauki.pl/articles/2179059.pdf
Data publikacji:
2013-12-01
Wydawca:
Instytut Medycyny Pracy im. prof. dra Jerzego Nofera w Łodzi
Tematy:
VC
occupational exposure
p53 pathway genes
genetic polymorphism
Opis:
Objectives: To investigate the association between polymorphisms in the p53 pathway genes and chromosomal damage in vinyl chloride (VC)-exposed workers. Materials and Methods: Cytokinesis block micronucleus test was performed in 310 VC-exposed workers and 149 non-exposed workers to determine chromosomal damage. The polymerase chain reaction and restriction fragment length polymorphism technique were used to detect six SNPs in the p53 pathway genes involved in the cell cycle. Results: There was a highly significant dose-response relationship between VC exposure and chromosomal damage. Individuals carrying the variant genotypes were at higher risk for chromosomal damage compared with their wild type genotype: p53rs1042522, MDM2 Del1518rs3730485, MDM2rs2279744 and GADD45Ars532446. On the other hand, individuals possessing the variant genotype of CDKN2A rs3088440 had significantly decreased risk compared with the corresponding wild-type. Conclusions: Genetic polymorphisms in P53 pathway genes may have an impact on VC-induced chromosomal damage.
Źródło:
International Journal of Occupational Medicine and Environmental Health; 2013, 26, 6; 825-836
1232-1087
1896-494X
Pojawia się w:
International Journal of Occupational Medicine and Environmental Health
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Population genetic structure of Iris pumila L. in Ukraine: effects of habitat fragmentation
Autorzy:
Bublyk, O.
Andreev, I.
Parnikoza, I.
Kunakh, V.
Powiązania:
https://bibliotekanauki.pl/articles/2117815.pdf
Data publikacji:
2020
Wydawca:
Polska Akademia Nauk. Czasopisma i Monografie PAN
Tematy:
conservation
genetic polymorphism
habitat fragmentation
ISSR markers
population
genetics
Opis:
Habitat fragmentation is one of serious threats to biodiversity of nature in today's world. The present study of a typical steppe species Iris pumila L. (Iridaceae) has analyzed the impacts of geographical isolation and population size on genetic diversity and population structure in conditions of habitat fragmentation. The key indices of population genetic variability calculated from the ISSR markers data were on average as follows: Shannon diversity index (S) – 0.188; unbiased Nei’s gene diversity (He ) – 0.123; and the average measure of Jaccard’s genetic distances between individuals within populations – 58.4%. Although the largest population had significantly higher values of S and He, the small and marginal populations also showed a comparable level of variation. Most of the genetic variation of I. pumila was distributed within the populations. A strong correlation was found between Nei’s genetic distances and geographic distances between the populations. According to the Bayesian analysis, genetic structure of the populations was highly homogeneous; however, the presence of admixed genotypes indicated the possibility of gene flow between the populations at present.
Źródło:
Acta Biologica Cracoviensia. Series Botanica; 2020, 62, 1; 51-61
0001-5296
Pojawia się w:
Acta Biologica Cracoviensia. Series Botanica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Genetic polymorphism of Klotho gene and bladder cancer risk
Polimorfizm genu Klotho a ryzyko raka pęcherza moczowego
Autorzy:
Szymczak, Agnieszka
Forma, Ewa
Krześlak, Anna
Jóźwiak, Paweł
Bryś, Magdalena
Madej, Adam
Różański, Waldemar
Powiązania:
https://bibliotekanauki.pl/articles/1032775.pdf
Data publikacji:
2012
Wydawca:
Łódzkie Towarzystwo Naukowe
Tematy:
genetic polymorphism
klotho
bladder cancer
snp
polimorfizm genów
rak pęcherza
Opis:
Introduction: Bladder cancer is the most frequent tumor of the urinary tract in Poland. Klotho gene can act as an suppressor gene. Therefore, variability of this gene might be implicated in the carcinogenesis of urinary bladder. The aim of the study was analysis of the association between the g.33590184 G>A (rs1207568), g.33634983 C>T (rs564481), g.33628193 G>C (rs9527025) polymorphisms of the Klotho gene and bladder cancer risk. Materials and methods: The study included 96 patients diagnosed with transitional cell carcinoma of the bladder (TCC) and 114 healthy, cancer-free individuals. Three selected polymorphisms were typed by PCR with confronting two-pair primers (PCR-CTPP) and Real Time PCR with TaqMan probes. Results: The GA and AA genotypes of the rs1207568 polymorphism increased the risk of bladder cancer (OR = 1.86, 95% CI [1.04-3.33], p = 0.03 and OR = 6.58, 95% CI [1.27-34.02], p = 0.01, respectively). Individuals who were heterozygous and homozygous for the A variant had 2.10-fold higher risk of bladder cancer (OR = 2.10, 95% CI [1.20-3.65], p = 0.009). On the other hand, heterozygous subjects and homozygous carriers of the wild-type allele (G) had a decreased bladder cancer risk (OR = 0.19, 95% CI [0.04-0.95], p = 0.043). Also, the occurrence of bladder cancer was positively correlated with the presence of the GC genotype of the rs9527025 polymorphism (OR = 2.84, 95% CI [1.57-5.15], p = 0.0001). Conclusions: Two polymorphisms of Klotho gene (rs1207568 and rs9527025) may play a role in susceptibility to bladder cancer.
Wstęp: Rak pęcherza moczowego jest najczęściej występującym nowotworem układu moczowego w Polsce. Sugeruje się, że gen Klotho może pełnić funkcje genu supresorowego. W związku z tym, polimorfizm genu Klotho może mieć wpływ na proces transformacji nowotworowej pęcherza moczowego. Celem przedstawionych badań był analiza związku pomiędzy występowaniem wybranych polimorfizmów pojedynczych nukleotydów g.33590184 G>A (rs1207568), g.33634983 C>T (rs564481), g.33628193 G>C (rs9527025) a ryzykiem zachorowania na raka pęcherza moczowego. Materiały i metody: Do badań włączono 96 pacjentów ze zdiagnozowanym przejściowokomórkowym rakiem pęcherza moczowego (TCC; transitional cell carcinoma) oraz 114 osób zdrowych, u których nie stwierdzono choroby nowotworowej. Występowanie trzech wybranych polimorfizmów analizowano przy użyciu techniki PCR z dwiema parami przeciwstawnych starterów (PCR-CTPP; PCR with confronting two-pair primers) oraz metody Real Time PCR z sondami fluorescencyjnymi TaqMan. Wyniki: Genotypy GA i AA polimorfizmu rs1207568 wpływają na wzrost ryzyka zachorowania na przejściowokomórkowego raka pęcherza moczowego (OR = 1,86, 95% PU [1,04-3,33], p = 0,03 oraz OR = 6,58, 95% CI [1,27-34,02], p = 0,01, odpowiednio). U osób będących heterozygotami lub homozygotami pod względem allela A wykazano ponad 2-krotnie wyższe ryzyko zachorowania na raka pęcherza moczowego (OR = 2,10, 95% PU [1,20-3,65], p = 0,009). Natomiast w przypadku nosicieli allela G, w układzie homozygotycznym lub heterozygotycznym, obserwowano spadek ryzyka zachorowania na badany nowotwór (OR = 0,19, 95% PU [0,04-0,95], p = 0,043). W przypadku polimorfizmu rs952705 wykazano, że genotyp GC zwiększa ryzyko zachorowania na przejściowokomórkowego raka pęcherza moczowego (OR = 2,84, 95% PU [1,57-5,15], p = 0,0001).Wnioski: Dwa spośród badanych polimorfizmów genu Klotho (rs1207568 i rs9527025) mogą mieć wpływ na predyspozycję do zachorowania na przejściowokomórkowego raka pęcherza moczowego.
Źródło:
Folia Medica Lodziensia; 2012, 39, 2; 189-205
0071-6731
Pojawia się w:
Folia Medica Lodziensia
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Genetic variants of uncoupling proteins-2 and -3 in relation to maximal oxygen uptake in different sports
Autorzy:
Holdys, Joanna
Gronek, Piotr
Kryściak, Jakub
Stanisławski, Daniel
Powiązania:
https://bibliotekanauki.pl/articles/1039610.pdf
Data publikacji:
2013
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
UCP2
athletic performance
genetic polymorphism
UCP3
energy efficiency
Opis:
Uncoupling proteins 2 and 3 (UCP2 and UCP3) as mitochondrial electron transporters are involved in regulation of ATP production and energy dissipation as heat. Energy efficiency plays an important role in physical performance, especially in aerobic fitness. The aim of this study was to examine the association between maximal oxygen uptake and genetic variants of the UCP2 and UCP3 genes. The studies were carried out in a group of 154 men and 85 women, professional athletes representing various sports and fitness levels and students of the University of Physical Education in Poznań. Physiological and molecular procedures were used, i.e. direct measurement of maximum oxygen uptake (VO2max) and analysis of an insertion/deletion (I/D) polymorphism in the 3'untranslated region of exon 8 of the UCP2 gene and a C>T substitution in exon 5 (Y210Y) of the UCP3 gene. No statistically significant associations were found, only certain trends. Insertion allele (I) of the I/D UCP2 and the T allele of the UCP3 gene were favourable in obtaining higher VO2max level and might be considered as endurance-related alleles.
Źródło:
Acta Biochimica Polonica; 2013, 60, 1; 71-75
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Maximal oxygen uptake is associated with allele -202 A of insulin-like growth factor binding protein-3 (IGFBP3) promoter polymorphism and (CA)n tandem repeats of insulin-like growth factor IGF1 in Caucasians from Poland
Autorzy:
Gronek, Piotr
Holdys, Joanna
Kryściak, Jakub
Wieliński, Dariusz
Słomski, Ryszard
Powiązania:
https://bibliotekanauki.pl/articles/1039282.pdf
Data publikacji:
2014
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
IGF1
IGFBP3
athletic performance
genetic polymorphism
energy efficiency
Opis:
Physical fitness is a trait determined by multiple genes, and its genetic basis is modified by numerous environmental factors. The present study examines the effects of the (CA)n tandem repeats polymorphism in IGFI gene and SNP Alw21I restriction site -202 A>C polymorphism in IGF1BP3 on VO2max - a physiological index of aerobic capacity of high heritability. The study sample consisted of 239 (154 male and 85 female) students of the University School of Physical Education in Poznań and athletes practicing various sports, including members of the Polish national team. An association was found between -202 A/C polymorphism of IGFBP3 gene with VO2max in men. Higher VO2max values were attained by men with CC genotype, especially male athletes practicing endurance sports and sports featuring energy metabolism of aerobic/anaerobic character. A statistically significant influence of allele 188 and genotype 188/188 of tandem repeats (CA)n polymorphism of IGF1 gene on VO2max was found in women. Also, lower values of maximal oxygen uptake were noted in individuals with allele 186 or genotype 186/186, and higher VO2max values in athletes with allele 194.
Źródło:
Acta Biochimica Polonica; 2014, 61, 2; 245-252
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:
FABP3 polymorphism in relation to growth traits in Simmental and Salers cows
Polimorfizm FABP3 w odniesieniu do cech wzrostu krów ras simental i salers
Autorzy:
Kuźmińska, K.
Kulig, H.
Szewczuk, M.
Zajączkowska, J.
Jakóbiak, M.
Padzik, N.
Powiązania:
https://bibliotekanauki.pl/articles/2606371.pdf
Data publikacji:
2018
Wydawca:
Zachodniopomorski Uniwersytet Technologiczny w Szczecinie. Wydawnictwo Uczelniane ZUT w Szczecinie
Tematy:
genetic polymorphism
Simmental breed
Salers breed
beef cattle
body weight
growth trait
Źródło:
Acta Scientiarum Polonorum. Zootechnica; 2018, 17, 4; 21-26
1644-0714
Pojawia się w:
Acta Scientiarum Polonorum. Zootechnica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Genetic diversity of natural psammophilous populations of Hypogymnia physodes (L.) Nyl. on Polish seacoast dunes
Autorzy:
Wieczorek, Anetta
Achrem, Magdalena
Truszkowska, Aleksandra
Łysko, Andrzej
Popiela, Agnieszka
Powiązania:
https://bibliotekanauki.pl/articles/952610.pdf
Data publikacji:
2017
Wydawca:
Polskie Towarzystwo Botaniczne
Tematy:
genetic polymorphism
interpopulation variability
randomly amplifed
polymorphic dna
rapd
hypogymnia physodes
sand dunes
Opis:
Hypogymnia physodes is a lichenized fungus of the family Parmeliaceae. The aim of this study was to compare the level of genetic diversity in eight psammophilous and three epiphytic populations of this species from the Baltic coast in Poland, based on randomly amplified polymorphic DNA (RAPD) markers. In the reactions with nine primers, 153 fragments were obtained, of which 133 were polymorphic. In one reaction, from 0 (for lich2 primer) to 55 (for C02 primer) amplicons were obtained. A Dice’s genetic similarity index matrix was constructed based on the results of RAPD marker polymorphism examination. The values of similarity indices ranged from 0.00 to 0.73. Results of this study confirm the separateness of all three epiphytic populations from those found on sand dunes (100% support, UPGMA/1000 trees).
Źródło:
Acta Mycologica; 2017, 52, 1
0001-625X
2353-074X
Pojawia się w:
Acta Mycologica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
The role of nuclear factor-κB in the development of autoimmune diseases: a link between genes and environment
Autorzy:
Kuryłowicz, Alina
Nauman, Janusz
Powiązania:
https://bibliotekanauki.pl/articles/1040661.pdf
Data publikacji:
2008
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
autoimmune diseases
nuclear factor-κB (NF-κB)
genetic polymorphism
NF-κB targeted strategies
Opis:
Although autoimmune diseases are relatively common, mechanisms that lead to their development remain largely unknown. Nuclear factor-κB (NF-κB), as a key transcription factor involved in the regulation of immune responses and apoptosis, appears to be a good candidate for studies on the pathogenesis of autoimmunity. This review presents how perturbations of the NF-κB signaling pathway may contribute to self-tolerance failure, initiation of autoimmune inflammatory response as well as its persistent maintenance and therefore to the development of common autoimmune diseases including rheumatoid arthritis, multiple sclerosis, type 1 diabetes mellitus, thyroid autoimmune diseases, systemic lupus erythematosus as well as inflammatory bowel diseases and psoriasis. A special emphasis is put on the genetic variations in the NF-κB related genes and their possible association with susceptibility to autoimmune diseases, as well as on the therapeutic potential of the NF-κB targeted strategies in the treatment of autoimmunity.
Źródło:
Acta Biochimica Polonica; 2008, 55, 4; 629-647
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Genetic polymorphism and quantitative variation of alpha-amylases from rye endosperm
Autorzy:
Masojc, P
Lapinski, M.
Larsson-Raznikiewicz, M.
Powiązania:
https://bibliotekanauki.pl/articles/2048192.pdf
Data publikacji:
1995
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
chromosome
rye
Secale cereale
colorimetric assay
isoenzyme
alpha-amylase
electrophoresis
endosperm
isoelectric focusing
immunoelectrophoresis
cereal cultivar
genetic polymorphism
Opis:
α-Amylase isozymes from rye endosperm were analysed by means of isoelectric focusing, polyacrylamide gel electrophoresis, immunoelectrophoresis and colorimetric assay. Α-AMY 1 (high pI) group was separated into 13 IEF bands, whereas in group α-AMY2 (low pI) 2 intensive and 6-8 faint bands were found. Two linked (2±1 cM) polymorphic loci and a single locus with two alleles encoding for α-AMY 1 and α-AMY 2 groups, respectively, were identified after genetic analysis of the IEF patterns. All α-amylase isozymes developed on PAGE, were shown to belong to α-AMY 1 group. It was demonstrated that a single PAGE isozyme corresponds to 2-4 separate IEF bands and that most of the IEF bands can be attributed to more than one PAGE isozyme. The activity of α-amylases from PAGE zone I was 2.3 times higher than the activity of zone II isozymes. A strong correlation between the activity and protein amount of particular α-AMY 1 isozymes (r=0.94) was found.
Źródło:
Journal of Applied Genetics; 1995, 36, 3; 197-204
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Polimorfizm genów kodujących białka naprawy DNA a zawodowe i środowiskowe narażenie na ołów, arsen i pestycydy
Polymorphism of genes encoding proteins of DNA repair vs. occupational and environmental exposure to lead, arsenic and pesticides
Autorzy:
Bukowski, Karol
Woźniak, Katarzyna
Powiązania:
https://bibliotekanauki.pl/articles/2162666.pdf
Data publikacji:
2018-03-09
Wydawca:
Instytut Medycyny Pracy im. prof. dra Jerzego Nofera w Łodzi
Tematy:
polimorfizm genetyczny
arsen
pestycydy
ołów
uszkodzenia DNA
geny naprawy DNA
genetic polymorphism
arsenic
pesticides
lead
DNA damage
DNA repair genes
Opis:
Polimorfizm genetyczny wiąże się z występowaniem w populacji co najmniej 2 różnych alleli w danym locus z częstością większą niż 1%. Wyróżniamy m.in. polimorfizm pojedynczego nukleotydu (single nucleotide polymorphism – SNP) i polimorfizm zmiennej liczby powtórzeń tandemowych. Występowanie określonych polimorfizmów w genach kodujących enzymy naprawy DNA jest związane z szybkością i wydajnością naprawy DNA oraz może chronić lub narażać daną osobę na skutki działania określonego ksenobiotyku. Związki chemiczne takie, jak ołów, arsen i pestycydy odznaczają się dużą toksycznością. Opisano wiele różnych polimorfizmów genów kodujących enzymy naprawy DNA, które mają wpływ na skuteczność naprawy uszkodzeń DNA indukowanych przez te ksenobiotyki. W przypadku ołowiu zbadano wpływ polimorfizmów genów: APE1 (apurinic/apyrimidinic endonuclease 1 – endonukleaza miejsca apurynowego/apirymidynowego) (rs1130409), hOGG1 (human 8-oxoguanine glycosylase – glikozylaza 8-oksyguaniny) (rs1052133), XRCC1 (X-ray repair cross-complementing protein group 1 – białko biorące udział w naprawie DNA przez wycinanie zasad) (rs25487), XRCC1 (rs1799782) oraz XRCC3 (X-ray repair cross-complementing protein group 3 – białko biorące udział w naprawie DNA przez rekombinację homologiczną) (rs861539). Dla arsenu przedstawiono w niniejszej pracy wyniki badań dotyczących następujących polimorfizmów: ERCC2 (excision repair cross-complementing – białko biorące udział w naprawie DNA przez wycinanie nukleotydów) (rs13181), XRCC3 (rs861539), APE1 (rs1130409) oraz hOGG1 (rs1052133). W odniesieniu do pestycydów w pracy przedstawiono zarówno osobny, jak i łączny wpływ polimorfizmów genów takich, jak XRCC1 (rs1799782), hOGG1 (rs1052133), XRCC4 (X-ray repair cross-complementing protein group 4 – białko biorące udział w naprawie DNA przez łączenie końców niehomologicznych) (rs28360135) i genu kodującego enzym detoksykacyjny paraoksonazę PON1 (paraoxonase 1) (rs662). Med. Pr. 2018;69(2):225–235
Genetic polymorphism is associated with the occurrence of at least 2 different alleles in the locus with a frequency higher than 1% in the population. Among polymorphisms we can find single nucleotide polymorphism (SNP) and polymorphism of variable number of tandem repeats. The presence of certain polymorphisms in genes encoding DNA repair enzymes is associated with the speed and efficiency of DNA repair and can protect or expose humans to the effects provoked by xenobiotics. Chemicals, such as lead, arsenic pesticides are considered to exhibit strong toxicity. There are many different polymorphisms in genes encoding DNA repair enzymes, which determine the speed and efficiency of DNA damage repair induced by these xenobiotics. In the case of lead, the influence of various polymorphisms, such as APE1 (apurinic/apyrimidinic endonuclease 1) (rs1130409), hOGG1 (human 8-oxoguanine glycosylase) (rs1052133), XRCC1 (X-ray repair cross-complementing protein group 1) (rs25487), XRCC1 (rs1799782) and XRCC3 (X-ray repair cross-complementing protein group 3) (rs861539) were described. For arsenic polymorphisms, such as ERCC2 (excision repair cross-complementing) (rs13181), XRCC3 (rs861539), APE1 (rs1130409) and hOGG1 (rs1052133) were examined. As to pesticides, separate and combined effects of polymorphisms in genes encoding DNA repair enzymes, such as XRCC1 (rs1799782), hOGG1 (rs1052133), XRCC4 (X-ray repair cross-complementing protein group 4) (rs28360135) and the gene encoding the detoxification enzyme PON1 paraoxonase (rs662) were reported. Med Pr 2018;69(2):225–235
Źródło:
Medycyna Pracy; 2018, 69, 2; 225-235
0465-5893
2353-1339
Pojawia się w:
Medycyna Pracy
Dostawca treści:
Biblioteka Nauki
Artykuł
Wyświetlanie 1-15 z 43

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies