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    Wyświetlanie 1-4 z 4
    Tytuł:
    VDR gene single nucleotide polymorphisms and their association with risk of oral cavity carcinoma
    Autorzy:
    Małodobra-Mazur, Małgorzata
    Paduch, Agnieszka
    Lebioda, Arleta
    Konopacka, Maria
    Rogoliński, Jacek
    Szymczyk, Cezary
    Wierzgoń, Janusz
    Maciejewski, Adam
    Chmielik, Ewa
    Jonkisz, Anna
    Półtorak, Stanisław
    Dobosz, Tadeusz
    Powiązania:
    https://bibliotekanauki.pl/articles/1039670.pdf
    Data publikacji:
    2012
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    VDR gene
    SNP
    oral cavity cancer
    Opis:
    Vitamin D3 (1,25(OH)2D3 (1,25-dihydroxyvitamin D3)) is a hormone playing a crucial role in numerous biological processes in the human body, including induction and control of cell proliferation and differentiation. Numerous data relate the vitamin D3 level with various types of cancer. It has been suggested that SNPs in the vitamin D3 receptor (VDR) gene might influence both the risk of cancer occurrence and cancer progression. The aim of this study was to search for genetic correlations between individual SNPs in the VDR gene and the risk of oral cavity carcinoma. Two SNPs were selected based on the literature and our previous results. Seventy-three patients with squamous cell carcinoma of the head and neck and one hundred control subjects were investigated. Two SNPs in the VDR gene were genotyped in minisequencing reactions followed by capillary electrophoresis. Hardy-Weinberg equilibrium (HWE), the χ2 test and logistic regression were used for statistical analysis. The SNP rs2238135 in the VDR gene displayed statistical differences in frequency between the tested groups (p=0,0007). Furthermore, the G/C genotype of the rs2238135 in the VDR gene was characterized by a 3.16 fold increased risk of oral cavity carcinoma. The obtained results provide evidence for a genetic association between rs2238135 in the VDR gene and the occurrence and risk of oral cavity cancer.
    Źródło:
    Acta Biochimica Polonica; 2012, 59, 4; 627-630
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    MutS as a tool for mutation detection
    Autorzy:
    Stanisławska-Sachadyn, Anna
    Sachadyn, Paweł
    Powiązania:
    https://bibliotekanauki.pl/articles/1041359.pdf
    Data publikacji:
    2005
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    fusion
    SNP
    chimeric protein
    MutS
    mutation detection
    Opis:
    MutS, a DNA mismatch-binding protein, seems to be a promising tool for mutation detection. We present three MutS based approaches to the detection of point mutations: DNA retardation, protection of mismatched DNA against exonuclease digestion, and chimeric MutS proteins. DNA retardation in polyacrylamide gels stained with SYBR-Gold allows mutation detection using 1-3 µg of Thermus thermophilus his6-MutS protein and 50-200 ng of a PCR product. The method enables the search for a broad range of mutations: from single up to several nucleotide, as mutations over three nucleotides could be detected in electrophoresis without MutS, due to the mobility shift caused by large insertion/deletion loops in heteroduplex DNA. The binding of DNA mismatches by MutS protects the complexed DNA against exonuclease digestion. The direct addition of the fluorescent dye, SYBR-Gold, allows mutation detection in a single-tube assay. The limited efficiency of T4 DNA polymerase as an exonuclease hampers the application of the method in practice. The assay required 300-400 ng of PCR products in the range of 200-700 bp and 1-3 µg of MutS. MutS binding to mismatched DNA immobilised on a solid phase can be observed thanks to the activity of a reporter domain linked to MutS. We obtained chimeric bifunctional proteins consisting of T. thermophilus MutS and reporter domains, like β-galactosidase or GFP. Very low detection limits for β-galactosidase could theoretically enable mutation detection not only by the examination of PCR products, but even of genomic DNA.
    Źródło:
    Acta Biochimica Polonica; 2005, 52, 3; 575-583
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Barretts esophagus associates with a variant of IL23R gene
    Autorzy:
    Gaj, Pawel
    Mikula, Michal
    Wyrwicz, Lucjan
    Regula, Jaroslaw
    Ostrowski, Jerzy
    Powiązania:
    https://bibliotekanauki.pl/articles/1040756.pdf
    Data publikacji:
    2008
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    Barrett's esophagus
    risk
    SNP
    IL23R
    association study
    Opis:
    Gastroesophageal reflux disease is regarded as a spectrum of diseases: non-erosive reflux disease (NERD), erosive reflux disease (ERD), and the far end of the spectrum represented by patients with Barrett's esophagus. Among predisposing factors, both risk and protective polymorphic variants of several genes may influence the clinical outcomes of reflux disease. Consequently, different molecular mechanisms are likely to underlie the development of clinical variants of reflux disease. Ninety six patients with reflux disease were screened for polymorphisms of CARD15, SLC22A4 (OCTN1), SLC22A5 (OCTN2), DLG5, ATG16L1 and IL23R genes which had previously been found to associate with immune-mediated chronic inflammatory disorders. While none of the polymorphisms were associated with NERD or ERD, the 1142G/A variant of the IL23R gene was found to be a risk variant in Barrett's esophagus patients. The IL23/IL23R pathway may modulate STAT3 transcriptional activity which is an essential regulator not only of immune-mediated inflammation, but also of inflammatory-associated apoptosis resistance. Although the mechanisms of metaplastic transition of inflamed squamous epithelium are undetermined as yet, our findings suggest potential involvement of alternations in the IL23/IL23R pathway as a molecular background of Barrett's esophagus development.
    Źródło:
    Acta Biochimica Polonica; 2008, 55, 2; 365-369
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    SNP-minisequencing as an excellent tool for analysing degraded DNA recovered from archival tissues
    Autorzy:
    Bąbol-Pokora, Katarzyna
    Berent, Jarosław
    Powiązania:
    https://bibliotekanauki.pl/articles/1040691.pdf
    Data publikacji:
    2008
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    formalin-fixed paraffin-embedded tissues
    SNP
    minisequencing
    low copy number DNA
    Opis:
    SNP-minisequencing has become common in forensic genetics, especially for analysing degraded or low copy number DNA (LCN DNA). The aim of this study was to examine the usefulness of five SNP (single nucleotide polymorphism) markers for analyzing degraded and LCN DNA recovered from archival samples. DNA extractions of eight formalin-fixed paraffin-embedded (FFPE) tissues were performed and DNA fragments were amplified in one multiplex PCR (polymerase chain reaction). SNPs were identified in a minisequencing reaction and a gel electrophoresis in ABI Prism® 377 Sequencer. The research confirmed the usefulness of SNP-minisequencing for analysing FFPE tissues.
    Źródło:
    Acta Biochimica Polonica; 2008, 55, 4; 815-819
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
      Wyświetlanie 1-4 z 4

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