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  • 1
    Digitale Medien
    Digitale Medien
    Springer
    Chromosoma 104 (1995), S. 2-13 
    ISSN: 1432-0886
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Abstract Unstable transmission of repeating segments in genes is now recognized as a new class of mutations causing human disease. Genetic instability observed in disease is termed an “expansion mutation” when the mutation is an increase in the copy number of a repeated unit, commonly a di-or trinucleotide. While the expansion mutation is well characterized in disease, the mechanism by which expansion occurs is not clear. This article focuses on physical properties of expansion at repeating nucleotides that may provide clues to the mechanism. Both biochemical and genetic data indicate that DNA structure is part of the mechanism and the underlying cause for expansion.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    Digitale Medien
    Digitale Medien
    Springer
    Chromosoma 104 (1995), S. 2-13 
    ISSN: 1432-0886
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Abstract. Unstable transmission of repeating segments in genes is now recognized as a new class of mutations causing human disease. Genetic instability observed in disease is termed an ”expansion mutation” when the mutation is an increase in the copy number of a repeated unit, commonly a di- or trinucleotide. While the expansion mutation is well characterized in disease, the mechanism by which expansion occurs is not clear. This article focuses on physical properties of expansion at repeating nucleotides that may provide clues to the mechanism. Both biochemical and genetic data indicate that DNA structure is part of the mechanism and the underlying cause for expansion.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 3
    ISSN: 1572-8927
    Schlagwort(e): DNA duplex ; hairpin ; human enkaphalin gene ; differential scanning calorimetry ; enthalpy of melting ; cooperative units ; pH dependence
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Chemie und Pharmazie
    Notizen: Abstract Two complementary 23 base-pair oligomers with sequences analogous to the 3′, 5′-cyclic adenosine monophosphate (cAMP) inducible enhancer region of the human enkaphalin gene were shown previously(6) to undergo reversible conformational transformation from duplex to two individual hairpin structures, with two GT and two AC base mismatches, respectively. The present study uses differential scanning calorimetry (DSC) to determine ΔH values for both the dissociation of the duplex formed by the complementary stands and the melting of each hairpin structure. Melting of the hairpins was studied at several different pH values and both the ΔH and cooperative unit (CU) parameters for the hairpin with the AC base mismatches was found to be pH dependent. Increased values for ΔH of melting and cooperative unit size at lower pH values supports the possibility of protonation of adenosine bases and formation of stable AC base pairs in this latter hairpin.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 4
    Digitale Medien
    Digitale Medien
    Weinheim : Wiley-Blackwell
    Electrophoresis 18 (1997), S. 1890-1898 
    ISSN: 0173-0835
    Schlagwort(e): Nitrite ; Nitrate ; Reduction ; Capillary electrophoresis ; Chemiluminescence detection ; Chemistry ; Biochemistry and Biotechnology
    Quelle: Wiley InterScience Backfile Collection 1832-2000
    Thema: Biologie , Chemie und Pharmazie
    Notizen: Production of nitrates and nitrites is a common step in many methodologies used to measure nitric oxide (NO) and NO-derived products in biological fluids. We report conditions that allow the rapid separation and quantification of nitrite from nitrate ions in biological fluids by capillary ion electrophoresis (CIE). CIE can be used to directly quantify nitrites and nitrates near the millimolar range. To detect lower levels, we have used CIE to monitor the reduction of nitrites and nitrates to NO for chemiluminescence detection. For reduction reactions, we directly compared the ability of three commonly used agents  -  potassium iodide (KI), mercuric chloride (HgCl2) and vanadium chloride (VCl3)  -  to reduce nitrite and nitrate ions to NO. Nitrites/nitrates can be efficiently reduced to NO at 37°C using vanadium chloride (100%) or HgCl2 (80%). However, these CE-derived conditions cannot simply be extrapolated to chemiluminescence measurements. Vanadium (III) yields high background in the photomultiplier that diminishes the sensitivity of chemiluminescence measurement to that outside of physiological ranges. We find that reactions carried out at 37°C in 2 M HCl using HgCl2 is efficient using both techniques.
    Zusätzliches Material: 5 Ill.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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