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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    International journal of legal medicine 99 (1987), S. 55-64 
    ISSN: 1437-1596
    Keywords: DNA-typing ; Complement component C4 ; HLA-DR ; Blood stain identification ; DNA-Typisierung ; Komplement-Komponente C4 ; HLA-DR ; Blutspuren, Identifizierung
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Description / Table of Contents: Zusammenfassung Es wird die Analyse des Polymorphismus der Länge eines Restriktionsfragments (RFLP, restriction fragment length polymorphism) beschrieben, wobei eine zweifache Spaltung von DNA-Präparaten mit XbaI und BglII Restriktionsenzymen und Hybridisierung mit C4 und HLA-DR angewandt wird. Bei der gewählten Untersuchungstechnik lassen sich zahlreiche individuelle Variationen in den C4 und DR Genregionen nachweisen. In einem Untersuchungsgut von 46 nicht verwandten Personen wurden in beiden Systemen 37 verschiedene Phänotypen-Muster gefunden, wobei die vorläufigen Werte des Diskriminations-Indexes mit 0.865 für C4 und mit 0.914 für DRβ berechnet wurden. Die Wahrscheinlichkeit einer Übereinstimmung bei Anwendung beider Systeme dürfte etwa bei 1.5 × 10−2 liegen. Die Brauchbarkeit dieser Methode zur Identifizierung individueller Blutspuren wurde anhand der DNA demonstriert, die aus 6 Monate alten, getrockneten Blutspuren von sieben Personen des Untersuchungskollektivs gewonnen wurde. Alle Proben konnten durch Vergleich der DNA-Muster mit denen der zuvor erstellten den entsprechenden Personen eindeutig zugeordnet werden. Es zeigten sich im DNA-Muster der Blutspuren keine u. U. lagerungsbedingte Veränderungen. Aus dieser unter Laborbedingungen durchgeführten D4 und DRβ DNA-Untersuchung kann geschlossen werden, daβ die DNA-Hybridisierungstechnik zukünftig als wichtiges Hilfsmittel bei der Spurenanalyse eingesetzt werden kann.
    Notes: Summary A restriction fragment length polymorphism analysis using double digestion of DNA preparations with XbaI and BglII restriction enzymes and hybridization with C4 and HLA-DR probes is described. The typing conditions selected reveal extensive individual variation in both C4 and DR gene regions. In our panel of 46 unrelated individuals, 37 different phenotypic patterns were recognized when both probes were used, and preliminary discriminative power values of 0.865 and 0.914 were calculated for C4 and DRβ, respectively. The probability of a chance match using both systems is probably about 1.5 · 10−2. The potential of this method for individual identification of blood stains was demonstrated on DNA prepared from 6-month-old dried blood stains from seven panel individuals. The seven individuals were all identified when comparing stain DNA patterns with panel control patterns. No RFLP pattern changes were observed following storage of blood stains. Based on these experiments with C4 and DRβ DNA typing under laboratory conditions, it is concluded that DNA typing with such probes may become a powerful tool in future stain identification analyses.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-0428
    Keywords: Type 1 (insulin-dependent) diabetes mellitus ; genetic susceptibility or resistance ; HLA-DQ molecules ; preferential peptide presentation ; beta-cell reactive T cells
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Genes in the HLA complex are by far the most important in determining genetic predisposition or resistance to Type 1 (insulin-dependent) diabetes mellitus. In this review evidence is presented that the HLA genes mainly involved are those encoding some particular HLA-DQ molecules. Both among Black, Caucasian and Japanese subjects particular cis or trans encoded DQ molecules are significantly associated with susceptibility, while others are associated with resistance. A varying degree of susceptibility or resistance seems to be conferred by these DQ molecules, where those determining resistance are dominant over those determining susceptibility. The degree of genetic predisposition to develop Type 1 diabetes carried by an individual would therefore be the result of his or her particular combination of DQ molecules. A primary association to particular DQ molecules explains previously found associations to other HLA complex genes by linkage disequilibrium. Some mechanisms by which particular DQ molecules may determine susceptibility or resistance are also discussed. Potential islet beta-cell reactive CD4+ T-cells may escape negative selection (deletion) in the thymus, but normally become anergized or remain ignorant extra-thymically. However, under particular circumstances they may be triggered. The DQ molecules associated with Type 1 diabetes susceptibility may preferentially bind and present triggering and/or beta-cell derived peptides to such T cells, causing beta-cell destruction. The finding that particular DQ molecules determine susceptibility may lead to new methods of preventing development of Type 1 diabetes in susceptible individuals.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Clinical rheumatology 3 (1984), S. 173-180 
    ISSN: 1434-9949
    Keywords: HLA ; Family Studies ; RA
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary In 9 families of which at least two members were affected by rheumatoid arthritis (RA), no specific combination of HLA genes, i.e., HLA haplotype was found to be associated with transmission of disease susceptibility. The results suggested an important role of HLA-DR4 in the etiology of RA, irrespective of other HLA markers. In addition, it may be concluded that genetic markers other than DR4 may act together with this HLA antigen in determining which individuals are at risk of developing this rheumatic disorder.
    Type of Medium: Electronic Resource
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