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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: Insulin gene polymorphism ; HLA class II genotypes ; transracial comparison ; IDDM ; genetic susceptibility
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Previous studies have suggested an association between polymorphisms in the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Most of the studies so far have been performed in Caucasoid populations. We have investigated 418 random IDDM patients and 422 healthy control subjects from three different ethnic groups; Tanzanian blacks, Norwegian Caucasians and Japanese orientals. Our data suggest that polymorphisms in the insulin gene region confer susceptibility to IDDM in Caucasians, and that a similar tendency though not statistically significant is observed among Tanzanian blacks, while no significant contribution is seen among Japanese orientals. We further demonstrate that the disease-associated genotype INS +/+ confers susceptibility independently of HLA class II alleles associated with IDDM. Compared to the contribution of particular HLA-DQ alleles in IDDM susceptibility, the additional risk conferred by the insulin gene region polymorphism is, however, small. Genotyping of the insulin gene region will therefore most probably not be a useful tool in the prediction of IDDM.
    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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