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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    International journal of legal medicine 107 (1995), S. 201-203 
    ISSN: 1437-1596
    Keywords: Short tandem repeat (STR) systems ; HumACTBP2 ; HumVWA ; New mutations ; Sequencing ; Short Tandem Repeat (STR) Systeme ; HumACTBP2 ; HumVWA ; Neumutationen Sequenzierung
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Description / Table of Contents: Zusammenfassung Untersucht wurden isolierte Vater/ Kind-Ausschlüsse mit Short Tandem Repeat (STR)-Systemen in Paternitätsfällen mit sehr hoher Vaterschaftswahr-scheinlichkeit (W 〉 99.9%). Aufgrund der hohen Vaterschaftswahrscheinlichkeit war von Neumutationen auszugehen. Mit dem STR-System HumACTBP2 wurde eine Neumutation in 3 Paternitätsfällen beobachtet. In 2 Fällen wurde eine Deletion und in einem Fall eine Insertion um jeweils 1 Repeat (AAAG-Motiv) durch Sequenzierung nachgewiesen. Im HumVWA-System konnte in einem weiteren Paternitätsfall eine 1-Repeat-Insertion (TCTA-Motiv) durch Sequenzierung bestätigt werden. Die 3 beobachteten Neumutationsfälle ergaben für HumACTBP2 eine Mutationsrate von 0.7% (n = 453 Meiosen). Für Hum-VWA lag die Mutationsrate bei 0.2% (n = 484 Meiosen).
    Notes: Abstract Isolated father/child mismatches in cases with a high probability of paternity (W 〉 99.9%) have been investigated using short tandem repeat (STR) systems. According to the high probability of paternity new mutations could be assumed in these cases. A new mutation could be observed in 3 cases using the STR system HumACTBP2. Two of these cases showed a deletion and 1 case an insertion of 1 repeat (AAAG-motif) which could be verified by sequencing. In another paternity case a new mutation - 1 - repeat insertion (TCTA-motif) - in the HumVWA system was detected and verified by sequencing. These findings led to a new mutation rate of 0.7% (n = 453 meioses) for HumACTBP2 and 0.2% for HumVWA (n = 484 meioses).
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    International journal of legal medicine 108 (1995), S. 110-112 
    ISSN: 1437-1596
    Keywords: Short tandem repeats ; HumTHO1 ; HumVWA ; HumACTBP2 ; Population studies ; Southern Turkey
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Notes: Abstract Population genetic studies were carried out on Caucasians from southern Turkey (n = 204 individuals) using the short tandem repeat (STR) systems HumTHO1, HumVWA and HumACTBP2. After electrophoresis in polyacrylamide gels, 6 alleles could be identified for HumTHO1, 7 alleles for VWA and 26 alleles for ACTBP2. No significant deviations from Hardy-Weinberg equilibrium could be observed.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    International journal of legal medicine 107 (1995), S. 219-221 
    ISSN: 1437-1596
    Keywords: Short tandem repeats ; HumTHO1 ; HumVWA ; HumACTBP2-Population studies ; Zagreb area ; Short tandem repeats ; HumTHO1 ; HumVWA ; HumACTBP2 ; Populationsstudien ; ZagrebRegion
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Description / Table of Contents: Zusammenfassung Populationsstichproben nordwestkroatischer Kaukasier (Zagreb-Region) wurden mit den 3 Short tandem repeat (STR) Systemen HumTHO1, Hum-VWA und HumACTBP2 untersucht. Nach elektrophoretischer Auftrennung der Fragmente in PAG konnten 6 Allele für HumTHO1 in einer Bevölkerungsstichprobe von 100 nicht verwandten Personen und 7 Allele für Hum-VWA differenziert werden. Für ACTBP2 ließen sich 25 Allele unterscheiden. Eine signifikante Abweichung vom Hardy-Weinberg-Gleichgewicht wurde nicht festgestellt.
    Notes: Abstract Population genetic studies were carried out on Caucasians from north-west Croatia (Zagreb-area) using the short tandem repeat (STR) systems HumTHO1, HumVWA and HumACTBP2. After electrophoresis in PAG, 6 alleles could be identified for HumTHO1 in a sample size of 100 unrelated individuals and 7 alleles were found for VWA. For ACTBP2, 25 alleles have been identified. No significant deviations from Hardy-Weinberg equilibrium could be observed.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
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