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  • 1
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 38 (1977), S. 289-296 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The vitamin D3 binding properties of the common and rare Gc variants were examined. Vitamin D3 labeled with 14C was added to serum. Gc phenotypes were demonstrated autoradiographically following separation by immunofixation electrophoresis on agarose. This qualitative analysis did not reveal differences in vitamin D3 binding by the group-specific components of the common types Gc1-1, Gc 2-1, and Gc2-2. The double-band variants Gc Darmstadt, Gc Y/Ab, Gc Toulouse, Gc Norway, and Gc Caucasian were examined; the phenotypes Gc Ab-Ab, Gc Ab-1, Gc Ab-2, Gc T-1, Gc T-2, Gc Norw-2, and Gc 1-Cau showed normal D3 binding. The double bands of Gc Darmstadt in the phenotype D-2 appeared somewhat weak. The singleband mutants Gc Wien, Gc Chippewa, Gc Opava, and Gc Z were analyzed; the phenotypes Gc W-1, Gc W-2, Gc Chip-1, Gc Chip-2, Gc 1-Op, Gc Op-2, Gc 1-Z, and Gc 2-Z showed normal D3 binding. A mutant in the Gc system with clearly defective vitamin D3 binding properties remains to be delineated.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The human serum transferrin (Tf) system was analyzed by isoelectric focusing (IEF) with immobilized pH gradients. For the demonstration of the genetic variability the Fe1-Tf region was chosen. The pH range suitable for analysis of the Tf system was pH 5.20 to pH 5.75. The phenotypes of the common six TfC subtypes are described. No further heterogeneity among TfC1, TfC2, and TfC3 was noted. Also presented are the phenotypes of the TfC6 subtype, and of three different TfB and three different TfD variants. IEF with immobilized pH gradients appears to be a suitable method for the analysis of the inherited transferrin polymorphism.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 44 (1978), S. 117-122 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Gc subtypes were determined by immunofixation isoelectric focusing. In a family study involving 93 families with a total of 176 children, a three-allele model with six genotypes was confirmed. The distribution of Gc subtypes was studied in three populations from Europe and in a sample of Druzes from Northern Israel. Three new variant Gc types were observed.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 50 (1979), S. 217-220 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The group-specific component (Gc) was examined in a sample of 78 chimpanzees (Pan troglodytes). With isoelectric focusing followed by immunofixation, two different phenotypes are observed. They both differ from the Gc types observed in man. Two alleles are postulated, one coding for a double-band component, the other coding for a single-band component. Neuraminidase experiments indicate the presence of sialic acid in the anodal component of the double-band pattern.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Common and rare Gc phenotypes were analyzed by agarose gel electrophoresis immunofixation and by isoelectric focusing immunofixation before and after neuraminidase treatment. There is a difference between Gc types with double-band and with single-band patterns. Neuraminidase affects only Gc types with a double-band pattern: The double-band pattern is reduced to a single-band pattern. The anodal band disappears after removal of sialic acid by enzymatic cleavage; the cathodal band remains unchanged in its position and becomes stronger. Single-band Gc phenotypes remain unaltered after neuraminidase treatment.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    International journal of legal medicine 88 (1982), S. 203-211 
    ISSN: 1437-1596
    Keywords: Blood groups, α1-antitrypsin ; PiM subtypes ; Paternity examinations ; Blutgruppen, α1-Antitrypsin ; PiM-Untergruppen ; Vaterschaftsuntersuchung
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Description / Table of Contents: Zusammenfassung Die Untergruppen des Protease-Inhibitors (Pi) α1-Antitrypsin wurden im Serum von 752 nichtverwandten Personen aus Süddeutschland bestimmt. Mit Hilfe der isoelektrischen Fokussierung ließen sich dabei neun häufige PiM-Untergruppen neben mehreren seltenen Pi-Varianten unterscheiden. Die Existenz eines vierten PiM-Subtypenallels wurde durch Familienuntersuchungen bewiesen. In unserer Stichprobe errechnete sich für PiM4 eine Allelfrequenz von 0.018. Die übrigen Allelfrequenzen wurden mit den Untersuchungsergebnissen anderer Autoren verglichen. Die Anwendung der Pi-Untergruppenbestimmung in der Vaterschaftsuntersuchung wird besprochen.
    Notes: Summary Subtypes of the protease inhibitor (Pi) α1-antitrypsin were determined in sera from 752 unrelated individuals from Southern Germany. By isoelectric focusing nine common PiM subtypes were distinguished and several rare Pi variants were observed. Family studies confirm the existence of a fourth PiM suballele. The frequency of PiM4 was found to be 0.018. A survey of the distribution of Pi alleles is given; the application of Pi subtyping in cases of disputed paternity is discussed.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    International journal of legal medicine 101 (1988), S. 99-104 
    ISSN: 1437-1596
    Keywords: Plasminogen (PLG), silent allele ; Paternity testing, plasminogen ; Plasminogen (PLG), stummes Allel ; Vaterschaftsbegutachtung, Plasminogen
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Description / Table of Contents: Zusammenfassung Bei Routineuntersuchungen der Vaterschaftsbegutachtung wurde in zwei verschiedenen Fällen eine entgegengesetzte Reinerbigkeit im Plasminogensystem (PLG) gefunden. In einem Fall zeigte das Kind den Phänotyp PLG A und der Putativvater den Typ PLG B. Der angebliche Vater konnte in 25 weiteren blutgruppenserologischen Merkmalsystemen nicht von der Vaterschaft ausgeschlossen werden (biostatistische Wahrscheinlichkeit für die Vaterschaft W〉99.75%). Im anderen Fall wurde eine Inkompatibilität zwischen Mutter und Kind festgestellt. Die PLG-Untersuchung erfolgte mit der isoelektrischen Fokussierung an Neuraminidasebehandelten Serumproben. Bei der immunologischen und funktionellen Detektion war in beiden Fällen das Bandenmuster der betroffenen PLG-Typen geringfügig abgeschwächt. Die Annahme eines stummen Allels im PLG-System wurde durch quantitative Untersuchungen bekräftigt. Für die süddeutsche Bevölkerung wurde eine Allelfrequenz PLG*Q0=0.0013 errechnet. In derselben Stichprobe erwies sich die PLG A3-Variante als polymorph.
    Notes: Summary Routine paternity testing has yielded two different cases of an apparent inverse homozygosity in the plasminogen (PLG) system. In one case, the child presented the phenotype PLG A and his putative father the type PLG B. The alleged father could not be excluded from the paternity in 25 additional blood group marker systems (biostatistical probability of paternity W〉99.75%). In the other case an incompatibility was found in a mother-child pair. Analysis of PLG was carried out by isoelectric focusing on neuraminidase-treated sera. In both cases the immunologic and functional detection showed weaker banding pattern of the affected PLG types. The assumption of a silent allele in the PLG system was confirmed by quantitative investigations. The allele frequency of PLG*Q0 in the South German population was estimated to be 0.0013. In the same sample the variant PLG A3 has been shown to be polymorphic.
    Type of Medium: Electronic Resource
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