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  • 1
    Electronic Resource
    Electronic Resource
    Transferrin variants in Tuscany (Italy). Evidence for two “new” Tf alleles (1985)
    Springer
    Human genetics 〈Berlin〉 69 (1985), S. 284-286 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Polyacrylamide gel isoelectric focusing (PAGIF) with carrier ampholytes was used for the determination of Tf phenotypes in a sample of 965 unrelated healthy blood donors from Tuscany (Italy). Thirteen rare variants in a heterozygote state were found (four Tf D, seven Tf B, and two rare Tf C subtypes). Among them two apparently new variants, tentatively called Tf C15 and Tf B4, were identified. The rare Tf B0 mutant was also observed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00293043
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  • 2
    Electronic Resource
    Electronic Resource
    PI Scologne: a new variant in the alpha-1-antitrypsin system (1988)
    Springer
    Human genetics 〈Berlin〉 80 (1988), S. 102-102 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The detection of PI Scologne, a rare variant in the alpha-1-antitrypsin system, by means of isoelectric focusing is described.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00451468
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  • 3
    Electronic Resource
    Electronic Resource
    Three new orosomucoid (ORM) variants revealed by isoelectric focusing and print immunofixation (1987)
    Springer
    Human genetics 〈Berlin〉 77 (1987), S. 286-288 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Phenotypes of orosomucoid (ORM) in human sera have been analysed by isoelectric focusing and print immunofixation. After neuraminidase treatment the band patterns indicated that the polymorphism of the structural locus ORM1 is controlled by three autosomal codominant alleles. According to the previous nomenclature they were called ORM1*F1, ORM1*F2, and ORM1*S. In a study of 272 unrelated individuals from southern Germany, five of the six expected common ORM1 subtypes were observed. Furthermore, we found three ORM variant phenotypes which have not been reported previously. These variants were characterized by additional bands in a cathodal position. One variant had additional double bands and presumably represents a rare ORM1 variant named ORM1S1. Two variants had additional single bands. They were assigned tentatively to the ORM2 gene locus. While the common gene product of ORM2 may be called ORM2A, the two variants are named ORM2B1 and ORM2B2, respectively. ORM2B1 has, thus far, been found only in a single individual; the variants ORM1S1 and ORM2B2 were found in a father-child pair and a mother-child pair, respectively. The frequency for variants tentatively assigned to the ORM2 locus is very low and was calculated to be 0.0037.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00284488
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  • 4
    Electronic Resource
    Electronic Resource
    Extended polymorphism of the human esterase D isozyme system: description of a “new” allele EsD*11 (1986)
    Springer
    Human genetics 〈Berlin〉 73 (1986), S. 89-90 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Using “new” techniques (malic acid thin layer agarose gel electrophoresis and/or isoelectric focusing), the polymorphism of the human red cell isozyme system esterase D (ESD) was shown to be extended. We report the gene frequencies observed among 312 unrelated Caucasian individuals living in the Düsseldorf area. The finding of a “new” allele at the ESD locus is also described.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00292672
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  • 5
    Electronic Resource
    Electronic Resource
    Alpha-1-antitrypsin: Evidence for a fifth PI M subtype and a new deficiency allele PI*ZAugsburg (1985)
    Springer
    Human genetics 〈Berlin〉 71 (1985), S. 27-29 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The phenotypes of the protease inhibitor (PI) alpha-1-antitrypsin have been analyzed by isoelectric focusing on polyacrylamide gels. With improved resolution by a modified procedure it was possible to demonstrate a fifth PI*M suballele. The bands of PI M5 are located between PI M1 and PI M3. In addition, a further deficiency allele similar to PI*Z was found in a female patient with obstructive pulmonary disease. This variant was provisionally named PI Zaugsburg (PI Zaug). Family data confirm a simple codominant mode of inheritance for PI Zaug.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00295662
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  • 6
    Electronic Resource
    Electronic Resource
    AIDS: No association with the genetic systems GC (D-binding protein), ORM (orosomucoid = alpha-1-acid glycoprotein), and A2HS (alpha-2-HS-glycoprotein) (1988)
    Springer
    Infection 16 (1988), S. 31-35 
    Details
    ISSN: 1439-0973
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Eine Stichprobe von 97 HIV-1 seropositiven Personen wurde untersucht, darunter befanden sich 34 Patienten mit AIDS, 30 Patienten mit persistierender generalisierter Lymphadenopathie sowie 33 Personen ohne jegliche Symptome, die als “gesund” bezeichnet wurden. In dieser Stichprobe wurden drei genetische Systeme von Plasmaproteinen untersucht: 1. GC, die gruppenspezifische Komponente des Serums, die mit dem Vitamin-D-bindenden Protein (DBP) identisch ist, 2. Orosomukoid, das akute-Phase Protein Orosomukoid, welches auch als Alpha-1-saures Glykoprotein bezeichnet wird und 3. A2HS, das anti-akute-Phase Protein Alpha-2-HS-Glykoprotein. Die Verteilung der Genotypen und der Allele in diesen drei Systemen entsprach bei Patienten mit AIDS und bei HIV-1 seropositiven Personen der Verteilung bei Kontrollgruppen. Ein Zusammenhang zwischen Anfälligkeit für, bzw. Resistenz gegen AIDS und diesen drei genetischen Systemen besteht nicht.
    Notes: Summary In a sample of 97 HIV-1 seropositive persons which comprised 34 patients with AIDS, 30 patients with persistent generalized lymphadenopathy or with AIDS related complex and 33 persons who were without symptoms and called “healthy”, three genetic marker systems were examined: 1) GC, the group-specific component of serum which is identical with the vitamin D binding protein (DBP) of serum, 2) ORM, the acute phase protein orosomucoid = alpha-1-acid glycoprotein of serum, and 3) A2HS, the alpha-2-AS glycoprotein of serum. The distribution of the genotypes and of the alleles in the sample of AIDS patients and of HIV-1/positive persons was not different from the distribution in control groups. An association between susceptibility and/or resistance for AIDS and these genetic marker systems was not observed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01646929
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  • 7
    Electronic Resource
    Electronic Resource
    Plasminogen (PLG): A useful genetic marker for paternity examinations (1985)
    Springer
    International journal of legal medicine 94 (1985), S. 165-171 
    Details
    ISSN: 1437-1596
    Keywords: Plasminogen (PLG), Genetic polymorphism ; Paternity testing ; Plasminogen (PLG), Genetischer Polymorphismus ; Vaterschaftsuntersuchung
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Description / Table of Contents: Zusammenfassung Der genetisch determinierte Polymorphismus des Plasminogens (PLG) wurde mit der isoelektrischen Fokussierung auf Polyacrylamidgelen untersucht. Für die Untersuchungen wurden Neuraminidase behandelte Serumproben verwendet. Der PLG-Nachweis erfolgte funktionell durch Urokinaseaktivierung und darauffolgender Lyse von Casein im Agar-Overlay. Bei einer Stichprobe von 957 nichtverwandten, gesunden Personen aus dem süddeutschen Raum wurden drei häufige Phänotypen PLG1, 2-1 und 2 sowie fünf seltene Varianten gefunden. Folgende Allelfrequenzen wurden ermittelt: PLG*1=0,7174, PLG*2=0,2780 und PLG*Var=0,0046. Aufgrund unserer Untersuchungsergebnisse errechnet sich für das PLG-System eine theoretische Ausschlußchance von 16,5%.
    Notes: Summary The genetically determined polymorphism of plasminogen (PLG) was analyzed by isoelectric focusing on polyacrylamide gels. For analysis neuraminidase-pretreated sera were used. PLG was developed functionally by activation with urokinase and subsequent lysis of casein in an agar overlay. In a random sample of 957 unrelated healthy individuals from Southern Germany, three common phenotypes, PLG1, 2-1, and 2, and five rare variants were found. The allele frequencies were: PLG*1=0.7174, PLG*2=0.2780, and PLG*Var=0.0046. The theoretical exclusion rate in cases of disputed paternity is 16.5%.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00204080
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  • 8
    Electronic Resource
    Electronic Resource
    “New” phenotypes in the human red cell isozyme system ADA (1986)
    Springer
    International journal of legal medicine 96 (1986), S. 159-161 
    Details
    ISSN: 1437-1596
    Keywords: ADA, rare variant phenotypes ; ADA*9 ; ADA, seltene Phänotypen ; ADA*9
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Description / Table of Contents: Zusammenfassung Bei einem Mutter-Kind-Paar aus Deutschland fanden wir zwei seltene ADA-Phänotypen. Wir können die Möglichkeit nicht ausschließen, daß es sich bei dieser Variante um die gleiche handelt, die in Bulgarien gefunden und dem Allel ADA*9 zugeordnet wurde. Eine vergleichende Untersuchung war nicht möglich.
    Notes: Summary Two rare ADA phenotypes were observed in a German mother and her child. These phenotypes may be due to the allele ADA*9 previously found in Bulgaria.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00198633
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  • 9
    Electronic Resource
    Electronic Resource
    Further evidence of a silent plasminogen (PLG) allele in two paternity cases (1988)
    Springer
    International journal of legal medicine 101 (1988), S. 99-104 
    Details
    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
    URL: http://dx.doi.org/10.1007/BF00200291
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