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  • 1
    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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  • 2
    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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    Paper (German National Licenses)
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  • 3
    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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  • 4
    Electronic Resource
    Electronic Resource
    Nachweis von TyrosinasemRNA mittels Reverser Transkription/Polymerasekettenreaktion an Feinnadelpunktaten von Melanommetastasen (1996)
    Springer
    Der Hautarzt 47 (1996), S. 197-199 
    Details
    ISSN: 1432-1173
    Keywords: Schlüsselwörter Metastasierendes malignes Melanom ; Tyrosinase-mRNA ; Polymerasekettenreaktion ; Feinnadelpunktion ; Key words Metastatic malignant melanoma ; Tyrosinase-mRNA ; Polymerase chain reaction ; Fine-needle punctures
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Tyrosinase mRNA produced by melanoma cells can be detected by reverse transcriptase-polymerase chain reaction (rt-pcr) with fine-needle tissue punctures. Fine-needle punctures from six suspected skin and lymph node metastases in three patients with malignant melanoma were analysed via rt-pcr for tyrosinase mRNA. All the suspected metastases were surgically removed and histologically examined separately. In each case the rt-pcr results and the histological diagnosis corresponded. This less invasive and highly sensitive method could prove to be a useful alternative in the diagnosis of melanoma metastasis.
    Notes: Zusammenfassung Melanozytäre Zellen unterscheiden sich in ihrem Metabolismus von anderen Zellen durch die Expression des Enzyms Tyrosinase. Bei 3 Patienten mit malignem Melanom konnte an 6 Feinnadelpunktaten von fraglichen Haut- und Lymphknotenmetastasen die Tyrosinase-mRNA mittels Reverser Transkription/Polymerasekettenreaktion (RT/PCR) nachgewiesen werden. Die Veränderungen wurden im Folgenden operativ entfernt und histologisch aufgearbeitet. Die Ergebnisse der RT/PCR korrespondierten jeweils mit der histologischen Diagnose. Diese wenig invasive und sehr sensitive Methode der Feinnadelpunktion mit anschließender molekularbiologischer Untersuchung könnte für die Diagnostik von Melanommetastasen als Alternative zur diagnostischen Exzision bzw. Aspirationszytologie bedeutsam werden.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001050050402
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  • 5
    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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  • 6
    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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  • 7
    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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  • 8
    Electronic Resource
    Electronic Resource
    A1/A2 blood group variant due to fucosylation deficiency in carbohydrate deficient glycoprotein syndrome type I ? (1999)
    Springer
    European journal of pediatrics 158 (1999), S. 170-170 
    Details
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310051043
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  • 9
    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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  • 10
    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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