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  • 1
    Electronic Resource
    Electronic Resource
    Two new Bf S subtypes revealed by isoelectric focusing and immunofixation (1984)
    Springer
    Human genetics 〈Berlin〉 68 (1984), S. 90-92 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The genetic types of the properdin factor B were analyzed by isoelectric focusing on polyacrylamide gels and subsequent immunofixation. Sera from 516 unrelated, healthy individuals from Southern Germany were examined. Two new subtypes of the Bf*S allele were observed. They were provisionally named Bf*Sb1 and Bf*Sb2 (b = basic), since the position of their bands is located slightly towards the cathode. Whereas Bf Sb2 has, thus far, been found only in a single individual, Bf Sb1 was found in five unrelated persons and in a mother and her child indicating a simple codominant mode of inheritance. The combined frequency of the Bf*Sb alleles was calculated to be 0.0067.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00293880
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  • 2
    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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  • 3
    Electronic Resource
    Electronic Resource
    Hexokinase isozymes in human neoplastic and fetal tissues: The existence of hexokinase II in malignant tumors and in placenta (1975)
    Springer
    Human genetics 〈Berlin〉 30 (1975), S. 181-185 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Die Verteilung elektrophoretischer Fraktionen der Hexokinase (HK, E.C.: 2.7.1.1.) in Extrakten 53 menschlicher Primärtumoren, homologen normalen Gewebes und fetaler Organe wurde untersucht. Die Fraktion HK II existiert in allen malignen Tumoren und im Placentagewebe.
    Notes: Summary The distribution of electrophoretic fractions of hexokinase (HK E.C. 2.7.1.1) in extracts of 53 human primary tumors, homologous normal tissues and fetal organs was investigated. It was found that the fraction HK II is present in every malignant tumor and in placenta tissue.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291952
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  • 4
    Electronic Resource
    Electronic Resource
    First determination of the isozyme patterns of phosphoglycerate mutases (E.C. 2.7.5.3) and phosphoglycerate kinases (E.C. 2.7.2.3) in human tissues (1975)
    Springer
    Human genetics 〈Berlin〉 27 (1975), S. 53-55 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Mit Hilfe der Stärkegelektrophorese und zwei verschiedenen Puffersystemen wurden mehrere Fraktionen mit Phosphoglycerat-Mutase (PGlyM)-Aktivität zum erstenmal identifiziert; eine typische Muskelform der PGlyM wurde entdeckt. Ferner wird gezeigt, daß Isoenzyme der Phosphoglycerat-Kinase (PGK) nach dem bei Spencer et al. (1964) angegebenen Puffer aufgetrennt werden können.
    Notes: Summary We present in this paper the first report about identification of several fractions of phosphoglycerate mutase (PGlyM) activity using starch gel electrophoresis and two different buffer systems. A typical muscle form of PGlyM was detected. It is also shown that isozymes of phosphoglycerate kinase (PGK) can be separated through the buffer system used by Spencer et al. (1964) for the phosphogluco mutase.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00283504
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  • 5
    Electronic Resource
    Electronic Resource
    The human red cell acid phosphatase activity and its statistical evaluation (1974)
    Springer
    Human genetics 〈Berlin〉 24 (1974), S. 213-215 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We examined 396 bloods samples of the five most common phenotypes of the human red cell acid phosphatase (E.C.3.1.3.2). The different enzyme activity of the individual phenotypes was statistically evaluated and an explanation was sought.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00283587
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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
    Zur Populationsgenetik der ABO-Blutgruppen. Beschreibung eines Programmes zur Berechnung der Gen-Frequenzen mit Hilfe des elektrischen Magnettrommel-Rechners IBM 650 (1960)
    Springer
    Annals of hematology 6 (1960), S. 134-142 
    Details
    ISSN: 1432-0584
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Zusammenfassung Nach einer kurzen Übersicht über bisherige Arbeiten zur regionalen Verteilung der ABO-Blutgruppen in kleinen, benachbarten Populationen wird ein Programm zur Berechnung der Gen-Frequenzen der Blutgruppen mit Hilfe des elektronischen Magnettrommel-Rechners IBM 650 beschrieben. Die Gen-Frequenzen werden hierbei nach der Maximum-Likelihood-Methode geschätzt, außerdem werden alle notwendigen Größen zur Prüfung der Homogenität der Gen-Frequenzen verschiedener Populationen errechnet. Auf die Bedeutung weiterer Untersuchungen der regionalen Verteilung der ABO-Blutgruppen wird hingewiesen und die Schwierigkeiten, die sich ihnen entgegenstellen, diskutiert. Die Verwendung einer elektronischen Rechenanlage zur Berechnung der Gen-Frequenzen kann hierbei eine große Hilfe sein.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01630018
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  • 8
    Electronic Resource
    Electronic Resource
    Populationsgenetische Untersuchungen über das Blutkörperchenmerkmal Gy (1962)
    Springer
    Annals of hematology 8 (1962), S. 161-166 
    Details
    ISSN: 1432-0584
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary 1. The proportion of Gy (++) in 7 separate samples in South Bavaria composed of 709 blood donors varies between 18.28% and 38.12%. The geographical groups shown here differ significantly from one another. 2. There is a relationship between A1A2BO and the reaction type Gy (++), and also between the presence of the phenotype A1 and (to a less extent) of the phenotype AB inasmuch as the reaction type Gy (++) occurs too often, while, on the other hand, when the phenotype is B, A2 or O, the reaction txpe Gy (++) occours too rarely. 3. The regional differences in the frequency of the reaction type Gy (++) cannot be attributed to the corresponding differences in the distribution of the A1A2BO system.
    Notes: Zusammenfassung 1. Der Anteil der Gy (++)-Personen schwankt bei 7 verschiedenen Stichproben des südbayerischen Raumes, die sich aus insgesamt 709 Blutspendern zusammensetzt, zwischen 18,28% und 38,12%. Die 3 gebildeten geographischen Gruppen sind voneinander signifikant verschieden. 2. Es besteht insofern ein Zusammenhang zwischen A1A2BO und dem Reaktionstyp Gy (++), als bei Vorhandensein des Phänotyps A1 und (in geringerem Maße) des Phänotyps AB der Reaktionstyp Gy (++) zu häufig auftritt; bei Vorhandensein des Phänotyps B, A2 oder 0 ist der Reaktionstyp Gy (++) dagegen zu selten. 3. Die regionalen Unterschiede in der Häufigkeit des Reaktionstyps Gy (++) lassen sich nicht auf entsprechende Verteilungsunterschiede im A1A2BO-System zurückzuführen.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01631170
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  • 9
    Electronic Resource
    Electronic Resource
    Pi subtyping by isoelectric focusing: Further genetic studies and application to paternity examinations (1980)
    Springer
    International journal of legal medicine 86 (1980), S. 1-7 
    Details
    ISSN: 1437-1596
    Keywords: Serum groups, a 1-antitrypsin ; Pi-subtypes, isoelectric focusing ; Paternity examinations, Pi-subtypes ; Pi-Untergruppen, Isoelektrofokussierung ; Vaterschaftsbegutachtung, Pi-Untergruppen ; Blutgruppen, a 1-Antitrypsin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Description / Table of Contents: Zusammenfassung Die genetischen Variationen des Protease-Inhibitors (Pi) a 1-Antitrypsin wurden mit Hilfe der Isoelektrofokussierung in einer Stichprobe von 347 nicht verwandten Personen aus Süddeutschland untersucht. Es wurden sechs häufige PiM-Untergruppen und die relativ häufigen Varianten PiS und PiZ differenziert; zudem fanden sich die seltenen Varianten PiT, Pi〈L, PiL, PiI, PiF sowie eine als PiZl bezeichnete Variante. In dieser Stichprobe wurden folgende Allelfrequenzen berechnet: PiM1=0.6917, PiM2=0,1686, PiM3=0,0865, PiS=0,0230, PiZ=0,0187 und Pi*=0,0115. In 82 Familien fand sich keine Abweichung vom angenommenen autosomal kodominanten Vererbungsmodus. Die Verwendbarkeit des Pi-Systems für die Paternitätsbegutachtung wird diskutiert.
    Notes: Summary Genetic variation of the protease inhibitor (Pi) a 1-antitrypsin was analyzed by isoelectric focusing on polyacrylamide gels in a sample of 347 unrelated individuals from Southern Germany. Six common subtypes of PiM were observed as well as the relatively frequent variants PiS and PiZ and the rare variants PiT, Pi〈L, PiL, PiI and PiF. Also, a variant called PiZl was found. The frequency of alleles in this sample was PiM1=0.6917, PiM2=0.1686, PiM3=0.0865, PiS=0.0230, PiZ=0.0187, and Pi*=0.0115. In 82 families the distribution of Pi types was in agreement with an autosomal codominant mode of inheritance. The application of Pi classification in cases of disputed paternity is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00200971
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  • 10
    Electronic Resource
    Electronic Resource
    Properdin factor B-polymorphism (1979)
    Springer
    International journal of legal medicine 83 (1979), S. 259-264 
    Details
    ISSN: 1437-1596
    Keywords: Serum groups ; properdin factor B ; Bf-polymorphism ; Bf0-allele ; Serumgruppen ; Properdin Faktor B ; Bf-Polymorphismus ; Bf0-Allel
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Description / Table of Contents: Zusammenfassung Unter Verwendung der Agarosegel-Hochspannungselektrophorese mit darauffolgender Immunofixation wurde der Polymorphismus des Properdin-Faktors B (Bf, C3-Proaktivator, GBG = Glyzin-reiches β- Glykoprotein) bei 1115 nicht verwandten Personen aus Süddeutschland untersucht. Sieben Phänotypen wurden beobachtet und folgende Allel- frequenzen berechnet: BfS = 0,8094, BfF = 0,1790, BfS1 = 0,0094 und BfF1 = 0,0022. Die Untersuchung von 94 Elternpaaren mit 98 Kindern und 420 Mutter-Kind-Verbindungen erbrachte keine Abweichungen vom angenommenen autosomal kodominanten Erbgang des Bf-Merkmals. In einer weiteren Familie ergab sich ein Hinweis für die Existenz eines stummen Allels auf dem Bf-Locus.
    Notes: Summary The polymorphism of the properdin factor B (Bf, C3-proactivator, GBG = glycin-rich-β-glycoprotein) has been investigated by high voltage agarose gel immunofixation electrophoresis in 1115 unrelated persons from Southern Germany. Seven phenotypes were observed; the allele frequencies were calculated as Bfs = 0.8094, BfF = 0.1790, BfS1 = 0.0094, BfF1 = 0.0022. A study of 94 parents with 98 children and 420 mother-child combinations showed no deviation from the assumed autosomal codominant mode of inheritance. In one additional family the findings suggested the existence of a silent allele at the Bf-locus.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02333329
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