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  • 1
    Electronic Resource
    Electronic Resource
    Untersuchungen zur Populationsgenetik der Haptoglobin-Untergruppen (1966)
    Springer
    Annals of hematology 14 (1966), S. 97-100 
    Details
    ISSN: 1432-0584
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The results of the determination of haptoglobin-subtypes in some european and oriental populations are given. Within the european population the gene Hp1 is for the most part represented by the gene Hp1F. The rate of the genes Hp1F and Hp1S in the asiatic populations is not unitary. A comparison with the results of other authors is made.
    Notes: Zusammenfassung Von europäischen und asiatischen Populationen werden Ergebnisse der Haptoglobulinuntergruppen-Bestimmung mitgeteilt. Bei den europäischen Populationen stellt das Allel H1Fp den größten Anteil der Hp1-Allele. Das Verhältnis der Allele Hp1F zu Hp1S ist bei den verschiedenen Populationen uneinheitlich. Diese Ergebnisse werden verglichen mit den bisher vorliegenden Befunden anderer Arbeitskreise.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01633497
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  • 2
    Electronic Resource
    Electronic Resource
    Differenzierung von Pseudocholinesterase-Varianten im Diffusionstest (1964)
    Springer
    Journal of molecular medicine 42 (1964), S. 286-289 
    Details
    ISSN: 1432-1440
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary A modified method of the “screening test for the identification of the different pseudocholinesterase variants” is reported, which is specially suitable to identificate the atypical allele ChS and as a quick test for the investigation of families. A comparison with the spectrophotometrical test for enzyme activity and inhibitor constants shows, that this novel procedure is especially suitable in routinetests.
    Notes: Zusammenfassung Es wird eine modifizierte Methode des „Diffusionstestes15 zur Bestimmung von Pseudocholinesterase-Varianten“ speziell zur Erfassung des atypischen Allels ChS und als Schnelltest für Familienuntersuchungen mitgeteilt. Der Vergleich mit spektrophotometrischen Aktivitäts- und Inhibitortesten zeigt, daß diese neue Methode für Routinemessungen besonders geeignet ist.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01482376
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  • 3
    Electronic Resource
    Electronic Resource
    Quantitative Bestimmung und Phänotypisierung des Cäruloplasmins bei Morbus Wilson (1975)
    Springer
    Journal of molecular medicine 53 (1975), S. 731-734 
    Details
    ISSN: 1432-1440
    Keywords: Wilson's disease ; ceruloplasmin level ; ceruloplasmin phenotypes ; Wilsonsche Krankheit ; Cäruloplasmin-Konzentration ; Cäruloplasmin-Phänotypen
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Es wurden Seren von 17 Patienten mit Wilsonscher Krankheit und von 48 ihrer Verwandten im Hinblick auf eine mögliche Korrelation zwischen Cäruloplasmin-Phänotypen und der Wilsonschen Krankheit untersucht. Als Kontrollen dienten 727 gesunde Personen. Die quantitative Cäruloplasmin-Bestimmung bestätigte die aus der Literatur bekannte Überlappung der sog. Heterozygoten und Kontrollpersonen. Bezüglich der Cäruloplasmin-Phänotypen wurde bei Patienten, ihren Verwandten und den Kontrollpersonen ausschließlich der häufigste Phänotype BB in der Stärkegelelektrophorese gefunden; Patienten mit Wilson-Krankheit besitzen also normale Cp-Phänotypen.
    Notes: Summary Sera of 17 patients with Wilson's disease and of 48 relatives were investigated as to a possible correlation between ceruloplasmin phenotypes and Wilson's disease. The control group included 727 healthy subjects. The results of the quantitative determination of ceruloplasmin confirmed the overlapping in the groups of so-called heterozygotes and controls known from the literature. The ceruloplasmin phenotypes in starch gel electrophoresis we observed were of the most common phenotype Cp BB in the patients as well as in the controls. Therefore, patients with Wilson's disease also show the normal Cp-phenotypes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01468706
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  • 4
    Electronic Resource
    Electronic Resource
    Die Ausscheidung von β-Aminoisobuttersäure bei Gesunden und Kranken (1965)
    Springer
    Journal of molecular medicine 43 (1965), S. 93-97 
    Details
    ISSN: 1432-1440
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary 1. β-AIB excretion varies greatly from individual to individual, whereas normal day to day differences in β-AIB excretion rates for any one person appear to remain constant. 2. Impaired liver function does not markedly alter urinary β-AIB excretion. 3. Half of our patients with hemochromatosis excrete large amounts of β-AIB. 4. Impaired activities of α-ketoacid-oxydases in maple syrup urine disease have no apparent effect on β-AIB excretion.
    Notes: Zusammenfassung 1. Bei größerer interindividueller Schwankung zeigt die Ausscheidung von β-AIB im Urin eine erstaunliche intraindividuelle Konstanz. 2. Untersuchungen von Leberkranken ergaben, daß der Funktionszustand der Leber keinen wesentlichen Einfluß auf die Ausscheidung von β-AIB im Urin hat. 3. Die Hälfte der untersuchten Patienten mit Hämochromatose scheidet größere Mengen dieser Aminosäure aus. 4. Der bei der Ahorn-Sirup-Krankheit auftretende Enzymdefekt (Ausfall der α-Ketosäureoxydasen) hat keinen Einfluß auf die Menge der eliminierten β-AIB.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01485781
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  • 5
    Electronic Resource
    Electronic Resource
    Activity of creatine kinase isoenzyme MB in serum and red cell acetylcholinesterase variants in patients with duchenne muscular dystrophy (1977)
    Springer
    Journal of molecular medicine 55 (1977), S. 215-217 
    Details
    ISSN: 1432-1440
    Keywords: Muskeldystrophie Typ Duchenne ; Creatinkinase Isoenzym MB ; Acetylcholinesterase-Varianten ; Duchenne muscular dystrophy ; Creatine kinase isoenzyme MB ; Acetylcholinesterase variants
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Activity of creatine kinase isoenzyme MB in serum and variants of red cell acetylcholinesterase were determined in patients with Duchenne muscular dystrophy, in other forms of Dystrophy and in family members of Duchenne patients and healthy controls. Creatine kinase isoenzyme MB was observed only in all cases of DMD as well as variants of red cell acetylcholinesterase characterized by so-called inhibitor numbers. Carriers of Duchenne muscular dystrophy can be distinguished from Duchenne patients and healthy controls by estimation of Acetylcholinesterase variants.
    Notes: Zusammenfassung Die Aktivitäten der Creatinkinase und des Creatinkinase Isoenzyms MB im Serum sowie Varianten der Erythrozyten-Acetylcholinesterase wurden bei Patienten mit Muskeldystrophie Typ Duchenne (DMD) und anderen Formen sowie bei den Verwandten und gesunden Kontrollpersonen bestimmt. Nur bei Fällen von DMD konnten Creatinkinase-Isoenzyme MB wie auch Varianten der Acetylcholinesterase der Erythrozyten nachgewiesen werden.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01487713
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  • 6
    Electronic Resource
    Electronic Resource
    Pränataler Ausschluß eines Alpha-1-Antitrypsinmangels (1980)
    Springer
    Journal of molecular medicine 58 (1980), S. 617-624 
    Details
    ISSN: 1432-1440
    Keywords: Alpha-1-antitrypsin ; Prenatal diagnosis ; Amniocenthesis ; Congenital disorder ; Dysproteinemia ; Genfrequency ; Neonatal hepatitis ; Juvenile cirrhosis ; Emphysema ; Alpha-1-Antitrypsin ; Amniozentese ; Genetische Beratung ; Proteaseinhibitoren
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Bei der Mutter eines an juveniler Leberzirrhose bei Alpha-1-Antitrypsinmangel erkrankten Kindes wurde in ihrer erneuten Schwangerschaft der fetale Phänotyp Pi MZ durch Isoelektrofokussierung des Fruchtwassers festgestellt. Die quantitativen Werte des Alpha-1-Antitrypsins entsprachen denen von Kontrollfruchtwasserproben. Bei der Entbindung bestätigte eine Nabelschnurblutuntersuchung diesen Befund. Somit konnte erstmalig pränatal das Vorliegen eines schweren Alpha-1-Antitrypsinmangels Pi Z ausgeschlossen werden. In diesem Zusammenhang wird auf die klinische Bedeutung des Alpha-1-Antitrypsinmangels, seine Häufigkeit in der europäischen und nordamerikanischen Bevölkerung und die Prognose bei Vorliegen des Phänotyps Pi Z hingewiesen.
    Notes: Summary A mother had a child with cirrhosis of the liver and alpha-1-antitrypsin deficiency. In a subsequent pregnancy the fetal phenotype Pi MZ was detected by isoelectrofocussing in the amniotic fluid. Quantitative assay of alpha-1-antitrypsin gave results in the normal range. Umbilical vein blood analysis confirmed the antenatal findings. In this case it has been possibel to roole out the disease before birth. In this context the clinical importance of alpha-1-antitrypsin deficiency is stressed, its frequency in the European and North-American population and the prognosis with phenotype Pi Z.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01477837
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  • 7
    Electronic Resource
    Electronic Resource
    Heterozygotentest für die Ahorn-Sirup-Krankheit (1963)
    Springer
    Journal of molecular medicine 41 (1963), S. 953-954 
    Details
    ISSN: 1432-1440
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Zusammenfassung Es wird eine Methode zur Bestimmung der α-Ketoisocapronsäureoxydase-Aktivität in Leukocyten unter Verwendung14C-markierten Substrates angegeben. Am Beispiel einer Familienuntersuchung wird gezeigt, daß sie sich als Heterozygotentest für die Ahorn-Sirup-Krankheit eignet.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01478538
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  • 8
    Electronic Resource
    Electronic Resource
    Arbeitsvorschrift eines vereinfachten Heterozygotentestes für die Ahornsirup-Krankheit (1964)
    Springer
    Journal of molecular medicine 42 (1964), S. 818-819 
    Details
    ISSN: 1432-1440
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary In addition to the previously published heterozygote-test for maple syrup urine disease1, the procedure of a simplified assay is exactly described. By this method it is possible to designate heterozygotes with a satisfying certainty routinely.
    Notes: Zusammenfassung In Ergänzung zu unserem schon vorher beschriebenen Heterozygotentest für die Ahornsirup-Krankheit1 wird die genaue Arbeitsvorschrift für einen vereinfachten Heterozygotentest angegeben. Mit dieser Methode ist es möglich, routinemäßig Heterozygote mit genügender Sicherheit zu bestimmen.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01479137
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  • 9
    Electronic Resource
    Electronic Resource
    Human breast cancer: frequent p53 allele loss and protein overexpression (1993)
    Springer
    Human genetics 〈Berlin〉 90 (1993), S. 635-640 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A sample of 114 primary breast tumors and corresponding constitutional DNA were tested for loss of heterozygosity (LOH) of the YNZ22 and p53 genes, both located in the 17p13 region. Loss of the p53 allele was found in 28 of 44 primary breast carcinomas (64%). In contrast LOH in only 26 of 61 tumors (43%) was detected with the variable number of tandem repeats (VNTR) probe YNZ22 mapping at 17p13.3 close to the p53 locus at 17p13.1. Among 19 tumors informative for both probes allele loss at 17p13.3 never occurred without p53 involvement. These data suggest, that p53 is the target of 17p13 allelic deletions in human breast cancer. Immunohistochemistry showed overexpression of the p53 protein in 25 of 50 cases (50%) presumably reflecting activating point mutations. Overexpression was not correlated with allele loss but seemed to be closely related to the presence of point mutations in this study. No homozygous deletions or rearrangements of the p53 gene were detected. This would argue for an important role of heterozygous p53 mutations in human breast cancer.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00202481
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  • 10
    Electronic Resource
    Electronic Resource
    Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes? (1992)
    Springer
    Human genetics 〈Berlin〉 88 (1992), S. 288-294 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Cytogenetic and molecular genetic findings in 91 patients with Turner syndrome are reported. In 87 patients, chromosome studies were carried out both in lymphocyte and fibroblast cultures. Mosaicism was demonstrated in 58 of these patients (66.7%), whereas only 18 (20.7%) were apparent non-mosaic 45,X, and 11 patients (12.6%) showed non-mosaic structural aberrations of the X chromosome. Among the mosaic cases 16 (18.4% of all patients) displayed a second cell line containing small marker chromosomes. The association of Y-specific chromosomal material with the presence of marker chromosomes was demonstrated in 6 out of 7 mixoploid fibroblast cell lines by polymerase chain reaction amplification and by Southern-blot analysis. The observation of ring formation and morphological variability in vivo and in vitro, and the continous reduction in the percentage of cells containing marker chromosomes in longterm cultivation experiments indicated an increased instability of marker chromosomes. The findings suggest that in vivo selection of structurally altered sex chromosomes exists. Thus, the observation of apparent non-mosaic 45,X chromosomal complements in liveborn individuals with Turner syndrome does not contradict the hypothesis that some degree of mosaicism is necessary for survival in early pregnancy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00197261
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