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  • 1
    ISSN: 1432-1076
    Keywords: Bp-deficiency (4p—; 5p— syndrome) ; Sound Spectrograms in Cri du chat-Syndrome ; Cytogenetic and Dermatoglyphic Data ; Exclusion of Gene Localization
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Bericht über 6 Patienten im Alter von 10 Tagen, 7 Wochen, 23/4, 3, 5 und 81/2 Jahren mit einer partiellen Deletion der kurzen Arme eines Chromosoms der B-Gruppe (Bp-). Diese Defizienz variierte interindividuell zwischen ca. 20–80% der Länge des kurzen Armes des betroffenen Chromosoms. Auf Grund unterschiedlicher klinischer, daktyloskopischer, schallanalytischer Befunde und autoradiographischer Studien wurden 5 Patienten als Cri du chat-Syndrom und 1 Patient als 4p—Syndrom diagnostiziert und die Unterschiede beider Krankheitsbilder diskutiert. Die Untersuchung von genetischen Markern ergab keine irreguläre Vererbung, einschließlich des beim Cri du chat-Syndrom und beim 4p—Syndrom bisher nicht untersuchten C′3 (β 1C)-Komplements.
    Notes: Abstract This is a report of 6 patients (10 days, 7 weeks, 23/4, 3,5 and 81/2 years old) with partial deletion of the short arm of the chromosomes 4 and 5, 4p— and Cri du chat (5p—)-syndrome. This deficiency varied interindividually, and was observed to be in the range of 20–80% of the length of the short arm of the deleted chromosome. The diagnosis of Cri du chat (5 patients) and of 4p— syndrome (1 patient) was based on various clinical observations, dermatoglyphic pecularities, sound spectrograms, and autoradiographic studies. Examination of genetic markers revealed no irregular inheritance, including the C′3 (β 1C) complement which had not been examined previously in the Cri du chat and the 4p— syndrome.
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  • 2
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
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  • 3
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
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  • 4
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Zwei Seren des Phänotypus Ch1SS, die unter Standardtestbedingungen keine Pseudocholinesteraseaktivität aufwiesen, wurden mit Hilfe der Stärkegel-Elektrophorese, der Mikromanometrie und mit immunologischen Methoden näher untersucht. Nach elektrophoretischer Auftrennung läßt sich in diesen “silent gene”-Seren eine Pseudocholinesteraseaktivität nachweisen; im Vergleich zu der Aktivität von Normalserum erscheint diese sehr gering und läßt sich nur in der c4-Zone erkennen. Die Identifizierung gelingt mit Hilfe spezifischer Färbeverfahren unter Verwendung verschiedener Substrate und Inhibitoren. Die quantitative Bestimmung von Pseudocholinesteraseaktivität im “silent gene”-Serum mit mikromanometrischen Methoden ergab eine Aktivität von 2–3% gegenüber den Kontrollen (Benzoylcholin als Substrat). Durch Immunisierung von Kaninchen mit gereinigtem Pseudocholinesteraseprotein wurden Antiseren erhalten; zwischen “silent gene”-Serum und diesen Antiseren konnten Präzipitationsreaktionen im Immuno-Diffusionstest, in der Immuno-Elektrophorese und mit einer Immuno-Adsorptionsmethode nachgewiesen werden. Diese Ergebnisse lassen annehmen, daß bei den von uns untersuchten Fällen das “silent gene” im Pseudocholinesterasepolymorphismus eine Enzymproteinsynthese steuert; das nachgewiesene Pseudocholinesteraseprotein scheint sich qualitativ von dem Enzymprotein des Normalserums zu unterscheiden.
    Notes: Abstract Two sera “without” pseudocholinesterase activity corresponding to the homozygous phenotype Ch1SS are examined by electrophoretical, manometric, and immunological methods. These “silent gene” sera show no activity under the common conditions (spectrophotometric assay). After electrophoretical separation of “silent gene” serum an esterase activity is found which can be identified as pseudocholinesterase activity, although it is weak in comparison with the activity of usual sera. The pseudocholinesterase activity of “silent gene” serum can be demonstrated only in the zone “c4” where 90% of the total activity is present if usual serum is inserted. The identification has been achieved by staining procedures applying several substrates and inhibitors. Quantitative estimation of this pseudocholinesterase activity was carried out by micromanometric assays with benzoylcholine as substrate. The activity of “silent gene” sera was 2–3% of normal serum. Antisera against human pseudocholinesterase-protein have been obtained by immunization of rabbits with a highly purified enzyme protein. Between these antisera and the homozygous “silent gene” sera precipitates were found in immuno double-diffusion tests and immunoelectrophoresis. They could be identified as pseudocholinesterase protein by esterase staining under various conditions. Quantitative estimations have been carried out by immuno-adsorption assays comparing the amount of antibody fixed by usual serum and by “silent gene” serum. The results presented in this paper suggest that the “silent gene” in pseudocholinesterase polymorphism induces in these two cases the synthesis of an enzyme protein which is similar to the enzyme protein of usual pseudocholinesterase. The weak activity is due to a qualitative difference between “silent gene” enzyme protein and the normal pseudocholinesterase protein. A structural alteration of the enzyme protein is assumed to be more likely than a quantitative difference in protein synthesis.
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  • 5
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
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  • 6
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Die Methoden zur Testung der Oxidasen für die verzweigtkettigen α-Ketosäuren in Leukocyten und Fibroblasten werden beschrieben. Im peripheren Blut sind diese Enzyme bevorzugt in den Lymphocyten lokalisiert. In den Leukocyten wird die intraindividuelle Variation der Enzymaktivitäten durch Berücksichtigung des Differentialblutbildes verringert. Die interindividuelle Variation bleibt dagegen unverändert. — Für die Enzymaktivitäten von Normalpersonen und Eltern von Patienten mit klassischer Ahornsirupkrankheit bleibt damit ein Überlappungsbereich bestehen. Als mögliche Erklärung werden multiple Allelie und multifaktorielle Determinierung von Enzymaktivitäten diskutiert. Bisher gewonnene Ergebnisse lassen vermuten, daß bei der klassischen Form der Ahornsirupkrankheit alle drei Oxidasen für die verzweigtkettigen α-Ketosäuren defekt sind. Neuere Untersuchungen über die intermittierende Form der Ahornsirupkrankheit werden mitgeteilt. Die Erkennung von Heterozygoten in Testen mit Fibroblasten ist erschwert, da die Abhängigkeit der Aktivität der α-Ketosäure-Oxidasen von den Kulturbedingungen noch nicht genügend geklärt ist. Es ist dagegen möglich, Patienten mit der klassischen und der intermittierenden Form der Ahornsirupkrankheit durch enzymatische Teste an Fibroblasten zu erkennen.
    Notes: Summary Methods are given in detail to assay branched chain keto acid oxidases in native leucocytes and fibroblasts. In peripheral blood these enzymes are located preferentially in lymphocytes. The intraindividual variation of enzyme activities in leucocytes is reduced by correcting for the number of lymphocytes. In contrast, interindividual variation remains unchanged. Consequently, an overlap between enzyme activities of control persons and heterozygotes for classic maple syrup urine disease still exists. For explanation multiple alleles and influence of genetic background on enzyme activities are invoked. Arguments are given for the simultaneous defect of the three branched chain keto acid oxidases in classic maple syrup urine disease. Furthermore some new observations on the intermittent type of maple syrup urine disease are given. Tests for heterozygosity in fibroblasts are complicated because of environmental influences in cultures which are not fully understood at present. However, the enzymatic defect is clearly demonstrated in fibroblasts of patients with the classic type and the intermittent type of maple syrup urine disease.
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  • 7
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Frequencies of the dibucaine resistant variant of pseudocholinesterase and of the electrophoretic C5 + component have been investigated in a sample of 992 Finnish Lapps and 317 Finns. Skolt Lapps show distinctly higher values than the other Lapps and Finns of this area. The lowest frequency of the C5 + component has been found in Finns. The frequencies found in the various population groups of this study fit well into the range reported for the human populations studied so far.
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  • 8
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Starch-gel electrophoresis for adenylate kinase (AK) was performed on 2519 haemolysates from 6 population samples of unrelated males in Finland, 4 Finnish Lapp populations, the Maris (Cheremisses) in the USSR, and an Eskimo population in NW Greenland. Between the Finland Swedes and Finns no significant difference in AK polymorphism was observed and the allele frequency estimates of AK were comparable with those found in other Europeans. The indigenous “pure” Skolt Lapps showed absence of the AK2 gene, which was also extremely low in the Fisher and Mountain Lapps. All the Lapp populations so far studied show an extremely low frequency of the AK2 gene. The rarity of AK2 in Lapps may offer a better approach to the estimation of intermixture than certain other genes which vary in frequency in different Lapp populations. Among the Maris AK2 frequencies are lower (0.017) than among other Europeans. The AK2 was also very low (0.016) in the Greenland Eskimo population on Augpilagtok Island. The results obtained for the AK phenotypes in 149 Lapp families and in 84 mothers and their children are in agreement with the hypothesis that AK1 and AK2 are alleles at one and the same autosomal locus. The present family and mother-child studies add further evidence for the acceptance of the AK system as a valuable tool in cases of disputed paternity.
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 24 (1974), S. 231-233 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Transferrin (Tf) variants were determined in the serum of 1385 persons from the districts of Nakon Thai, Wang Thong, Bang Rakam, Bang Krathum, Prom Piran, Wat Bot, and Phitsanolok in Central Thailand. Besides the common phenotype CC, we also observed CD1, CDChi, and DChiDChi variants.
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  • 10
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
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