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  • 1
    Electronic Resource
    Electronic Resource
    Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene (1996)
    Springer
    Human genetics 〈Berlin〉 99 (1996), S. 93-97 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Fanconi anaemia (FA) is an autosomal recessive disease characterised by genetic heterogeneity, with at least five complementation groups (FA-A to FA-E). The FAC gene has been cloned and localised to 9q22.3. The most frequent defective gene, FAA, was recently mapped to chromosome 16q24.3, in a region of 10 cM between D16S498 and the telomere. Eleven FA-A and 16 unclassified Italian families were analysed by microsatellite markers. To define the localisation of the FAA locus further, microsatellites were analysed at 16q24. All the families were consistent with linkage, the highest lod score being observed with D16S1320. Evidence for common haplotypes was obtained in two genetic isolates from the Brenta basin and the Naples region. Autozygosity mapping and haplotype analysis suggest that the FAA locus is distal to D16S305.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050318
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  • 2
    Electronic Resource
    Electronic Resource
    Energetics of mixotrophic and autotrophic C1-metabolism by Thiobacillus acidophilus (1990)
    Springer
    Archives of microbiology 154 (1990), S. 576-583 
    Details
    ISSN: 1432-072X
    Keywords: Thiobacillus acidophilus ; Acidophiles ; Mixotrophic growth ; Chemostat cultures ; Formate metabolism ; Formaldehyde metabolism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Although the facultatively autotrophic acidophile Thiobacillus acidophilus is unable to grow on formate and formaldehyde in batch cultures, cells from glucose-limited chemostat cultures exhibited substrate-dependent oxygen uptake with these C1-compounds. Oxidation of formate and formaldehyde was uncoupler-sensitive, suggesting that active transport was involved in the metabolism of these compounds. Formate- and formaldehyde-dependent oxygen uptake was strongly inhibited at substrate concentrations above 150 and 400 μM, respectively. However, autotrophic formate-limited chemostat cultures were obtained by carefully increasing the formate to glucose ratio in the reservoir medium of mixotrophic chemostat cultures. The molar growth yield on formate (Y=2.5 g ·mol-1 at a dilution rate of 0.05 h-1) and RuBPCase activities in cell-free extracts suggested that T. acidophilus employs the Calvin cycle for carbon assimilation during growth on formate. T. acidophilus was unable to utilize the C1-compounds methanol and methylamine. Formate-dependent oxygen uptake was expressed constitutively under a variety of growth conditions. Cell-free extracts contained both dye-linked and NAD-dependent formate dehydrogenase activities. NAD-dependent oxidation of formaldehyde required reduced glutathione. In addition, cell-free extracts contained a dye-linked formaldehyde dehydrogenase activity. Mixotrophic growth yields were higher than the sum of the heterotrophic and autotrophic yields. A quantitative analysis of the mixotrophic growth studies revealed that formaldehyde was a more effective energy source than formate.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00248839
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  • 3
    Electronic Resource
    Electronic Resource
    Heterotrophic growth of Thiobacillus acidophilus in batch and chemostat cultures (1990)
    Springer
    Archives of microbiology 153 (1990), S. 392-398 
    Details
    ISSN: 1432-072X
    Keywords: Thiobacillus acidophilus ; Acidophiles ; Maintenance ; Growth yields ; Organic acids
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Heterotrophic growth of the facultatively chemolithoautotrophic acidophile Thiobacillus acidophilus was studied in batch cultures and in carbon-limited chemostat cultures. The spectrum of carbon sources supporting heterotrophic growth in batch cultures was limited to a number of sugars and some other simple organic compounds. In addition to ammonium salts and urea, a number of amino acids could be used as nitrogen sources. Pyruvate served as a sole source of carbon and energy in chemostat cultures, but not in batch cultures. Apparently the low residual concentrations in the steady-state chemostat cultures prevented substrate inhibition that already was observed at 150 μM pyruvate. Molar growth yields of T. acidophilus in heterotrophic chemostat cultures were low. The Y max and maintenance coefficient of T. acidophilus grown under glucose limitation were 69 g biomass · mol−1 and 0.10 mmol · g−1 · h−1, respectively. Neither the Y max nor the maintenance coefficient of glucose-limited chemostat cultures changed when the culture pH was increased from 3.0 to 4.3. This indicates that in T. acidophilus the maintenance of a large pH gradient is not a major energy-requiring process. Significant activities of ribulose-1,5-bisphosphate carboxylase were retained during heterotrophic growth on a variety of carbon sources, even under conditions of substrate excess. Also thiosulphate- and tetrathionate-oxidising activities were expressed under heterotrophic growth conditions.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00249011
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  • 4
    Electronic Resource
    Electronic Resource
    Genetics of urinary pepsinogen: A new hypothesis (1984)
    Springer
    Human genetics 〈Berlin〉 65 (1984), S. 385-390 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A new genetic model is proposed to explain the inheritance of the urinary pepsinogen (PG1) polymorphism. Each main fraction, 3, 4 and 5, in the multibanded electrophoretic pattern, is determined by its own specific gene, B, C and D respectively. The intensity ratio of the fractions is principally determined by the number of gene copies. Accordingly, the PG1 phenotypes are determined by gene combinations, haplotypes, some of which may be identical to alleles in previous one locus models. Some critical families, not interpretable using previous genetic models, are presented to support the hypothesis. Preliminary population data from the Netherlands are described. The molecular background of this polymorphism and its relevance for gastric (pre)malignancy is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291564
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  • 5
    Electronic Resource
    Electronic Resource
    Sialic acid in erythrocytes of patients with amaurotic idiocy and Huntington's chorea (1972)
    Springer
    Human genetics 〈Berlin〉 17 (1972), S. 65-68 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Der Gehalt der Erythrocyten an gesamter N-Acetyl-Neuraminsäure und an Lipid-extrahierbarer N-Acetyl-Neuraminsäure wurde bestimmt bei 14 Normalpersonen sowie 8 Eltern und einem Geschwister von Patienten, die an der spätinfantilen oder juvenilen Form der amaurotischen Idiotie litten — bei einem Patienten im terminalen Stadium der Krankheit und bei zwei Patienten mit Chorea Huntington. Im Gegensatz zu einem früheren Bericht fand sich keine Erhöhung der Lipid-N-Acetyl-Neuraminsäure, und auch der Gesamtwert war nicht erhöht. Die Ursache dieser Diskrepanz der Ergebnisse ist noch unbekannt. Die mögliche Bedeutung von Lipid-Peroxidationsprodukten wird diskutiert.
    Notes: Summary Total erythrocyte sialic acid and lipid-extractable sialic acid were estimated in material obtained from 14 normal subjects, and from 8 parents and 1 sibling of patients suffering from late infantile or juvenile forms of amaurotic idiocy, from 1 patient in the terminal phase of the disease and 2 patients with Huntington's chorea. In contrast to a previous report no increase in lipid-sialic acid was found, nor were the total sialic acid values in the “pathological” material raised. The cause of these different results is still obscure. The possible role of lipid-peroxidation products is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01789602
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  • 6
    Electronic Resource
    Electronic Resource
    Family and population studies on the human pepsinogen A multigene family (1989)
    Springer
    Human genetics 〈Berlin〉 82 (1989), S. 142-146 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Human pepsinogen A (PGA) displays highly polymorphic isozymogen patterns after polyacrylamide gel electrophoresis and activity staining. The patterns differ with respect to the presence and the relative intensity of the individual fractions. Family studies strongly suggest that these isozymogen patterns are encoded by allelic haplotypes, encompassing different numbers and types of PGA genes. In this paper, we confirm the essential features of this multigene model. We establish the relationship between the haplotypes and the corresponding isozymogen patterns by determination of the PGA polymorphism at both the DNA and the protein level in 117 Dutch individuals, 60 of whom were unrelated. The combination of HindIII and EcoRI restriction fragment length polymorphisms (RFLPs) has enabled us to define different haplotypes, which are shown to segregate within families. Most genes are characterized by their specific EcoRI fragments. The HindIII RFLP is in strong linkage disequilibrium with PGA genes showing strong expression of the relevant isozymogen. Although a general picture of the relationship between genotypes and phenotypes is emerging, there are exceptions, suggesting that rare haplotypes evolve by unique crossover events.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00284047
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  • 7
    Electronic Resource
    Electronic Resource
    Leukocyte peroxidase in Spielmeyer-Vogt's disease (1976)
    Springer
    Human genetics 〈Berlin〉 34 (1976), S. 73-76 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Leukocyte peroxidase activity was estimated in 5 patients with the juvenile form of neuronal ceroid lipofuscinosis (Spielmeyer-Vogt's disease) and in 15 healthy controls. In contradiction to recent reports normal activity of p-phenylene diamine mediated peroxidase was found in the patients. The possible role of contamination of the white cell preparation with hemoglobin is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00284439
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  • 8
    Electronic Resource
    Electronic Resource
    Erythrocyte-membrane proteins in Spielmeyer-vogt's disease and Huntington's Chorea (1974)
    Springer
    Human genetics 〈Berlin〉 24 (1974), S. 145-149 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Bei 5 Patienten, die an Spielmeyer-Vogtscher Krankheit litten, 2 Patienten mit Huntington's Chorea und 2 neurologischen Kontrollen für jede der beiden Krankheiten wurde am Blut proteolytischer Digestion von intakten Erythrocyten und isolierten Membranen mit nachfolgender Polyacrylamide-Elektrophorese durchgeführt. Besondere Aufmerksamkeit wurde dem Haupt-Sialoglykoprotein geschenkt wegen widersprechenden Resultaten in der Literatur über Lipid-extrahierbare Sialinsäure. Deshalb wurde N-acetyl-Neuraminsäure im Digestionsüberstand bestimmt. Die Ergebnisse zeigen keine Unterschiede zwischen Patienten, Gesunden und neurologischen Kontrollen. Es wird gefolgert, daß Neuraminsäure mit diesen sehr verschiedenen Krankheiten nichts zu tun hat.
    Notes: Summary Proteolytic digestion of intact erythrocytes and isolated membranes followed by polyacrylamide electrophoresis in S.D.S. was performed on blood from 5 patients with Spielmeyer-Vogt's disease, 2 patients with Huntington's Chorea, and 2 neurological controls for each of the two diseases. Special attention was paid to the major sialo-glycoprotein because of conflicting results in the literature on lipid-extractable sialic acid in the conditions mentioned. Therefore sialic acid was determined in the digest supernatant. The results show no differences between patients, normals, and neurological controls. It is concluded that there is no valid reason to assume that sialic acid is involved in these very different diseases.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00283772
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  • 9
    Electronic Resource
    Electronic Resource
    Lipid-peroxidation in Spielmeyer-Vogt's disease (1973)
    Springer
    Human genetics 〈Berlin〉 19 (1973), S. 315-319 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Die Zusammensetzung von Fettsäuren in Erythrocyten und ihre Empfindlichkeit für H2O2 wurde bestimmt bei 10 Normalpersonen sowie 5 Patienten, die an der juvenilen Form der amaurotischen Idiotie oder Spielmeyer-Vogtscher Krankheit litten. Im Blutserum von 20 Normalpersonen, 5 Patienten und 5 neurologischen Kontrollen wurde die Zusammensetzung der Fettsäuren, die totalen mehrfachungesättigten Fettsäuren, die totalen veresterten Fettsäuren und die Serumlipoxyde bestimmt. In den Erythrocyten-Fettsäuren und ihrer Empfindlichkeit für Peroxidation wurde kein Unterschied zwischen Patienten und Normalpersonen festgestellt. Die neurologischen Kontrollen und die Patienten zeigten niedrigere Serum-Linolsäure-Werte als bei Normalpersonen und größere Unterschiede in den Fettsäuren mit längeren Ketten. Bei den Patienten wurde eine negative Korrelation zwischen den Linolsäurewerten und der klinischen Krankheitsphase beobachtet. Die Resultate wurden mit Bezug auf frühere Studien diskutiert.
    Notes: Summary The composition of fatty acids in erythrocytes and their sensitivity to H2O2 were estimated in 10 normals and in 5 patients suffering from juvenile amaurotic idiocy or Spielmeyer-Vogt's disease. Serum fatty acid composition, total polyunsaturated fatty acids, total esterified fatty acids and lipid-peroxides were estimated in blood obtained from 20 normals, 5 patients, and 5 neurological controls. Erythrocyte fatty acids and their peroxidation sensitivity showed no difference between patients and normals. The neurological controls and the patients showed lower serum linoleic acid values as compared with the normals and more variation in the fatty acids of longer chain length. In the patients a negative relationship between the linoleic acid values and the clinical phase of the disease was observed. The findings are discussed with regard to previous studies.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278409
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  • 10
    Electronic Resource
    Electronic Resource
    Genetic variation in parotid basic proteins (Pb) in the Bozo (Mali, West Africa) (1979)
    Springer
    Human genetics 〈Berlin〉 49 (1979), S. 355-359 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The frequency of variants in the Pb system was studied in 71 individuals from the Bozo tribe in the Bani-Niger area (Mali, West Africa), in 25 male students from different African countries, and in 110 Dutch students. The frequency of thePb 2allele was 0.20 in the Bozo and 0.00 in the Dutch population. A comparison is made with the results of a study among American blacks and with a Japanese study. The Pb2-2 phenotypes observed in this study favour the hypothesis that the Pb-2c protein is derived from a larger precursor in a manner analogous to the generation of the Pb-1b protein from Pb-1 proteine.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00569356
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