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  • 1
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Fukosidose ; α-L-Fukosidase ; Lysosomale Speichererkrankung ; Mutationen ; Molekulargenetik ; Key words Fucosidosis ; α-L-fucosidase ; Lysosomal storage disease ; Mutations ; Molecular genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Fucosidosis, a rare lysosomal storage disease due to nearly complete deficiency of α-L- fucosidase, was diagnosed in two unrelated male German patients who exhibited typical symptoms of this disorder including mental retardation, dysostosis multiplex, vacuolization of lymphocytes and progressive neurologic deterioration by the age of 3.2 and 4 years, respectively. In both cases, activity of α-L-fucosidase in leukocytes and cultivated fibroblasts was negligible. DNA analysis revealed a nonsense mutation (G401X) in exon 7 of the fucosidase gene; this leads to a premature stop codon and C-terminal deletion of 61 amino acids from the protein. Discussion: On account of the mutation a unique PFlMI restriction site is obliterated; this simplifies molecular diagnosis of the G401X mutation. So far, the mutation G401X has not been found in any other population.
    Notes: Zusammenfassung Die Fukosidose ist eine seltene lysosomale Speicherkrankheit, die durch eine starke Verminderung der Enzymaktivität der α-L-Fukosidase verursacht wird. Wir beschreiben 2 nicht verwandte, deutsche, männliche Patienten mit typischen Symptomen. Beide zeigten bis zum Alter von 3,2 bzw. 4 Jahren einen progredienten neurologischen Abbau, eine schwere mentale Retardierung, Zeichen einer Dysostosis multiplex und Speicherphänomene in Lymphozyten. Die α-L-Fukosi- dase-Aktivität in Leukozyten und Fibroblasten war stark vermindert (〈3% des Normalwertes). Die molekulargenetische Diagnostik deckte eine Nonsense-Mutation (G401X) in Exon 7 des α-L-Fukosidase-Gens auf, die zu einem vorzeitigen Stopkodon und so zum C-terminalen Verlust von 61 Aminosäuren des Enzymproteins führt. Diskussion: Durch die Mutation geht eine Spaltstelle des Restriktionsenzyms PflMI verloren, so daß ein rascher Nachweis mit Hilfe dieses Polymorphismus möglich ist. Bisher wurde die Mutation G401X in keiner anderen Population nachgewiesen.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1439-0426
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Agriculture, Forestry, Horticulture, Fishery, Domestic Science, Nutrition
    Notes: The monthly variation in reproductive cycle, condition factor (fatness), gonad index (GI), ovarian egg diameter and biochemical composition [RNA, DNA content and their ratio RNA/DNA (R/D)] were compared to determine the spawning season of the purplish Washington clam, Saxidomus purpuratus, collected from the west sea of Taean, Korea. All these factors were correlated to the spawning season from May to October. Monthly variation and concentration of the R/D ratio especially represented indicative information about the processes of gonad development and spawning patterns. The increases in R/D ratio in the ovaries corresponded with increases in ovarian egg diameters and the GI during the spawning season. The peak of R/D and RNA content in females was a good indicator of sexual maturation and the DNA content in males. During winter between November and January, the value of fatness, GI, egg size, RNA and DNA content were lower than in other seasons, indicating depletion of energy reserves and lower metabolic demands because of colder temperatures.
    Type of Medium: Electronic Resource
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