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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Annals of hematology 34 (1977), S. 357-362 
    ISSN: 1432-0584
    Keywords: Su allele ; paternity ; opposite Ss alleles homozygosity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Bei einer Abstammungsbegutachtung wurde eine scheinbar entgegengesetzte Reinerbigkeit der Allele S und s im MNSs-Blutgruppensystem zwischen Mutter und Kind beobachtet. Durch die Untersuchung der Eltern der Kindesmutter sowie durch Dosisuntersuchungen konnte das seltene Allel Su postuliert werden. Die Ergebnisse in 22 weiteren erblichen Blutgruppensystemen, einschließlich der HLA-Phänotypen, standen im Einklang mit den Erbregeln. Die biostatistische Auswertung der Blutgruppenergebnisse konnte die Möglichkeit einer Illegitimität oder Kindesunterschiebung in dieser Sippe ausschließen. Unter den Vorfahren der Familie waren nur Personen kaukasischer Abstammung ausfindig zu machen. Die Bedeutung des Vorkommens von Su in der weißen Bevölkerung wird kurz diskutiert. Als zufällig wird das gleichzeitige Vorkommen der seltenen Antigene Su und GPT0 in der untersuchten Familie betrachtet.
    Notes: Summary Investigating a paternity case we observed a pretended opposite homozygosity of the S and s alleles between a mother and her child. The presence of the rare allele Su in this family could be demonstrated with the aid of dosage studies and blood group testing of the mother's parents. 22 additional genetic marker systems, including the HLA-system were examined, a biostatistical calculation was performed as well. The results obtained from these testings were in accordance with the hereditary rules and the possibility of illegitimacy or of children's substitution could be excluded. Only Caucasoid ancestry was known to the family. In addition, family members showed another rare blood group marker, the allele GPT0.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Paramyotonia congenita (PC), an autosomal dominant non-progressive muscle disorder, is characterised by cold-induced stiffness followed by muscle weakness. The weakness is caused by a dysfunction of the sodium channel in muscle fibre. Parts of the gene coding for the α-subunit of the sodium channel of the adult human skeletal muscle (SCN4A) have been localised on chromosome 17. To investigate the role of this gene in the etiology of PC, a linkage analysis in 17 well-defined families was carried out. The results (z=20.61, Θ=0.001) show that the mutant gene responsible for the disorder is indeed tightly linked to the SCN4A gene. The mutation causing hyperkalemic periodic paralysis (HyperPP) with myotonia has previously been mapped to this gene locus by the same candidate gene approach. Thus, our data suggest that PC and HyperPP are caused by allelic mutations at a single locus on chromosome 17.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1573-4927
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract Among members of the fish family Cyprinidae,a diploid—tetraploid relationship exists. The present study on electrophoretic patterns of 6-phosphogluconate dehydrogenase indicates that such diploid members as Barbus tetrazonamaintain allelic polymorphism at a single gene locus for this enzyme. Tetraploid members such as the carp and goldfish are endowed with two separate gene loci for 6-PGD. Tetraploid evolution apparently fixed two former alleles of the same locus as two separate gene loci. Furthermore, it appears that after becoming tetraploid, the carp and goldfish developed a separate regulatory mechanism for each locus; thus preferential activation of one or the other 6-PGD locus occurs in different tissues of tetraploid species.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Parasitology research 78 (1992), S. 495-500 
    ISSN: 1432-1955
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The dissociation of histone proteins a-d from the chromatin ofTrypanosoma brucei brucei procyclic culture forms was investigated by removing the proteins from the DNA by centrifugation of soluble chromatin through isokinetic sucrose gradients in the presence of NaCl. The dissociation of theT. b. brucei histones was compared with that of their higher-eukaryote counter-parts H3, H2A, H2B and H4. All four histones ofT. b. brucei remained bound to the DNA at 500mM NaCl, were partially released at 750mm NaCl and were completely dissociated from the DNA at 1m NaCl. These interactions of histones a-d with the DNA were comparable with those of the H2 histones in the chromatin of higher eukaryotes, and histones a and d interacted with the DNA more weakly than did their higher-eukaryote counterparts H3 and H4. Substoichiometric amounts of an additional protein were recovered in the top fractions of the gradients under all dissociation conditions. This protein migrated in the H1 region of rat-liver chromatin in various gel systems. Its early release from the DNA also indicated a resemblance to histone H1. The presence of only small amounts of this protein and the relatively weak interactions of histones a and d with the DNA suggest that the mechanisms involved in chromatin compaction inT. b. brucei are different from those in higher eukaryotes.
    Type of Medium: Electronic Resource
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  • 6
    Book
    Book
    Berlin [u.a.] :Springer,
    Title: Embedded systems - qualitätsorientierte Entwicklung /
    Contributer: Bender, Klaus
    Publisher: Berlin [u.a.] :Springer,
    Year of publication: 2005
    Pages: VII, 385 S.
    ISBN: 3-540-22995-7
    Type of Medium: Book
    Language: German
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