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Sökning: WFRF:(Mollicone R)

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1.
  • Fernandez-Mateos, P, et al. (författare)
  • Point mutations and deletion responsible for the Bombay H null and the Reunion H weak blood groups.
  • 1998
  • Ingår i: Vox sanguinis. - 0042-9007. ; 75:1, s. 37-46
  • Tidskriftsartikel (refereegranskat)abstract
    • OBJECTIVE: Definition of the molecular basis of the Reunion and the Bombay red cell and salivary H-deficient phenotypes. METHODS: Sequence and expression of FUT1 and FUT2 genes from H-deficient individuals. Family segregation analysis of the mutations responsible for the fucosyltransferase defects of H, secretor and Lewis systems. RESULTS: The Indian red cell H null Bombay phenotype depends on a new mutation of the FUT1 gene. T725-->G changing Leu242-->Arg. Their salivary nonsecretor phenotype is secondary to a complete deletion of the FUT2 gene. The red cell H weak Reunion phenotype depends on another new mutation of FUT1, C349-->T which induces a change of His117-->Tyr. Their salivary nonsecretor phenotype is due to the known Caucasian inactivating mutation G428-->A. CONCLUSION: Single prevalent FUT1 and FUT2 point mutations and a deletion are responsible for the Indian Bombay H null and the Reunion H weak phenotypes found on Reunion island. This is in contrast with other H-deficient phenotypes where sporadic nonprevalent inactivating mutations are the rule.
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2.
  • Gane, P, et al. (författare)
  • Heterogeneity of anti-A and anti-B monoclonal reagents. Agglutination of some weak ABH erythrocyte variants and recognition of synthetic oligosaccharide and tissue antigens.
  • 1987
  • Ingår i: Vox sanguinis. - 0042-9007. ; 53:2, s. 117-25
  • Tidskriftsartikel (refereegranskat)abstract
    • Eight anti-A and seven anti-B monoclonal reagents were tested in parallel, with normal and weak ABH red cell phenotypes. A whole range of different reactivity patterns was found, but by making a comparison with the results obtained using polyclonal standard reagents, two major categories of reagents were distinguished: (a) stronger and more specific reagents, and (b) reagents similar to, or weaker than, the standard polyclonal controls. The analysis of the specificity of the reagents by tissue fluorescence staining and reactivity with synthetic oligosaccharides and purified glycolipids confirmed the existence of broad and restricted specificities. Two kinds of anti-A1 reagents are described. One related to type 3/4 structures, which stains the Golgi apparatus, and another with broad anti-A specificity which cross-reacts with 'A-like' structures. The inhibition of anti-A reagents with salivas and synthetic oligosaccharide antigens gave parallel results for the secretor salivas and the difucosylated A antigens.
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