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  • 1
    Digitale Medien
    Digitale Medien
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 8 (1981), S. 0 
    ISSN: 1744-313X
    Quelle: Blackwell Publishing Journal Backfiles 1879-2005
    Thema: Biologie , Medizin
    Notizen: Erythrocytes that exhibit the rare blood group p phenotype lack the P antigen (globotetraosylceramide) and the Pk antigen (globotriaosylceramide). This phenotype is inherited as an autosomal recessive condition and the red cells of heterozygous individuals, parents and children of p persons, are serologically normal but no chemical analyses of their red cells have been reported. We have studied an unusual family in which all five children exhibit the p phenotype. In addition to the abnormalities described previously, the erythrocytes of four siblings had twice the normal concentration of lactotriaoslyceramide and lactoneotetraosylceramide. These cells also contained 3-5 times as much sialosyllactoneotetraosylceramide and up to a two-fold increase in GM3 ganglioside. The glycolipids of the parents' erythrocytes were normal. Electrophoretic analysis of the glycoproteins of the proposita's erythrocytes revealed no abnormalities, but her erythrocyte membranes contained approximately 35% less galactosamine than normal red cells. This abnormality resulted from a marked decrease in galactosamine that was soluble in chloroformmethanol. The lipid-extracted residue, which contained the glycoproteins, had a normal galactosamine content.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    Digitale Medien
    Digitale Medien
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 5 (1978), S. 0 
    ISSN: 1744-313X
    Quelle: Blackwell Publishing Journal Backfiles 1879-2005
    Thema: Biologie , Medizin
    Notizen: The blood from three individuals belonging to consecutive generations of one family were characterized as cis AB on the basis of (a) the serological behaviour of the B antigen on their red cells, (b) the presence of weak anti-B in their sera and (c) family studies, which unequivocally demonstrated the genotype AB: O for two of the individuals with atypical AB groups.The serological behaviour of the A antigen on the red cells was intermediated between that of normal A1 and A2 cell. The B antigen gave weak and variable reactions with naturally occurring antibodies. Treatment of the cis AB red cells with an α-galactosyltransferase in the serum from an A1B individual rendered them agglutinable by the normal range of anti-B sera, demonstrating that the red cells do not lack precursors for the formation of normal B-active structures.The cis AB sera all contained relatively strong α-N-acetylgalactosaminyl-transferases which had pH optima of 6.0, characteristic of A1 gene-specified enzymes. The affinity of the enzymes for UDP-galactose, as measured by the apparent Ki, appeared to be greater than that of the A transferases in normal A1 and A1B sera. The B-gene transferases in the cis AB sera were very weak and were more readily inhibited by UDP-N-acetylgalactosamine than were the α-galactosyltransferases in normal B and AB sera. Both the A- and B-transferase activities in the cis AB sera are, therefore, in some ways different from the corresponding enzyme activities in the sera of normal A, B or AB donors.Cytogenetic study of blood lymphocytes from all three individuals showed normal karyotypes. Specifically, the terminal bands of the long arms of the No. 9 chromosomes, to which the ABO:Np-1: AK-1 linkage group has been assigned, displayed G bands similar to those in cells from other (normal) individuals examined simultaneously.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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