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Download Advances in Human Genetics 10 by Winifred M. Watkins (auth.), Harry Harris, Kurt Hirschhorn PDF

By Winifred M. Watkins (auth.), Harry Harris, Kurt Hirschhorn (eds.)

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Relationship between the A, B, and H Determinant Structures and the Blood Group Genes Toward the end of the 1950s, although knowledge of the detailed structure of the determinants was still fragmentary, sufficient genetic, serological, and biochemical information was available for profitable speculation on the relationship between the blood group genes and the serologically active structures (Watkins and Morgan, 1959; Watkins, 1959; Ceppellini, 1959). The molecular theory of inheritance had at that time recently highlighted the fact that the DNA of the structural gene loci coded for the primary amino acid sequence of the polypeptide chains of specific proteins (see Brenner, 1959).

A-Fuc(l-+2)1 I3-Gal(I-+4)I3-GlcNAc(I-+3)I3-Gal(I-+4)I3-GlcNAc(I-+3)I3-Gal(I-+4)GIc-ceramide a-GalNAC(I-+3)'\. B-active structures AC Ab A-active structures (1975) Hanfland et at. (1972) Hakomori at. (1972) Hakomori et -..... ~ (') .. C N ... III 3 CD III '< en - 'a 0 Q. " III Q. :::I DI Fi CD ~ r- 5' III ~ 'a CD DI 22 Winifred M. Watkins characterized but there is no reason to believe that they do not occur on red cell membranes of group B individuals. Evidence for the presence in human erythrocyte membranes of high molecular weight glycolipids with carbohydrate moieties of a size and degree of complexity hitherto unknown in glycosphingolipids was first presented by Gardas and Koscielak (\974a).

1976). The failure of the agalactosyltransferase in human serum to transform cells of the Bombay Oh phenotype was taken as support for the concept that H-active structures are the acceptors of the transferred galactosyl residues (Race and Watkins, 1972a). The activity of the B transferase can be assessed by titration of the converted cells against serial dilutions of anti-B serum. Distribution of the a-3-D-Galactosyltransferase in Different Tissues. , 1972). In contrast to the H-gene-specified fucosyltransferase the B-genespecified enzyme is found in submaxillary gland tissue, saliva, and milk from both secretors and nonsecretors; thus support is given for the hypothesis that failure to secrete B substance arises from the absence of the requisite H-acceptor substance and not from failure of expression of the B gene.

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