E van Loghem

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Previously we reported a gross genetic polymorphism of the human immunoglobulin heavy chain locus manifest by a large internal deletion within the constant region gene segment. We now describe a detailed serological and molecular genetic study of a Tunisian family in which members appear to carry two chromosomes 14 with different DNA deletions. The first is(More)
In a unique sibship of 5, 2 siblings were found to have dystrophia myotonica and 3 had myotonia congenita. A study was made of the paternal and maternal families and of the offspring of the 5 siblings. Eighty relatives were examined clinically, by slit-lamp and by electromyography. In the relatives of the mother of the sibship only dystrophia myotonica was(More)
In this study linkage between the loci for Gm (gamma-type heavy-chain immunoglobulin markers) and Pi (alpha 1-antitrypsin/alpha 1-protease inhibitor) has been shown in families segregating for the Pi M subtypes (M1, M2, M3 and Msal) as identified by separator isoelectric focusing . The estimate for the Gm--Pi (M type) recombination is 0.29 (95% limits(More)
The constant region of the gamma 1, gamma 2 and gamma 3 heavy chains of the human IgG1, IgG2 and IgG3 immunoglobulins carries antigenic determinants or G1m, G2m and G3m allotypes, which are genetic markers of these subclasses. The exceptional presence on gamma 1 and gamma 2 chains of Gm allotypes usually located on the CH3 domain of gamma 3 shows an(More)
Staphylococcal protein A binds molecules belonging to the IgG1, IgG2, and IgG4 subclasses. IgG3 proteins generally do not bind, except for those coded by the two gamma 3 alleles, which are G3m(u-): G3m(b0,b3,b5,s,v). G3m(u) is located in the CH2 domain. The difference between G3m(u-) and G3m(u+) IgG3 proteins correlates with the sequence at position 339 in(More)
IgG and IgA heavy chain allotypes were determined in the sera of 483 Caucasian Type 1 diabetes patients and 503 Caucasian healthy controls. There was no significant difference between patients and controls neither on the level of Gm phenotype frequencies nor on the level of Gm three-locus and two-locus haplotype frequencies. A selective IgA deficiency was(More)