title: Instability of the human immunoglobulin heavy chain constant region locus indicated by different inherited chromosomal deletions.
abstract: 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 similar to that previously described encompassing three gamma subclass genes, a pseudo-epsilon gene and the alpha 1 subclass gene; the second deletion is less complex involving only the pseudo-epsilon gene and the alpha 1 gene.
mesh_terms: D002872:Chromosome Deletion; D002901:Chromosomes, Human, 13-15; D004406:Dysgammaglobulinemia / Q000235:genetics; D005260:Female; D006801:Humans; D007126:Immunoglobulin Allotypes / Q000235:genetics; D007127:Immunoglobulin Constant Regions / Q000235:genetics*; D007143:Immunoglobulin Heavy Chains / Q000235:genetics*; D007136:Immunoglobulins / Q000235:genetics*; D008297:Male; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D014416:Tunisia
chemical_list: D007126:Immunoglobulin Allotypes; D007127:Immunoglobulin Constant Regions; D007143:Immunoglobulin Heavy Chains; D007136:Immunoglobulins