Instability of the human immunoglobulin heavy chain constant region locus indicated by different inherited chromosomal deletions

Mol Biol Med. 1983 Sep;1(2):207-17.

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, 13-15*
  • Dysgammaglobulinemia / genetics
  • Female
  • Humans
  • Immunoglobulin Allotypes / genetics
  • Immunoglobulin Constant Regions / genetics*
  • Immunoglobulin Heavy Chains / genetics*
  • Immunoglobulins / genetics*
  • Male
  • Nucleic Acid Hybridization
  • Pedigree
  • Tunisia

Substances

  • Immunoglobulin Allotypes
  • Immunoglobulin Constant Regions
  • Immunoglobulin Heavy Chains
  • Immunoglobulins