Evidence for "deleted" or "silent" genes homozygous at the locus coding for the constant region of the gamma3 chain

Am J Hum Genet. 1976 Jan;28(1):51-61.

Abstract

Three uncommon stable Gm haplotypes, Gm3;23;--, Gm1,2,17;..;-- and Gm1,17;..;-- have been transmitted through 3 generations of two related Lebanese and Syrian families. No pathological consequence was noted in seven individuals, aged 14--65, whose sera were deficient for all the allotypes carried by the IgG3 chains. Among the different genetic events which could have produced these haplotypes (alteration of a regulatory gene, point mutation, gene hybridization, gene deletion), it appears that a structural deletion is the most probable explanation. The observed data can be explained by either a partial or a total deletion of the constant portion of the IgG3 heavy chain.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Antigens
  • Chromosome Mapping*
  • Female
  • Genes*
  • Genotype
  • Humans
  • Immunoglobulin Allotypes*
  • Immunoglobulin G*
  • Lebanon / ethnology
  • Male
  • Middle Aged
  • Models, Biological
  • Pedigree
  • Phenotype
  • Syria / ethnology

Substances

  • Antigens
  • Immunoglobulin Allotypes
  • Immunoglobulin G