A 3.5 kb deletion in the glycophorin C gene accounts for the Gerbich-negative blood group in Melanesians

Immunol Cell Biol. 1994 Feb;72(1):23-7. doi: 10.1038/icb.1994.4.

Abstract

The Gerbich-negative blood group types are rare in most populations, but reach appreciable frequencies in certain Melanesian groups in Papua New Guinea. The recent cloning of the human glycophorin C (GPC) gene, that encodes Gerbich (Ge) blood group antigens, has facilitated study of its genetic variants. We have obtained partial genomic clones of a normal GPC gene, for molecular analysis of Ge: -1, -2, -3 types in Melanesians, and have shown that a 3.5 kb deletion in the GPC gene that removes all of exon 3 accounts for at least one Gerbich-negative phenotype in Melanesians. Population distributions of GPC RFLP have shown that the deletion-type GPC is not confined to mainland Papua New Guinea as previously thought, but occurs sporadically in Melanesians from Fiji as well as in Micronesians.

MeSH terms

  • Anion Exchange Protein 1, Erythrocyte / genetics
  • Blood Group Antigens / genetics*
  • Blotting, Southern
  • DNA / genetics
  • Elliptocytosis, Hereditary / genetics
  • Erythrocytes / chemistry
  • Female
  • Gene Deletion*
  • Genotype
  • Glycophorins / genetics*
  • Humans
  • Male
  • Melanesia
  • Molecular Weight
  • Pedigree
  • Phenotype
  • Polymerase Chain Reaction

Substances

  • Anion Exchange Protein 1, Erythrocyte
  • Blood Group Antigens
  • Glycophorins
  • DNA