Lack of RH C/E expression in the Rhesus D--phenotype is the result of a gene deletion

Ann Hum Genet. 1994 Jan;58(1):19-24. doi: 10.1111/j.1469-1809.1994.tb00722.x.

Abstract

We have investigated the arrangement of genes in the rare Rh (Rhesus) partial null condition D--. Southern blot and PCR studies under conditions which distinguish the highly homologous RH D and RH C/E genes show that in an Icelandic family with the D-- haplotype at least 85% of the RH C/E gene is deleted. This finding is in contrast to one other published case of this phenotype, where intact RH D and C/E genes were found, and also to the full amorph Rhnull phenotype, where an intact RH C/E gene was found, accompanied by the deletion of the RH D gene typical of Rh D-negative individuals.

MeSH terms

  • Base Sequence
  • Exons
  • Gene Deletion*
  • Heterozygote
  • Homozygote
  • Humans
  • Iceland
  • Introns
  • Molecular Sequence Data
  • Phenotype
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Rh-Hr Blood-Group System / genetics*

Substances

  • Rh-Hr Blood-Group System
  • Rho(D) antigen