Partial expression of RHc on the RHD polypeptide

Transfusion. 2001 Sep;41(9):1136-42. doi: 10.1046/j.1537-2995.2001.41091136.x.


Background: In the human Rh blood group system, c is, after D, the most immunogenic antigen.

Study design and methods: The background of a new partial c phenotype (D(c)), identified on the RBCs of two unrelated white persons, was studied. This was done by analyzing the reactivity of the RBCs from the donors with anti-c reagents, by performing sequence analysis, and by carrying out transduction studies.

Results: Serologic results suggested the existence of a new partial c phenotype. Genomic DNA and cDNA analysis revealed a normal RHCe allele, a normal RHD allele, and an RHD allele that carried two point mutations: 307T>C and 329T>C (the latter known to be associated with the DVII, Tar-positive phenotype). No normal RHc allele was found. Thus, it was most likely that c is encoded by the mutated RHD allele (phenotype DD(c)CCee). Indeed, subsequent transduction of K562 erythroleukemic cells with an RHD cDNA carrying the 307T>C point mutation (leading to S103P) resulted in the expression of c.

Conclusion: In the human Rh system, P103 is involved in the expression of c. Moreover, c can be expressed in vivo on the D polypeptide.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Blood Donors*
  • DNA, Complementary / genetics
  • Epitopes
  • Erythrocytes / metabolism*
  • Gene Expression
  • Humans
  • Isoantigens / genetics*
  • Mutation
  • Peptides / genetics
  • Rh-Hr Blood-Group System / genetics*
  • Transfection
  • Tumor Cells, Cultured


  • DNA, Complementary
  • Epitopes
  • Isoantigens
  • Peptides
  • Rh-Hr Blood-Group System
  • Rho(D) antigen