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Molecular background of D(C)(e) haplotypes within the white population.

France Noizat-Pirenne1, Pierre-Yves Le Pennec, Isabelle Mouro

  • 1Blood Group National Reference Center, Paris, France. pirenne@ints.fr

Transfusion
|June 27, 2002
PubMed
Summary
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Two novel mutations in the RHCe gene were identified in white individuals with altered C and e antigen expression. These genetic changes lead to specific amino acid substitutions, impacting Rh antigen reactivity and aiding in variant identification.

Area of Science:

  • Genetics
  • Immunology
  • Hematology

Background:

  • D(C)(e) and D(C)e haplotypes are observed in the white population.
  • Limited data exist on the molecular basis of reduced C and e antigen expression.

Purpose of the Study:

  • To investigate the molecular mechanisms underlying depressed C and e antigen expression in individuals of white origin.
  • To characterize novel Rh (RH) system variants.

Main Methods:

  • Subdivision of individuals based on RBC reactivity with Mol and Hor sera.
  • Serologic testing for low-frequency antigens (V, VS, Rh32).
  • Molecular analysis including gene sequencing and identification of hybrid gene structures and point mutations.

Main Results:

Related Experiment Videos

  • Two distinct molecular backgrounds were identified: a hybrid RHCe-D(5)-Ce gene (RHCeVA allele) and a novel RHCe allele with a C340T mutation (RHCeMA allele).
  • RHCeVA allele involves exon 5 replacement, leading to amino acid alterations in external loop 4.
  • RHCeMA allele involves a point mutation in exon 3, causing an R114W substitution in external loop 2.

Conclusions:

  • Amino acid substitutions in external loops 4 and 2 alter C and e antigen reactivity, suggesting conformational changes or altered loop interactions.
  • Combined serologic testing with Mol/Hor sera and specific C/e monoclonal antibodies aids in identifying these Rh variants in the white population.