Characterization of the recombination hot spot involved in the genomic rearrangement leading to the hybrid D-CE-D gene in the D(VI) phenotype

Am J Hum Genet. 1997 Apr;60(4):808-17.


In the Caucasian population, the RH locus of RhD-positive individuals is composed of two homologous genes, RHD and RHCE, arranged in tandem but of a single gene, RHCE, in RhD-negative individuals. Many variants recently characterized carry rearranged RH genes, most often by an unidirectional segmental DNA-exchange (gene-conversion) event. In D(VI) variants of type II, RHD is a D-CE-D hybrid gene in which the DNA fragment carrying exons 4-6 has been replaced by the corresponding sequences from the RHCE gene. To identify precisely and characterize the two transition sites, we have studied, by both PCR and sequence analysis, a genomic region between the 3' end of intron 3 and exon 7 in normal RHCE and RHD genes as well as in D(VI) DNA. We show that the D-CE breakpoint is located in intron 3, within a 250-bp fragment comprising an Alu S sequence, and that the CE-D breakpoint lies within a 39-bp fragment in intron 6. This Alu S sequence (and the 100-bp region immediately downstream) most likely defines a recombination hot spot, since there lies also the 5' breakpoint of different rearrangement events leading to D-CE and CE-D transitions in hybrid D(VI),DFR and Dc-,R(N) gene complexes, respectively.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Exons / genetics
  • Gene Rearrangement*
  • Genetic Variation
  • Genome, Human
  • Humans
  • Introns / genetics
  • Molecular Sequence Data
  • Phenotype
  • Polymerase Chain Reaction
  • Recombination, Genetic*
  • Restriction Mapping
  • Rh-Hr Blood-Group System / genetics*
  • Sequence Analysis, DNA
  • Sequence Homology, Nucleic Acid


  • Rh-Hr Blood-Group System

Associated data

  • GENBANK/U77078
  • GENBANK/U77079
  • GENBANK/U77080
  • GENBANK/U77081
  • GENBANK/U83205
  • GENBANK/U83206
  • GENBANK/U83207
  • GENBANK/Z97030
  • GENBANK/Z97031
  • GENBANK/Z97333