title: Polymorphisms of RhD(Va) and a new RhD(Va)-like variant found in Japanese individuals.
abstract: OBJECTIVE
  Red cell type RhD(Va) lacks epD1 and 5 and is encoded by hybrid RHD-CE(5)-D alleles. We analyzed RhD(Va) and RhD(Va)-like samples in Japanese blood donors.
  
  
  METHODS
  Ten RhD(Va) samples lacked epD1 and 5 and 3 RhD(Va)-like variants also lacked, epD2 and a part of 6/7. We identified the full-length nucleotide sequences of the complementary DNA (cDNA) synthesized from 4 samples: 3 of type D(Va) and the 4th a D(Va)-like variant.
  
  
  RESULTS
  Although their sequences differed from each other, all the substitutions were exclusively in exon 5. Three D(Va) samples had hybrid RHD-CE(5)-D alleles, but the D(Va)-like variant had a unique nucleotide substitution with a single amino acid change, E233K. Exon 5 of the genomic DNA from all 13 samples was analyzed by sequencing. No other sequences were identified.
  
  
  CONCLUSIONS
  All RhD(Va) and RhD(Va)-like variants had the substitution for E233. E233 seems to be a determinant of epD1 and 5. A new category of RhD variant, DYO, was identified.
authors.affiliation: Japanese Red Cross Central Blood Center, Tokyo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Hyodo
authors.forename: Y
authors.initials: Y
authors.lastname: Ishikawa
authors.forename: K
authors.initials: K
authors.lastname: Kashiwase
authors.forename: A
authors.initials: A
authors.lastname: Ogawa
authors.forename: Y
authors.initials: Y
authors.lastname: Watanabe
authors.forename: H
authors.initials: H
authors.lastname: Tsuneyama
authors.forename: C
authors.initials: C
authors.lastname: Toyoda
authors.forename: M
authors.initials: M
authors.lastname: Uchikawa
authors.forename: T
authors.initials: T
authors.lastname: Akaza
authors.forename: T
authors.initials: T
authors.lastname: Fujii
authors.forename: S
authors.initials: S
authors.lastname: Kozuma
authors.forename: Y
authors.initials: Y
authors.lastname: Taketani
authors.forename: T
authors.initials: T
authors.lastname: Juji
mesh_terms: D019943:Amino Acid Substitution; D004252:DNA Mutational Analysis; D018076:DNA, Complementary; D005091:Exons; D014644:Genetic Variation; D006801:Humans; D007564:Japan; D015514:Oncogene Proteins, Fusion / Q000097:blood / Q000235:genetics*; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011993:Recombinant Fusion Proteins; D012204:Rh-Hr Blood-Group System / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D018076:DNA, Complementary; D015514:Oncogene Proteins, Fusion; D011993:Recombinant Fusion Proteins; D012204:Rh-Hr Blood-Group System; C117760:RhD fusion protein, human; C026410:Rho(D) antigen