LEU110PRO SUBSTITUTION IN THE RHD POLYPEPTIDE IS RESPONSIBLE FOR THE D-VII CATEGORY BLOOD-GROUP PHENOTYPE

The nucleotide sequence of the RhD transcripts from the reticulocytes of three unrelated variants with the D-VII category blood group phenot ype has been determined. our results indicate that the expression of t he low frequency antigen Rh40 and the lack of epD8 at the surface of t hese variant RhD positive red cells ate associated with a single point mutation, T329C, in exon 2 of the RHD gene. This nucleotide polymorph ism results in a leucine to proline substitution at amino acid positio n 110 of the RhD polypeptide. (C) 1995 Wiley-Liss, Inc.