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Leu110Pro substitution in the RhD polypeptide is responsible for the D VII category blood group phenotype
Author(s) -
Rouillac Christelle,
Le Van Kim Caroline,
Beolet Marylise,
Cartron JeanPierre,
Colin Yves
Publication year - 1995
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830490115
Subject(s) - amino acid substitution , exon , phenotype , microbiology and biotechnology , point mutation , biology , genetics , nucleotide , gene , amino acid , polymorphism (computer science) , substitution (logic) , mutation , genotype , computer science , programming language
Abstract The nucleotide sequence of the RhD transcripts from the reticulocytes of three unrelated variants with the D VII category blood group phenotype has been determined. Our results indicate that the expression of the low frequency antigen Rh40 and the lack of epD8 at the surface of these variant RhD positive red cells are associated with a single point mutation, T329C, in exon 2 of the RHD gene. This nucleotide polymorphism results in a leucine to proline substitution at amino acid position 110 of the RhD polypeptide. © 1995 Wiley‐Liss, Inc.