Polymorphisms of RhDVa and a new RhDVa-like variant found in Japanese individuals

Citation
H. Hyodo et al., Polymorphisms of RhDVa and a new RhDVa-like variant found in Japanese individuals, VOX SANGUIN, 78(2), 2000, pp. 122-125
Citations number
21
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Cardiovascular & Hematology Research
Journal title
VOX SANGUINIS
ISSN journal
0042-9007 → ACNP
Volume
78
Issue
2
Year of publication
2000
Pages
122 - 125
Database
ISI
SICI code
0042-9007(2000)78:2<122:PORAAN>2.0.ZU;2-5
Abstract
Background and Objectives: Red cell type RhDVa lacks epD1 and 5 and is enco ded by hybrid RHD-CE(5)-D alleles. We analyzed RhDVa and RhDVa-like samples in Japanese blood donors. Materials and Methods: Ten RhDVa samples lacked epD1 and 5 and 3 RhDVa-like variants also lacked, epD2 and a part of 6/7. W e 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 v ariant. Results: Although their sequences differed from each other, all the substitutions were exclusively in exon 5, Three D-Va samples had hybrid RH D-CE(5)-D alleles, but the D-Va-like variant had a unique nucleotide substi tution with a single amino acid change, E233K. Exon 5 of the genomic DNA fr om all 13 samples was analyzed by sequencing. No other sequences were ident ified. Conclusion: All RhDVa and RhDVa-like variants had the substitution f or E233. E233 seems to be a determinant of epD1 and 5. A new category of Rh D variant, DYO, was identified. Copyright (C) 2000 S. Karger AG. Basel.