RhD variant caused by an in-frame triplet duplication in the RHD gene.
Transfusion
; 51(3): 570-3, 2011 Mar.
Article
em En
| MEDLINE
| ID: mdl-20738827
ABSTRACT
BACKGROUND:
The RHD gene is highly polymorphic and a large number of D variants have already been detected. Several mechanisms are involved in the origin of D variants. In-frame deletions, resulting in a single-amino-acid deletion, have been described associated with RhD and RhCE variants. No in-frame duplications and/or insertions have been reported in the RH genes to date. STUDY DESIGN ANDMETHODS:
Blood samples from a Brazilian blood donor and his sister were serologically tested with routine anti-D reagents and anti-D panels (ALBAclone advanced partial D typing kit, Alba Bioscience Limited; and D-Screen, Diagast), followed by molecular biology techniques, RHD polymerase chain reaction with sequence-specific priming and sequencing.RESULTS:
Samples tested negative with routine immunoglobulin M (IgM) anti-D reagents and positive with IgG anti-D, which detect weak D cells. The pattern of results with anti-D panels did not correspond to any described before. A 3-bp in-frame duplication within Exon 1 (c.75_77dupTCT), resulting in the duplication of leucine 26 (p.Leu26dup), was identified in the two samples.CONCLUSION:
We report the first RhD variant associated with a 3-bp in-frame duplication in the RHD gene, predicted to be located within the RhD protein transmembrane domain that might be expected to result in a weak-D-like phenotype, concordant with serologic findings.
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Base de dados:
MEDLINE
Assunto principal:
Sistema do Grupo Sanguíneo Rh-Hr
/
Duplicação Gênica
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article