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New RHCE variant alleles encoding the D – – phenotype
Author(s) -
OchoaGaray Gorka,
Moulds Joann M.,
Cote Jacqueline,
Kresie Lesley,
Garaizar Adirane,
Goldman Mindy,
Wynn Polly
Publication year - 2013
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1111/trf.12404
Subject(s) - genotyping , allele , phenotype , genetics , biology , null allele , genomic dna , genotype , exon , microbiology and biotechnology , gene
Background Variant alleles that do not produce RhCE antigens are rare. Consequently, they pose a challenge to transfusion when found in alloimmunized patients and make blood units valuable when found in donors. Study Design and Methods Five index cases and their relatives were studied by both serologic and molecular techniques. Genomic DNA was subjected to microarray genotyping, sequencing, exon scanning, and/or copy number determination assays to identify the RHCE allele(s) responsible for their D+ C− c− E– e− (D– –) phenotype. Results The five apparent D– – phenotypes were confirmed by molecular methods. Three of them contained unreported RHCE ‐null alleles, namely, RHCE * Ce ‐ D (3‐9)‐ Ce , RHCE*Ce87_93insT , and RHCE * cE 221 A .Conclusion Molecular analysis of D– – phenotypes allows the identification of new RHCE ‐null variants. Conversely, detection of described RHCE ‐null variants facilitates confirmation of D– – phenotypes in patients and donors, helping improve transfusion safety.