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Identification of six new RHCE variant alleles in individuals of diverse racial origin
Author(s) -
Goldman Mindy,
Cemborain Arantxa,
Cote Jacqueline,
El Hamss Rachid,
Flower Robert L.,
Garaizar Adirane,
GarciaSanchez Felix,
Hyland Catherine A.,
Kalvelage Monica,
Londero Donatella,
Lopez Genghis H.,
Revelli Nicoletta,
RodriguezWilhelmi Pablo,
Villa Antonietta,
OchoaGaray Gorka
Publication year - 2016
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.13357
Subject(s) - genotyping , allele , genetics , biology , typing , genotype , polymerase chain reaction , gene
BACKGROUND The introduction of molecular methods into routine blood typing is prompting the identification of new blood group alleles. Discrepancies between the results of genotyping and serology or chance events uncovered during genotyping prompted additional investigations, which revealed six new RHCE variant alleles. STUDY DESIGN AND METHODS Samples from eight blood donors, two patients (one prenatal), and a patient's relative, all of diverse racial origin, were analyzed by standard serology methods, targeted genotyping arrays, DNA sequencing, and allele‐specific polymerase chain reaction. RESULTS Six new RHCE alleles were identified, namely, RHCE*cE84A, RHCE*ce202G, RHCE*ce307T, RHCE*Ce377G, RHCE*ce697G,712G,733G,744C, and RHCE*Ce733G . CONCLUSION While implementation of new assays in commercial genotyping platforms to detect the polymorphisms reported here may not be justified given their apparent rarity, software interpretative algorithms may benefit from the identification of new alleles for a more accurate determination of genotypes and prediction of phenotypes.