Identification of six new RHCE variant alleles in individuals of diverse racial origin

• DOI: 10.1111/trf.13357
• Publication Date: 2015-10-05T05:07:34Z
• Authors: Mindy Goldman; Arantxa Cemborain; Jacqueline Cote; Rachid El Hamss; Robert L. Flower; Adirane Garaizar; Felix Garcia‐Sanchez; Catherine A. Hyland; Monica Kalvelage; Donatella Londero; Genghis H. Lopez; Nicoletta Revelli; Pablo Rodriguez‐W...; Antonietta Villa; Gorka Ochoa‐Garay
• Keywords: Genetic Markers; Polymorphism, Genetic; Rh-Hr Blood-Group System; Genotype; Genotyping Techniques; Black People; Blood Donors; Sequence Analysis, DNA; White People; 3. Good health; 03 medical and health sciences; Phenotype; 0302 clinical medicine; Humans; Alleles

BACKGROUND The introduction of molecular methods into routine blood typing is prompting the identification new group alleles. Discrepancies between results genotyping and serology or chance events uncovered during prompted additional investigations, which revealed six RHCE variant STUDY DESIGN AND METHODS Samples from eight donors, two patients (one prenatal), a patient's relative, all diverse racial origin, were analyzed by standard methods, targeted arrays, DNA sequencing, allele‐specific polymerase chain reaction. RESULTS Six alleles identified, namely, RHCE*cE84A, RHCE*ce202G, RHCE*ce307T, RHCE*Ce377G, RHCE*ce697G,712G,733G,744C, RHCE*Ce733G . CONCLUSION While implementation assays in commercial platforms to detect polymorphisms reported here may not be justified given their apparent rarity, software interpretative algorithms benefit for more accurate determination genotypes prediction phenotypes.