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

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-Wilhelmi, Maria Antonietta Villa, Gorka Ochoa-Garay

Research output: Contribution to journalArticlepeer-review


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, RHCEce307T, RHCE Ce377G, RHCEce697G,712G,733G,744C, and RHCECe733G. 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.

Original languageEnglish
Pages (from-to)244-248
Number of pages5
Issue number1
Publication statusPublished - Jan 1 2016

ASJC Scopus subject areas

  • Hematology
  • Immunology
  • Immunology and Allergy


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