RESUMEN
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.
Asunto(s)
Alelos , Población Negra/genética , Donantes de Sangre , Polimorfismo Genético , Sistema del Grupo Sanguíneo Rh-Hr/genética , Población Blanca/genética , Marcadores Genéticos , Genotipo , Técnicas de Genotipaje , Humanos , Fenotipo , Análisis de Secuencia de ADNAsunto(s)
Proteínas Sanguíneas/deficiencia , Eliminación de Gen , Glicoproteínas de Membrana/deficiencia , Sistema del Grupo Sanguíneo Rh-Hr/genética , Anciano , Tipificación y Pruebas Cruzadas Sanguíneas , Proteínas Sanguíneas/genética , Consanguinidad , Femenino , Humanos , Glicoproteínas de Membrana/genética , Fenotipo , Análisis de Secuencia de ADNRESUMEN
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*cE221A. 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.
