title: Rhd and C/cE/e genotyping in Slovenian population.
abstract: The Rhesus (Rh) blood group system is, after ABO, clinically most important. Alloantibodies directed against Rh antigens are the major cause of a haemolytic disease of newborn (HDN) and of transfusion reactions. In search for novel methods for Rh genotyping we started to compare Rh genotypes identified from different tissues and Rh phenotypes. Genotypes determined from blood samples with PCR based RhD, C/c and E/e genotyping methods were compared with serologically identified phenotypes (N=32). With two exceptions the results of phenotyping and genotyping were in concordance. Two Rh serotypes from a Slovenian family that were unexpected according to the Mendelian laws were characterised genotypically. The two family members were suspected to have a chromosomal deletion on RH gene locus.
authors.affiliation: Blood Transfusion Centre of Slovenia, Ljubljana.
authors.forename: R R
authors.initials: RR
authors.lastname: Rupreht
authors.forename: B H
authors.initials: BH
authors.lastname: Faas
authors.forename: V
authors.initials: V
authors.lastname: Bojanic
authors.forename: P A
authors.initials: PA
authors.lastname: van Wijk
authors.forename: L
authors.initials: L
authors.lastname: Glonar
authors.forename: I
authors.initials: I
authors.lastname: Bricl
authors.forename: P
authors.initials: P
authors.lastname: Rozman
authors.forename: V
authors.initials: V
authors.lastname: Curin Serbec
mesh_terms: D005260:Female; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D008297:Male; D010641:Phenotype; D016133:Polymerase Chain Reaction / Q000379:methods; D012204:Rh-Hr Blood-Group System / Q000235:genetics*; D012703:Serotyping; D017524:Slovenia
chemical_list: D012204:Rh-Hr Blood-Group System