Rhd and C/cE/e genotyping in Slovenian population.
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.
Rupreht
R R
RR
Blood Transfusion Centre of Slovenia, Ljubljana.
Faas
B H
BH
Bojanic
V
V
van Wijk
P A
PA
Glonar
L
L
Bricl
I
I
Rozman
P
P
Curin Serbec
V
V
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
D012204:Rh-Hr Blood-Group System