A Dc- phenotype encoded by an RHCE-D(5-7/8)-CE hybrid allele.
OBJECTIVE
The Rh system is genetically controlled by the homologous RHD and RHCE genes that encode the RhD and RhCcEe polypeptides, respectively. Deletions, point mutations and rearrangements between both genes are responsible for the great polymorphism of this system. The aim of this work was to analyse the genetic basis of a Dc- phenotype.


METHODS
DNA samples from the Dc- propositus and family members were obtained from peripheral blood. RHCE intron 4-exon 5 and RH exons 4, 5, 6 and 7 were analysed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Exon 9 was studied by PCR-sequence-specific primers (SSP). The RH locus was further analysed by using a PCR designed for a hybrid allele.


RESULTS
No RHCE-specific fragments were found when analysing exons 5, 6 and 7 of the RH locus from the propositus' DNA, while exons 4 and 9 of both RH genes were present.


CONCLUSIONS
The results obtained indicated that the Dc- phenotype is encoded by a novel RHCE-D(5-7/8)-CE hybrid allele.
Cotorruelo
C M
CM
Laboratorio de Inmunohematología Histocompatibilidad e Inmunogenética, Departamento de Bioquímica Clínica, Facultad de Ciencias Bioquímicas y Farmacéuticas, Universidad Nacional de Rosario, Rosario, Argentina. ccotorru@fbioyf.unr.edu.ar
Biondi
C S
CS
Borrás
S E García
SE
Di Mónaco
R A
RA
Racca
A
A
D000483:Alleles; D004252:DNA Mutational Analysis; D000939:Epitopes; D005091:Exons; D005192:Family Health; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D011110:Polymorphism, Genetic; D012204:Rh-Hr Blood-Group System / Q000235:genetics* / Q000276:immunology
D000939:Epitopes; D006023:Glycoproteins; C066468:RHCE protein, human; D012204:Rh-Hr Blood-Group System