T. Blunt et al., LACK OF RH C E EXPRESSION IN THE RHESUS D-- PHENOTYPE IS THE RESULT OF A GENE DELETION/, Annals of Human Genetics, 58, 1994, pp. 19-24
We have investigated the arrangement of genes in the rare Rh (Rhesus)
partial null condition D--. Southern blot and PCR studies under condit
ions which distinguish the highly homologous RH D and RH C/E genes sho
w that in an Icelandic family with the D-- haplotype at least 85 % of
the RH C/E gene is deleted. This finding is in contrast to one other p
ublished case of this phenotype, where intact RH D and C/E genes were
found, and also to the full amorph Rh-null phenotype, where an intact
RH C/E gene was found, accompanied by the deletion of the RH D gene ty
pical of Rh D-negative individuals.