Lack of RH C/E expression in the Rhesus D– phenotype is the result of a gene deletion

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SUMMARY

We have investigated the arrangement of genes in the rare Rh (Rhesus) partial null condition D–, Southern blot and PCR studies under conditions which distinguish the highly homologous RH D and RH C/E genes show 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 published case of this phenotype, where intact RH D and C/E genes were found, and also to the full amorph Rhnull phenotype, where an intact RH C/E gene was found, accompanied by the deletion of the RH D gene typical of Rh D-negative individuals.

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