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Evidence of genetic diversity underlying Rh D-, weak D (Du), and partial D
phenotypes as determined by multiplex polymerase chain reaction analysis of
the RHD gene
ND Avent, PG Martin, SS Armstrong-Fisher, W Liu, KM Finning, D Maddocks and SJ Urbaniak
International Blood Group Reference Laboratory, Southmead, Bristol, UK.
The human blood group Rh antigens are expressed by proteins encoded by a
pair of highly homologous genes located at chromosome 1p34-36. One of the
genes (RHCE) encodes Rh CcEe antigens, while the other (RHD) the D antigen.
Point mutations in the RHCE gene generate the C/c and E/e polymorphisms,
while it has been shown that an RHD gene deletion can generate the
D-negative phenotype. We have analyzed intron 4 of the RHCE and RHD genes
and have defined the site of an RHD-specific deletion located in this
intron. Using a multiplex RHD typing assay, which combines a reverse
polymerase chain reaction (PCR) primer, which straddles this RHD-specific
sequence, and a pair of primers located in exon 10 of the RHD gene, we have
analyzed 357 different genomic DNA samples derived from individuals
expressing D+, D-, weak D, and partial D phenotypes. Of these, we have
noted a significant discordance with our multiplex PCR assay in the D-
phenotypes dCcee and dccEe (which have been previously described) and weak
D phenotypes. Our results suggest that in five serologically D- individuals
we have identified an apparently intact RHD gene. Sequence analysis of
transcripts obtained from one of these individuals (of phenotype dCCee)
illustrates the presence of full-length RHD transcripts, which have a point
mutation at nucleotide 121 (C --> T), which generates an in-frame stop
codon (Gln41Stop). Thus, we describe a different molecular basis for
generating the D- phenotype to the complete RHD gene deletion described
previously. We also show that there are discordances with serotype and the
multiplex assay in weak D and partial D phenotypes, indicating that the
underlying molecular basis can be heterogeneous. Existing Rh D PCR assays
assume the complete absence of the RHD gene in D- phenotypes. We describe a
different molecular basis for generating the D- phenotype to the complete
RHD gene deletion described previously.
Volume 89,
Issue 7,
pp. 2568-2577,
04/01/1997
Copyright © 1997 by The American Society of Hematology
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