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Alteration of RH gene structure and expression in human dCCee and DCW- red
blood cells: phenotypic homozygosity versus genotypic heterozygosity
CH Huang
Lindsley F. Kimball Research Institute, New York Blood Center, New York
10021, USA.
This report describes a comparative study on the dCCee and DCW-red blood
cells devoid of RhD and CcEe antigens, respectively. Southern blots showed
that the two variants carried opposite deletions in the D and non-D (CcEe)
genes. Rh haplotyping and exon polymerase chain reaction (PCR) assay
indicated that the deletions did not extend beyond the 5' region upstream
from exon 1 or the 3' region downstream from exon 10 of the respective
genes. This was confirmed by finding intact promoters and 3' untranslated
regions in both D and non-D genes in each variant. Reverse
transcriptase-PCR and cDNA sequencing showed the expression of two
transcripts in each cell type. In dCCee cells, one transcript was the
regular Ce form and the other occurred as a D-Ce-D hybrid whose Ce sequence
spanned exons 2 through 9. In DCW-cells, the two transcripts were derived
from reversely arranged hybrid genes, ie, the CW-D gene was formed by
fusion of CW exon 1 with D exons 2 through 10, whereas the reverse product
was formed by fusion of D exons 1 through 9 with non-D exon 10. These
results indicated that DNA deletion and recombination had occurred in
either cis or trans configuration and involved both RH loci in the dCCee or
DCW-genome. Identification of such compound alterations correlates the
genotypes with phenotypes and explains the lost Rh antigenic expression. A
reinvestigation of gene organization also led to the reassignment of
several 5' and 3' splice sites. Together, this study not only shows the
complexity of Rh phenotypic diversity, but also points to the importance of
concurrent analysis of genomic structure and transcript expression in
deciphering the underlying genetic mechanisms.
Volume 88,
Issue 6,
pp. 2326-2333,
09/15/1996
Copyright © 1996 by The American Society of Hematology
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