Predicted
molecular structure of the 17 RHD positive, D negative or Del
alleles detected. For each haplotype, a schematic representation of
the molecular structure is shown along with a designation, haplotype association,
phenotype, and numbers of samples observed. Each
RHD exon is indicated
by a box, intron and promoter polymorphism investigated are shown as circles.
White symbols indicate the presence of RHD specific sequences, black
symbols their lack as predicted form the RHD exon-specific PCR-SSP
results. Exons 1, 2, and 8 are shown in gray, because they are identical
in RHD and some RHCE alleles. Panel A: Hybrid alleles.
The molecular structures are represented as single hybrid alleles; it should
be noted that the PCR patterns could also be caused by combinations of
hybrid alleles or by partial RHD deletions. Hybrid alleles may be
caused by a gene
conversion mechanism in cis. Panel B: Other alleles.
The nature of the aberration is indicated, and its position visualized
by a vertical bar. The RHD(M295I) allele is similar to weak D type
11 but represents a different haplotype and phenotype.
see for original article:
BMC
Genet 2001; 2: 10
last modified 12 Aug 2001