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.
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BMC
Genet 2001; 2: 10
last modified 12 Aug 2001