title: RHD gene deletion occurred in the Rhesus box.
abstract: The Rh blood group antigens derive from 2 genes, RHD and RHCE, that are located at chromosomal position 1p34.1-1p36 (chromosome 1, short arm, region 3, band 4, subband 1, through band 6). In whites, a cde haplotype with a deletion of the whole RHD gene occurs with a frequency of approximately 40%. The relative position of the 2 RH genes and the location of the RHD deletion was previously unknown. A model has been developed for the RH locus using RHD- and RHCE-related nucleotide sequences deposited in nucleotide sequence databases along with polymerase chain reaction (PCR) and nucleotide sequencing. The open reading frames of both RH genes had opposite orientations. The 3' ends of the genes faced each other and were separated by about 30 000 base pair (bp) that contained the SMP1 gene. The RHD gene was flanked by 2 DNA segments, dubbed Rhesus boxes, with a length of approximately 9000 bp, 98.6% homology, and identical orientation. The Rhesus box contained the RHD deletion occurring within a stretch of 1463 bp of identity. PCR with sequence-specific priming (PCR-SSP) and PCR with restriction fragment length polymorphism (PCR-RFLP) were used for specific detection of the RHD deletion. The molecular structure of the RH gene locus explains the mechanisms for generating RHD/RHCE hybrid alleles and the RHD deletion. Specific detection of the RHD(-) genotype is now possible. (Blood. 2000;95:3662-3668)
authors.affiliation: Abteilung Transfusionsmedizin, Universitätsklinikum Ulm, Ulm, Germany. waf@ucsd.edu
authors.forename: F F
authors.initials: FF
authors.lastname: Wagner
authors.forename: W A
authors.initials: WA
authors.lastname: Flegel
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D004247:DNA / Q000097:blood; D017931:DNA Primers; D005091:Exons; D017353:Gene Deletion; D006023:Glycoproteins / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D008969:Molecular Sequence Data; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011401:Promoter Regions, Genetic; D012204:Rh-Hr Blood-Group System / Q000235:genetics*
chemical_list: D017931:DNA Primers; D006023:Glycoproteins; C066468:RHCE protein, human; D012204:Rh-Hr Blood-Group System; D004247:DNA