title: Lack of RH C/E expression in the Rhesus D--phenotype is the result of a gene deletion.
abstract: We have investigated the arrangement of genes in the rare Rh (Rhesus) partial null condition D--. Southern blot and PCR studies under conditions which distinguish the highly homologous RH D and RH C/E genes show that in an Icelandic family with the D-- haplotype at least 85% of the RH C/E gene is deleted. This finding is in contrast to one other published case of this phenotype, where intact RH D and C/E genes were found, and also to the full amorph Rhnull phenotype, where an intact RH C/E gene was found, accompanied by the deletion of the RH D gene typical of Rh D-negative individuals.
authors.affiliation: MRC Human Biochemical Genetics Unit, Galton Laboratory, University College London.
authors.forename: T
authors.initials: T
authors.lastname: Blunt
authors.forename: F
authors.initials: F
authors.lastname: Steers
authors.forename: G
authors.initials: G
authors.lastname: Daniels
authors.forename: B
authors.initials: B
authors.lastname: Carritt
mesh_terms: D001483:Base Sequence; D005091:Exons; D017353:Gene Deletion; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007055:Iceland; D007438:Introns; D008969:Molecular Sequence Data; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012204:Rh-Hr Blood-Group System / Q000235:genetics*
chemical_list: D012204:Rh-Hr Blood-Group System; C026410:Rho(D) antigen