title: Rh phenotype prediction by DNA typing and its application to practice.
abstract: The complexity of the RHD and RHCE genes, which is the greatest of all blood group systems, confounds analysis at the molecular level. RH DNA typing was introduced in 1993 and has been applied to prenatal testing. PCR-SSP analysis covering multiple polymorphisms was recently introduced for the screening and initial characterization of partial D. Our objective is to summarize the accrued knowledge relevant to the approaches to Rh phenotype prediction by DNA typing, their possible applications beyond research laboratories and their limitations. The procedures, results and problems encountered are highly detailed. It is recommended that DNA typing comprises an analysis of more than one polymorphism. We discuss future directions and propose a piecemeal approach to improve reliability and cost-efficiency of blood group genotyping that may eventually replace the prevalent serology-based techniques even for many routine tasks. Transfusion medicine is in the unique position of being able to utilize the most extensive phenotype databases available to check and develop genotyping strategies.
authors.affiliation: Abteilung Transfusionsmedizin, Universitätsklinikum Ulm, Germany. waf@ucsd.edu
authors.forename: W A
authors.initials: WA
authors.lastname: Flegel
authors.forename: F F
authors.initials: FF
authors.lastname: Wagner
authors.forename: T H
authors.initials: TH
authors.lastname: Müller
authors.forename: C
authors.initials: C
authors.lastname: Gassner
mesh_terms: D001803:Blood Transfusion / Q000379:methods*; D004247:DNA / Q000097:blood*; D006801:Humans; D010641:Phenotype; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012204:Rh-Hr Blood-Group System / Q000235:genetics*
chemical_list: D012204:Rh-Hr Blood-Group System; D004247:DNA