title: Molecular RHD-RHCE Analysis by Multiplex PCR of Short Fluorescent Fragments.
abstract: Several hundred variant alleles have been reported within the homologous RHD and RHCE genes that encode the antigens involved in the human Rh blood group system, which is of the main interest in the field of both transfusion and obstetrical medicine. Although these variants can be mostly characterized at the molecular level by sequence-specific primer polymerase chain reaction (SSP-PCR) and/or direct sequencing, some allelic combinations remain unresolved by conventional methods. Typically exon deletion or hybrid genes may be difficult to assess in a heterozygous context. Here we describe a qualitative and quantitative method to resolve copy number variations in the RH gene exons by quantitative multiplex polymerase chain reaction (PCR) of short fluorescent fragments (QMPSF).
authors.affiliation: Etablissement Français du Sang (EFS) - Bretagne, 46 rue Félix Le Dantec, 29218, Brest, France, Yann.Fichou@efs.sante.fr.
authors.forename: Yann
authors.initials: Y
authors.lastname: Fichou
authors.forename: Claude
authors.initials: C
authors.lastname: Férec
mesh_terms: D004247:DNA / Q000235:genetics; D056915:DNA Copy Number Variations; D017931:DNA Primers / Q000235:genetics; D057225:Data Mining / Q000379:methods; D019075:Electrophoresis, Capillary / Q000379:methods; D005091:Exons; D006801:Humans; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods*; D012204:Rh-Hr Blood-Group System / Q000235:genetics*
chemical_list: D017931:DNA Primers; C066468:RHCE protein, human; D012204:Rh-Hr Blood-Group System; C026410:Rho(D) antigen; D004247:DNA