Abstract: The present invention relates to a nucleic acid molecular structure representing the Rhesus genes locus comprising the RHD, SMP1 and RHCE genes and/or the Rhesus box(es), preferably the hybrid Rhesus box, the upstream Rhesus bar and/or the downstream Rhesus box. Furthermore, the invention relates to a process for the specific detection of the common RHD negative haplotypes. The invention further relates to the detection of RHD positive hyplotypes in D-negative individuals. Various mutations in the RHD gene have been identified that allow for the development of diagnostic tools. The invention also relates to oligonucleotides, that specifically hybridize to the hybrid box, preferably the breakpoint or breakpoint region or to the upstream and downstream Rhesus boxes. Additionally, the invention relates to kits comprising or employing the above recited compounds of the invention.

Abstract: The RH blood group antigens derive from two genes, RHD and RHCE, that are located at chromosomal position 1p34.1-1p36. In whites, a “cde” haplotype with a deletion of the whole RHD gene occurs with a frequency of about 40%. The relative position of the two RH genes and the location of the RHD deletion was previously unknown. A model for the RH locus was developed using RHD- and RHCE-related nucleotide sequences deposited in nucleotide sequence databases along with 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 pairs (bp) that contained the SMP1 gene. The RHD gene was flanked by two DNA segments, dubbed Rhesus boxes, that had about 9,000 bp length, 98.6% homology, and identical orientation. The Rhesus box contained the RHD deletion occurring within a stretch of 1,463 bp of identity. A PCR-SSP and a PCR-RFLP for specific detection of the RHD deletion was devised.

Abstract: The present invention relates to a nucleic acid molecular structure representing the Rhesus genes locus comprising the RHD, SMP1 and RHCE genes and/or the Rhesus box(es), preferably the hybrid Rhesus box, the upstream Rhesus bar and/or the downstream Rhesus box. Furthermore, the invention relates to a process for the specific detection of the common RHD negative haplotypes. The invention further relates to the detection of RHD positive hyplotypes in D-negative individuals. Various mutations in the RHD gene have been identified that allow for the development of diagnostic tools. The invention also relates to oligonucleotides, that specifically hybridize to the hybrid box, preferably the breakpoint or breakpoint region or to the upstream and downstream Rhesus boxes. Additionally, the invention relates to kits comprising or employing the above recited compounds of the invention.

Abstract: The present invention relates to novel nucleic acid molecules encoding a Rhesus D antigen contributing to the weak D phenotype which are characterized by one or a combination of missense mutations or by a gene conversion involving exons 6 to 9 of the RHD and RHCE genes. The present invention further relates to vectors comprising the nucleic acid molecules of the invention, to hosts transformed with said vectors, to proteins encoded by said nucleic acid molecules and to methods of producing such polypeptides. The fact that missense mutations and the conversion referred to above can be directly correlated to the weak D phenotype has a significant impact on the routine testing of blood samples. For example, oligonucleotides and antibodies can now be designed that generally allow the detection of weak D phenotypes in a sample. Such oligonucleotides, antibodies as well as a variety of diagnostic methods all fall within the scope of the present invention.

Abstract: The present invention relates to novel nucleic acid molecules encoding a Rhesus D antigen contributing to the weak D phenotype which are characterized by one or a combination of missense mutations or by a gene conversion involving exons 6 to 9 of the RHD and RHCE genes. The present invention further relates to vectors comprising the nucleic acid molecules of the invention, to hosts transformed with said vectors, to proteins encoded by said nucleic acid molecules and to methods of producing such polypeptides. The fact that missense mutations and the conversion referred to above can be directly correlated to the weak D phenotype has a significant impact on the routine testing of blood samples. For example, oligonucleotides and antibodies can now be designed that generally allow the detection of weak D phenotypes in a sample. Such oligonucleotides, antibodies as well as a variety of diagnostic methods all fall within the scope of the present invention.

Abstract: The present invention relates to novel nucleic acid molecules encoding a Rhesus D antigen contributing to the weak D phenotype which are characterized by one or a combination of missense mutations or by a gene conversion involving exons 6 to 9 of the RHD and RHCE genes. The present invention further relates to vectors comprising the nucleic acid molecules of the invention, to hosts transformed with said vectors, to proteins encoded by said nucleic acid molecules and to methods of producing such polypeptides. The fact that missense mutations and the conversion referred to above can be directly correlated to the weak D phenotype has a significant impact on the routine testing of blood samples. For example, oligonucleotides and antibodies can now be designed that generally allow the detection of weak D phenotypes in a sample. Such oligonucleotides, antibodies as well as a variety of diagnostic methods all fall within the scope of the present invention.

Abstract: The present invention relates to novel nucleic acid molecules encoding a Rhesus D antigen contributing to the weak D phenotype which are characterized by one or a combination of missense mutations or by a gene conversion involving exons 6 to 9 of the RHD and RHCE genes. The present invention further relates to vectors comprising the nucleic acid molecules of the invention, to hosts transformed with said vectors, to proteins encoded by said nucleic acid molecules and to methods of producing such polypeptides. The fact that missense mutations and the conversion referred to above can be directly correlated to the weak D phenotype has a significant impact on the routine testing of blood samples. For example, oligonucleotides and antibodies can now be designed that generally allow the detection of weak D phenotypes in a sample. Such oligonucleotides, antibodies as well as a variety of diagnostic methods all fall within the scope of the present invention.

Abstract: The present invention relates to novel nucleic acid molecules encoding a Rhesus D antigen contributing to the weak D phenotype which are characterized by one or a combination of missense mutations or by a gene conversion involving exons 6 to 9 of the RHD and RHCE genes. The present invention further relates to vectors comprising the nucleic acid molecules of the invention, to hosts transformed with said vectors, to proteins encoded by said nucleic acid molecules and to methods of producing such polypeptides. The fact that missense mutations and the conversion referred to above can be directly correlated to the weak D phenotype has a significant impact on the routine testing of blood samples. For example, oligonucleotides and antibodies can now be designed that generally allow the detection of weak D phenotypes in a sample. Such oligonucleotides, antibodies as well as a variety of diagnostic methods all fall within the scope of the present invention.