Molecular genetic analysis of the Japanese amorph Rhnull phenotype

Department of Legal Medicine and Human Genetics, Jichi-Medical School, Tochigi Japan
Transfusion (Impact Factor: 3.53). 04/2002; 40(5):617 - 618. DOI: 10.1046/j.1537-2995.2000.40050617.x
  • [Show abstract] [Hide abstract]
    ABSTRACT: The deficiency of Rh proteins on red blood cells (RBCs) from individuals of the Rh(null) amorph type are the result of homozygosity for a silent RHCE in cis with a deleted RHD. A novel mutation in RHce was identified in two Caucasian Brazilian girls with the amorph type of Rh(null) who were born to parents who were first cousins. RBCs from the Rh(null) sisters and from family members were analyzed by serology and flow cytometry with specific antibodies. Genomic DNA and transcripts were tested by polymerase chain reaction and sequence analysis. Rh(null) RBCs were nonreactive with anti-Rh and anti-LW. Molecular analyses showed a deletion of RHD and of one nucleotide (960/963; GGGG-->GGG) in exon 7 of the RHce. This deletion introduced a frameshift after Gly321, a new C-terminal sequence, and a premature stop codon, resulting in a shorter predicted protein with 357 amino acids. The detection of a unique RHce transcript indicated that the two sisters were homozygous, whereas the other family members were heterozygous for the mutation. A novel mutation resulting in the amorph Rh(null) with loss of Rh antigen expression is described.
    Transfusion 11/2005; 45(11):1796-8. · 3.53 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: The Rh system clinically is one of the important blood groups. The major Rh antigens, which are constituted by over 40 types, are RhD, RhC/c, and RhE/e. Furthermore, Rh blood group system is characterized by the existence of many variants. It was considered that Rh blood group system was encoded on two genes termed the RHCE and RHD, which are composed of ten exons, respectively. It is inferred that the RHD gene encodes the RhD antigen and that the RHCE gene encodes the Rh C/c and RhE/e antigens. There are RHce, RHCe, RHcE and RHCE alleles as polymorphisms of RHCE gene. In 2000, the entire nucleotide sequences in all introns of both the RHD and RHCE genes were determined. Due to the new findings on RH genes, it is thought that multiple recombination (and/or gene conversion), nucleotide substitutions, small nucleotide gaps, replication slippage of microsatellite, large nucleotide gaps (due to Alu sequence) and the high level of the homology (%) between both RH genes are the important factors in the formation and evolution of both RH genes and Rh variants. Based on the advance of human genome project, the new interpretations on the evolution and formation of RH genes and Rh variants will be performed. Human Rh family (superfamily) and its counterparts in primates, mammals, fish, amphibians, bacteria, lower eukaryotes, archaea and plants have been identified. A lot of findings have been accumulated in their evolution and function. As gene conversions or recombination events confuse the phylogenetic tree of human RH genes and their counterparts, careful attention is necessary for researchers to calculate the time of gene duplication and to discuss the evolution of Rh family and its counterparts.Rh genotyping methods will never be perfect and both the clinicians and researchers have to recognize the limitation of Rh genotyping, especially RhD genotyping, because new Rh variants must have formed continually. In applying the Rh genotyping to clinical medicine, especially transfusion medicine, it is necessary to compare and examine the serological (phenotypic) data in Rh blood group system with caution.
    Legal Medicine 10/2002; 4(3):139-55. · 1.08 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: A simple laser interferometer for laser and astronomical optics testing is proposed. It consists of a small concave or convex mirror, a gas laser, a semitransparent flat mirror and concave mirror or a system under test, and a register equipment. The interferometer works the, following way: laser beam is reflected by concave or convex micromirror and then it is directed to the semitransparent flat mirror, and to the mirror or the system under test. The light reflected by the flat mirror of the interferometer is the reference wave, the light, reflected by the mirror of the system under test is imperfect wave to be tested. The reference wave and the imperfect wave are recombined to produce a system of Twyman-Green fringes in a receiving screen or in a register equipment to obtain interferograms. It is possible also to test any concave ellipsoidal mirror by properly shifting of the semitransparent flat mirror along the optical axis of the mirror under test. By the way, a spherical surface is a spherical case of an ellipsoid. Hyperboloidal mirror may be tested by means of the incorporation of a null corrector, for example Offner type one. The interferometer was successfully manufactured and tested at the Crimean Astrophysical Observatory
    4thLaser and Fiber-Optical Networks Modeling, 2002. Proceedings of LFNM 2002. International Workshop on; 02/2002