2002 Fiscal Year Final Research Report Summary
Further investigation on the Rh blood group system for the expression of the RH gene and the epitopes of the Rh antigens
| Project/Area Number |
13557038
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 展開研究 |
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| Research Field |
Legal medicine
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| Research Institution | Jichi Medical School |
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Principal Investigator |
KAJII Eiji Jichi Medical School, Dept.of Medicine, Professor, 医学部, 教授 (40204391)
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| Co-Investigator(Kenkyū-buntansha) |
KAMESAKI Toyomi Jichi Medical School, Dept.of Medicine, Lecturer, 医学部, 助手 (90316513)
OKUDA Hiroshi Jichi Medical School, Dept.of Medicine, Assistant Professor, 医学部, 助教授 (50285772)
IWAMOTO Sadahiko Jichi Medical School, Dept.of Medicine, Assistant Professor, 医学部, 助教授 (10232711)
KUMADA Maki Jichi Medical School, Dept.of Medicine, Lecturer, 医学部, 助手 (40326830)
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| Project Period (FY) |
2001 – 2002
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| Keywords | Rh blood group / Rh variant / Partial D / Weak D / Molecular genetics / RHD gene / RHCE gene / Mouse genome |
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| Research Abstract |
The mouse genomic sequence of the region containing the gene Rhced, the orthologue to the human gene RH30, was entirely determined and compared with the corresponding human genomic region. Two genes Smpl and AK003528 (an orthologue of FLJ10747), flank Rhced. Neither sequences homologous to the characteristic nucleotide elements flanking the RHD gene in human (rhesus boxes) nor an additional Rh gene were found within the mouse region sequenced. This result demonstrate that this chromosomal region of the mouse comprises five genes (FLJ10474-RHCE-SMP1-NPD014-P29) that exhibit syntenic homology with the corresponding human region, which suggests that the RHD gene and rhesus boxes were inserted later.
The molecular characterization of weak D and partial D phenotypes was performed. The mutations - G212C (new weak D type), V270G (weak D type 1), and G358A (type 2) - in transmembranous regions had obvious effects on the D epitopes recognized by monoclonal anti-D antibodies. This result provide direct evidence that these mutations can account for weak D phenotypes. A novel partial D phenotype, termed DT1 was found. The DT1 phenotype affected the D polypeptide within the fourth external loop, resulting in a new RHD-CE (entire exon 5)-D hybrid gene. It is worth noting that P226, encoded by exon 5, is derived from E of RhCE in the DT1 polypeptide.
The screening system for detecting the autoantigens in autoimmune hemolytic anemia (AIHA) was constructed by using several recombinant Rh antigens or band 3 protein-expressing KU812 cells. The autoantigens in twenty patients with AIHA were Rh-related ones in 15 cases and band 3 protein in 7 cases.
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[Publications] Kamesaki T, Iwamoto S, Kumada M, Omi T, Okuda H, Tanaka M, Takahashi J, Obara K, Seno T, Tani Y, Kajii E: "Molecular characterization of weak D phenotypes by site-directed mutagenesis and expression of mutant Rh-green fluorescence protein fusions in K562 cells"Vox Sang. 81. 254-258 (2001)
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「研究成果報告書概要(欧文)」より
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[Publications] Omi T, Takahashi J, Seno T, Tanaka M, Hirayama F, Matsuo M, Ueda N, Ohar R, Okuda H, Iwamoto S, Tani T, Kajii E.: "Isolation, characterization, and family study of a novel partial D named DTI affecting the fourth external loop of the RhD polypeptides"Transfusion. 42. 481-489 (2002)
Description
「研究成果報告書概要(欧文)」より
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