| Project/Area Number |
09557041
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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) |
KAWANO Masaki Jichi Medical School, Dept.of Medicine, Lecturer, 医学部, 助手 (00265274)
OMI Toshinori Jichi Medical School, Dept.of Medicine, Lecturer, 医学部, 助手 (40296091)
OKUDA Hiroshi Jichi Medical School, Dept.of Medicine, Lecturer, 医学部, 助手 (50285772)
IWAMOTO Sadahiko Jichi Medical School, Dept.of Medicine, Assistant Prof., 医学部, 助教授 (10232711)
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| Project Period (FY) |
1997 – 1998
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| Project Status |
Completed (Fiscal Year 1998)
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| Budget Amount *help |
¥7,900,000 (Direct Cost: ¥7,900,000)
Fiscal Year 1998: ¥2,300,000 (Direct Cost: ¥2,300,000)
Fiscal Year 1997: ¥5,600,000 (Direct Cost: ¥5,600,000)
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| Keywords | Rh system / blood group / RH gene / nucleotide sequence / D^<va> / STR / Rh_<null> / 遺伝子 / プロモーター / 変異型 |
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| Research Abstract |
The molecular analyses on the Rh blood group showed the following results.
(1) The nucleotide sequences of RHD and RHCE genes were almost determined.
(2) The nucleotide-sequencing of the spacer region between the RHD and RHCE genes was nearly finished.
(3) We identified simple sequence repeat polymorphism in intron 8 of the RHD and RHCE genes, both of which contained the 5bp repeat unit, (AAAAT)n in loci. The polymorphisms of this short tandem repeat (STR) suggests that the RhD-negative with a non-functional RHD gene might have arisen from DCe haplotype via mutation, which abolished the RHD gene. Based on these findings, the STR polymorphisms may shed light upon the molecular evolution of RH haplotype.
(4) We demonstrated a genomic organization of the hybrid RHD-CE-D gene leading to the D^<va> jthenotype, and showed that the D^<va> gene was generated from gene conversion between the RHD and RHCE genes in relatively small regions. This study also revealed that the presence of a new partial D associated with the D^<va> phenotype, which we termed the D^<va>-like phenotype.
(5) In a propositus with the Rhnull phenotype, the molecular analyses showed a deletion of 122bp in the RHAG-cDNA, which was revealed to be due to a homozygous splicing mutation. This result confirms that the RHAG gene is the most likely candidate for the regulator gene of Rhnufl cases.
In a patient with myelodysplastic syndrome (MDS), the phenotype of the Rh system altered from D(+), C(+), c(+), E(+), e(+) to D(-), C(-), c(+), E(-), e(+) according to the progression of MDS.Its reason was demonstrated to be microdeletion containing the RHD and RHCE genes.
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