| Project/Area Number |
09672317
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Human genetics
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| Research Institution | Institute for Developmental Research, Aichi |
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Principal Investigator |
SONTA Shin-ichi Aichi Hum.Serv.Ctr., Inst.Dev.Res., Dept.Genetics, Chief, 遺伝学部, 室長 (00100165)
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| Co-Investigator(Kenkyū-buntansha) |
ONO Takao Aichi Hum.Serv.Ctr., Inst.Dev.Res., Dept.Genetics, Researcher, 遺伝学部, 研究員 (20291172)
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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 |
¥1,400,000 (Direct Cost: ¥1,400,000)
Fiscal Year 1998: ¥500,000 (Direct Cost: ¥500,000)
Fiscal Year 1997: ¥900,000 (Direct Cost: ¥900,000)
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| Keywords | microsatellite / chromosome abnormality / contiguous gene syndromes / rearrangement / mosaicism / genomic imprint / cleavage |
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| Research Abstract |
From detection of the microsatellite polymorphism, we studied the origin and mechanisms of chromosomal abnormalities in contiguous gene syndromes and genetic diseases. In Angelman and Prader-Willi syndromes, we obtained genomic DNAs from patients and their parents, and analyzed polymorphism in 9 microsatellites near the centromere to the distal end of chromosome 15. Out of 12 cases examined, two showed a chromosome 15 of both paternal and maternal origins. The result indicates that the chromosome probably relating to the mechanism of this syndrome occurred by rearrangements between chromatids of paternal and maternal chromosome 15. On the other hand, we examined 10 families in patients with complex chromosomal rearrangements and mosaics accompanied by rearrangements. The analyses of microsatellite polymorphism revealed that some rearrangements had both paternal and maternal chromosome origins. This finding indicates that such chromosomal abnormalities may often occur in the early stages of cleavage after fertilization. Further microsatellite analyses of dermoid cysts indicated that this teratoma may develop from primary oocytes or cells before that stage, , because the pattern of microsatellite polymorphism was the same as in normal cells from each patient. In experimental animals, we attempted to induce chromosomal abnormalities by X-irradiation during early cleavage stages. We obtained various chromosomal rearrangements that cause abnormalities such as the uniparental disomies and other abnormalities seen in humans.
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