Analysis of generating mechanism of supernumerary marker chromosome using next generation sequencer
| Project/Area Number |
16K08981
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Laboratory medicine
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| Research Institution | Fujita Health University |
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Principal Investigator |
Ohye Tamae 藤田医科大学, 保健学研究科, 准教授 (10247661)
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| Project Period (FY) |
2016-04-01 – 2020-03-31
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| Project Status |
Completed (Fiscal Year 2019)
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| Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2018: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2016: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Keywords | 過剰マーカー染色体 / 次世代シーケンサー / 発生メカニズム / 染色体粉砕現象 / DNA複製 / 染色体構造異常 |
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| Outline of Final Research Achievements |
Supernumerary small marker chromosomes (SMC), which are small excess chromosomes, are chromosomal abnormalities that occur relatively frequently. In this study, structural analyses of marker chromosomes were performed using next-generation sequencing and comparative genomic hybridizations, and the origins and breakpoints of marker chromosomes were examined. As a result, it was presumed that the marker chromosome has not only simple cleavage and binding but also a complicated structure due to various developmental mechanisms such as DNA replication and chromothripsis.
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| Academic Significance and Societal Importance of the Research Achievements |
過剰マーカー染色体は、病態の原因となる場合があり、その由来を知る事は臨床的に重要であるが、実際には、発生機構はもとより、正確なゲノム領域やその構造もよく解らないままに診断されている。本研究により、発生メカニズムは、単純なセントロメア領域から構成されるものだけではなく、DNA複製のエラーや染色体粉砕現象などの関与が考えられ、染色体構成領域が様々であることから、臨床検査として、由来領域を精査することは、患者の予後予測に有用となると考えられた。
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Report
(5 results)
Research Products
(55 results)
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[Journal Article] Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion.2019
Author(s)
Yokoi K, Nakajima Y, Ohye T, Inagaki H, Wada Y, Fukuda T, Sugie H, Yuasa I, Ito T, Kurahashi H.
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Journal Title
JIMD Rep.
Volume: 43
Pages: 85-90
DOI
ISBN
9783662586136, 9783662586143
Related Report
Peer Reviewed / Open Access
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