Development of the biomarker for th e clinical diagnosis of Diamond-Blackfan Anemia
Project/Area Number |
21591228
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Single-year Grants |
Section | 一般 |
Research Field |
Hematology
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Research Institution | National Institute of Infectious Diseases |
Principal Investigator |
HAMAGUCHI Isao 国立感染症研究所, 血液・安全性研究部, 部長 (90348780)
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Project Period (FY) |
2009 – 2011
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Project Status |
Completed (Fiscal Year 2011)
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Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2011: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2010: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2009: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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Keywords | 先天性赤芽球癆 / バイオマーカー / リボソームタンパク質 / アレル欠失 / DBA遺伝子 / 先天性赤芽球癆(DBA) / リボソームタンパク / 検出システム / 遺伝子コピー数 |
Research Abstract |
Some of Diamond-Blackfan anemia(DBA) patients possess mutations in genes coding for ribosomal proteins(RPs). To identify new mutations, we investigated large deletions in the Ribosomal Protein genes. We developed an easy method based on quantitative-PCR in which the threshold cycle correlates to gene copy number. Using this approach, we were able to diagnose 7 of 27 Japanese patients possessing mutations that were not detected by sequencing. All patients with a large deletion had a growth retardation phenotype. Our study data suggest that large deletions in RP genes comprise a sizable fraction of DBA patients in Japan. In addition, our novel approach may become a useful tool for screening gene copy numbers of known DBA genes and biomarker of severe phenotype.
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Report
(4 results)
Research Products
(20 results)
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[Journal Article] Extensive gene deletions in Japanese patients with Diamond. Blackfan anemia2012
Author(s)
Kuramitsu M, Sato-Otsubo A, Morio T, Takagi M, Toki T, Terui K, Wang R, Kanno H, Ohga S, Ohara A, Kojima S, Kitoh T, Goi K, Kudo K, Matsubayashi T, Mizue N, Ozeki M, Masumi A, Momose H, Takizawa K, Mizukami T, Yamaguchi K, Ogawa S, Ito E, and Hamaguchi I
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Journal Title
Blood
Volume: 119
Pages: 2376-2384
Related Report
Peer Reviewed
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[Presentation] Extensive gene deletions in Japanese patients with Diamond Blackfan anemia2011
Author(s)
Kuramitsu M, Matsubara A, Morio T, Takagi M, Toki T, Terui K, Wang R, Kanno H, Ohga S, Ohara A, Masumi A, Momose H, Mizukami T, Takizawa K, Yamaguchi K, Ogawa S, Ito E, Hamaguchi I
Organizer
第73回日本血液学会
Place of Presentation
名古屋
Year and Date
2011-10-14
Related Report
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[Presentation] New Determination Method for Extensive Gene Deletions in Diamond-Blackfan Anemia2010
Author(s)
Kuramitsu M, Morio T, Takagi M, Toki T, Terui K, Wang R, Masumi A, Mizukami T, Momose H, Takizawa K, Yamaguchi K, Ito E, Hamaguchi I
Organizer
52^<nd> ASH^[(R)] Annual Meeting and Exposition
Place of Presentation
Orlando
Year and Date
2010-12-07
Related Report
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[Presentation] A novel method to analyze genomic copy number of Diamond Blackfan anemia responsible genes2010
Author(s)
Kuramitsu M, Morio T, Takagi M, Ozeki M, Masumi A, Mizukami T, Momose H, Takizawa K, Etsuro I, Yamaguchi K, Hamaguchi I
Organizer
第72回日本血液学会
Place of Presentation
横浜
Year and Date
2010-09-24
Related Report
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