| Project/Area Number |
17019014
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| Research Category |
Grant-in-Aid for Scientific Research on Priority Areas
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| Allocation Type | Single-year Grants |
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| Review Section |
Biological Sciences
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| Research Institution | Tokyo Medical and Dental University |
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Principal Investigator |
IMOTO Issei Tokyo Medical and Dental University, 難治疾患研究所, 准教授 (30258610)
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| Co-Investigator(Kenkyū-buntansha) |
INAZAWA Jyoji 東京医科歯科大学, 難治疾患研究所, 教授 (30193551)
蒔田 芳男 旭川医科大学, 医学部, 教授 (20271778)
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| Co-Investigator(Renkei-kenkyūsha) |
MAKITA Yoshio 旭川医科大学, 医学部, 教授 (20271778)
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| Project Period (FY) |
2005 – 2009
|
| Project Status |
Completed (Fiscal Year 2009)
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| Budget Amount *help |
¥63,700,000 (Direct Cost: ¥63,700,000)
Fiscal Year 2009: ¥11,500,000 (Direct Cost: ¥11,500,000)
Fiscal Year 2008: ¥11,500,000 (Direct Cost: ¥11,500,000)
Fiscal Year 2007: ¥13,500,000 (Direct Cost: ¥13,500,000)
Fiscal Year 2006: ¥13,600,000 (Direct Cost: ¥13,600,000)
Fiscal Year 2005: ¥13,600,000 (Direct Cost: ¥13,600,000)
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| Keywords | ヒトゲノム / アレイCGH / ゲノム構造異常 / 先天異常 / 染色体 / ゲノム / アレイCGH法 / BACアレイ / 潜在的コピー数異常 / Copy-number variation (CNV) / 遺伝疾患 / ゲノムコピー数異常 / Copy number variation / ゲノム一次構造異常 / 癌 |
|---|
| Research Abstract |
In order to identify genes related to pathogenesis and progression of human diseases, we developed various genomic DNA-array platforms as analytical tools for structural human genome variations, and performed analyses of cryptic copy-number alterations in patients with multiple congenital anomaly/mental retardation (MCA/MR) using these tools. Through systematic array-assisted approach and additional analyses of genes located within regions with copy-number variations, we established technical bases of genomic arrays as diagnostic tools and identified various disease-related regions/genes in patients with MCA/MR.
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