| Project/Area Number |
23592562
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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 |
Ophthalmology
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| Research Institution | Hamamatsu University School of Medicine |
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Principal Investigator |
MINOSHIMA Shinsei 浜松医科大学, メディカルフォトニクス研究センター, 教授 (90181966)
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| Co-Investigator(Kenkyū-buntansha) |
OHISHI Kentaro 浜松医科大学, メディカルフォトニクス研究センター, 助教 (80345826)
OHTSUBO Masafumi 浜松医科大学, メディカルフォトニクス研究センター, 助教 (10327653)
ISMAIL Thanseem 浜松医科大学, メディカルフォトニクス研究センター, 特任研究員 (60569846)
HOTTA Yoshihiro 浜松医科大学, 医学部, 教授 (90173608)
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| Project Period (FY) |
2011 – 2013
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| Project Status |
Completed (Fiscal Year 2013)
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| Budget Amount *help |
¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2013: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2012: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2011: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Keywords | 開放隅角緑内障 / 正常眼圧緑内障 / コピー数多型 / CNV / ゲノムワイド解析 / マイクロアレイ / 欠失 / 重複 / 高眼圧症 |
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| Research Abstract |
To detect the genomic copy number variation(s) (CNV) which affect the onset of primary open-angle glaucoma (POAG), 44 members from 34 families with the disease were subjected to the microarray assay. Of 1195 CNV loci found, 8 (6 sites of deletion and 2 of duplication) of patients-specific ones were novel or very rare and considered to change the dosage of gene. Deletion loci contained 7 genes and duplication ones 5 genes. These 12 genes possibly cause POAG by the abnormal increase or decrease of gene copy number.
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