| Project/Area Number |
23390288
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Psychiatric science
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| Research Institution | Hirosaki University (2013)
Hamamatsu University School of Medicine (2011-2012) |
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Principal Investigator |
NAKAMURA KAZUHIKO 弘前大学, 医学(系)研究科(研究院), 教授 (80263911)
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| Co-Investigator(Kenkyū-buntansha) |
OUCHI Yasuomi 浜松医科大学, 学内共同利用施設等, 教授 (40436978)
TSUZII Masatsugu 中京大学, 現代社会学部, 教授 (20257546)
IWATA Yasuhide 浜松医科大学, 医学部附属病院, 講師 (10285025)
SUZUKI Katsuaki 浜松医科大学, 学内共同利用施設等, 准教授 (00285040)
MORI Norio 浜松医科大学, 医学部, 教授 (00174376)
TAKEBAYASHI Kiyokazu 浜松医科大学, 医学部附属病院, 講師 (50397428)
吉原 雄二郎 浜松医科大学, 医学部, 研究員 (00529464)
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| Project Period (FY) |
2011-04-01 – 2014-03-31
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| Project Status |
Completed (Fiscal Year 2013)
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| Budget Amount *help |
¥19,240,000 (Direct Cost: ¥14,800,000、Indirect Cost: ¥4,440,000)
Fiscal Year 2013: ¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2012: ¥7,020,000 (Direct Cost: ¥5,400,000、Indirect Cost: ¥1,620,000)
Fiscal Year 2011: ¥7,410,000 (Direct Cost: ¥5,700,000、Indirect Cost: ¥1,710,000)
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| Keywords | 児童・思春期精神医学 / 自閉症 / CNV解析 / トリオサンプル / CNV |
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| Research Abstract |
Among the 203 trio autism families, 191 were simplex, while the remaining 12 were multiplex. The samplese were analyzed using Affymetrix Genome-Wide Human SNP Nsp/Sty 6.0 microarray. Among a total of 7305 CNVs detected in affected children after all QC corrections, 3728 were found to be affecting genes. 89.6% of these were confirmed to be inheited from parents. Among the remaining 378 CNVs, 17 novel/ultra-rare de novo events were identified.Novel deletions were observed in genes involved in neurodevelopmental pathways such as SHANK3 et al..
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