| Project/Area Number |
21590362
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Human genetics
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| Research Institution | University of the Ryukyus |
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Principal Investigator |
YANAGI Kumiko 琉球大学, 大学院・医学研究科, 助教 (90294701)
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| Co-Investigator(Kenkyū-buntansha) |
KANAME Tadashi 琉球大学, 大学院・医学研究科, 准教授 (40264288)
NARITOMI Kennji 琉球大学, 大学院・医学研究科, 教授 (20101446)
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| Project Period (FY) |
2009 – 2011
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| Project Status |
Completed (Fiscal Year 2011)
|
| Budget Amount *help |
¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000)
Fiscal Year 2011: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2010: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2009: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
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| Keywords | 分子遺伝学 / PCR-高精度融解曲線分析法 / 遺伝子診断 / 自閉症スペクトラム |
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| Research Abstract |
We constructed a high-throughput screening system using PCR-high resolution melting(PCR-HRM) analysis which easily allow us to detect mutations or variations of genes associated with autism spectrum disorder(ASD). We searched the optimal condition for all exons of AUTSX1, AUTSX2 and AUTS9, and scanned the entire coding regions of the genes in genomic DNA obtained from 62 ASD patients, 200 healthy controls and 60 EBV transformed B cells. Nineteen novel mutations were identified in Japanese ASD patients.
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