| Project/Area Number |
21591331
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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 |
Pediatrics
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| Research Institution | Ibaraki Prefectural University of Health Science |
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Principal Investigator |
NAKAYAMA Junko 茨城県立医療大学, 付属病院, 准教授 (30433155)
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|---|
| Co-Investigator(Kenkyū-buntansha) |
ARINAMI Tadao 筑波大学, 人間総合科学研究科, 教授 (10212648)
岩崎 信明 茨城県立医療大学, 保健医療学部, 教授 (70251006)
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| Project Period (FY) |
2009 – 2012
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| Project Status |
Completed (Fiscal Year 2012)
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| Budget Amount *help |
¥5,590,000 (Direct Cost: ¥4,300,000、Indirect Cost: ¥1,290,000)
Fiscal Year 2012: ¥520,000 (Direct Cost: ¥400,000、Indirect Cost: ¥120,000)
Fiscal Year 2011: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2010: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2009: ¥3,510,000 (Direct Cost: ¥2,700,000、Indirect Cost: ¥810,000)
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| Keywords | けいれん性疾患 / 熱性けいれん / 遺伝子 / オリゴヌクレオチドアレイ / CNV / ォリゴヌクレオチドアレイ |
|---|
| Research Abstract |
To perform an extensive search for genomic rearrangements, molecular karyotyping was carried out with high-resolution oligonucleotide array technologies in 40 patients with familial febrile seizures. It showed 151 copy number alterations, 134 deleted regions and 17 duplicated regions. Although most of them are registered copy number variants (CNVs), three unregistered deleted regions and four unregistered duplicated regions contains several genes. Of these, two unregistered duplicated regions, 8p13.3 and 5q14, have been reported as the febrile seizure loci (FEB1and FEB4). Further investigation is required to determine whether these duplicated regions are related to the febrile seizures.
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