| Project/Area Number |
15K15096
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Human genetics
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| Research Institution | National Center for Child Health and Development |
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Principal Investigator |
Kagami Masayo 国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, 室長 (70399484)
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| Co-Investigator(Kenkyū-buntansha) |
中林 一彦 国立研究開発法人国立成育医療研究センター, 周産期病態研究部, 室長 (10415557)
松原 圭子 国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, 研究員 (90542952)
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| Co-Investigator(Renkei-kenkyūsha) |
TAKADA SHUJI (20382856)
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2017: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2016: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2015: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Keywords | エピジェネティクス / インプリンティング / DNAメチル化 / MLID / インプリンティング異常症 / メチル化解析 / アレイ / 網羅的 / 網羅的メチル化解析 |
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| Outline of Final Research Achievements |
Patients with multiple imprinting disturbance (MLID) show abnormal methylation levels in the multiple differentially methylated regions (DMRs), however, the frequencies, onset mechanism, and clinical features of MLID remain to be clarified. We screened 1300 patients with imprinting disorders by methylation analysis using pyrosequencing and detected 38 patients with MLID. Furthermore, we examined methylation levels of 43 DMRs using high-density DNA methylation arrays in 5 patients with Kagami-Ogata syndrome caused by epimutation and 4 patients with Temple syndrome (TS14) caused by epimutation. We detected first TS14 patients with MLID.
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