| Project/Area Number |
15K08330
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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 |
Human genetics
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| Research Institution | Shinshu University |
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Principal Investigator |
Wakui Keiko 信州大学, 学術研究院医学系, 講師 (50324249)
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| Co-Investigator(Kenkyū-buntansha) |
河村 理恵 信州大学, 医学部, 助教(特定雇用) (20735534)
高野 亨子 信州大学, 学術研究院医学系, 助教 (70392420)
福嶋 義光 信州大学, 医学部, 特任教授 (70273084)
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| Co-Investigator(Renkei-kenkyūsha) |
KOSHO Tomoki 信州大学, 医学部附属病院, 准教授 (90276311)
SAITOH Shinji 名古屋市立大学, 医学(系)研究科(研究院) (00281824)
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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 |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2016: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Keywords | １細胞解析 / 相同染色体 / RNA-FISH / エピジェネティクス / X染色体不活化 / 1細胞解析 / エピジェネティック |
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| Outline of Final Research Achievements |
Genetic diseases are usually caused by mutation of each responsible gene, but some genetic diseases are caused by epigenetic mechanism.
This research aimed at obtaining new knowledge of pathogenesis through single cell expression analysis using RNA-FISH method which allow distinguish the homologous chromosomes.
As one of the target diseases, we selected the structural X chromosome abnormalities in female. We succeeded in 3-color RNA-DNA FISH method using RNA probe for XIST gene, DNA probes for the reference region and for the target region mapped all on the X chromosome, which can detect X chromosome inactivation pattern and normal/abnormal X chromosome simultaneously in each individual nucleus. And the results of this study for the carrier females as the subjects confirmed the usefulness of this procedure, since the X chromosome inactivation pattern were consistent with the result using the another X chromosome inactivation analysis.
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