| Project/Area Number |
25460686
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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 |
Laboratory medicine
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| Research Institution | Yamaguchi University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
TANAKA Tatehiko 山口大学, 大学院医学系研究科, 准教授 (20144925)
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| Research Collaborator |
HATTORI Yukio
NITTA Takenori
SHIMIZU Nobuhiro
Mella Ferania
Chris Adhiyanto
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| Project Period (FY) |
2013-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2015: ¥390,000 (Direct Cost: ¥300,000、Indirect Cost: ¥90,000)
Fiscal Year 2014: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Fiscal Year 2013: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
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| Keywords | 赤血球膜タンパク異常症 / 次世代シーケンサー / 球状赤血球症 / アンキリン / スペクトリン / Ion PGM / 遺伝子解析 / 赤血球膜タンパク / 遺伝子異常 / 網羅的解析 |
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| Outline of Final Research Achievements |
Genetic analysis of red blood cell (RBC) membrane protein disorders were carried out using next generation sequencing. Solid5500 gave many polymorphisms and mutations, while determination of disease-related genes or a large deletion was difficult. Using Ion PGM twenty kinds of gene of RBC membrane protein were analyzed for 6 patients, and a novel ankyrin gene mutation was found in four. One of them also had an α-spectrin mutation, which may have deteriorated the clinical manifestation. Other two are under search for gene deletion. On genetic analysis of compound heterozygote or gene deletion, like RBC membrane protein disorders, Ion PGM that focuses on the related gene is effective.
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