2017 Fiscal Year Final Research Report
Genetic analysis of elastofibroma
| Project/Area Number |
15K01621
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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 |
Sports science
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| Research Institution | Oita University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
関根 章博 千葉大学, 予防医学センター, 教授 (30425631)
島田 浩光 大分大学, 医学部, 助教 (70330826)
石川 一志 大分大学, 医学部, 助教 (80600452)
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Keywords | 弾性線維腫 / 家系解析 / 沖縄県 / 遺伝子 / 画像診断 |
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| Outline of Final Research Achievements |
Elastofibroma is a rare benign tumor, localized, in most cases, to the infrascapular region. Elastin-specific staining reveals multiple globular or bead-like structures in cross sections. Electron microscopy reveals abnormal flower-like aggregates of elastic fibers, suggesting that the structure and organization of the microfibrils are abnormal. The molecular mechanisms of this disease are not known. In 1982, Nagamine et al reported that a number of cases was found in families in Tonaki and Aguni Islands in Okinawa. We started the field work in both islands since 2014 to identify the related gene(s). In order to confirm the diagnosis, we interpreted radiographic images. We found 38 positive and 30 negative cases. Tentative correlation analysis, the possible gene locus was found on one chromosome, but p value was low. We correct more cases in the future to identify the invoving gene(s).
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| Free Research Field |
皮膚科学、分子生物学
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