| Project/Area Number |
10041197
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| Research Category |
Grant-in-Aid for Scientific Research (A).
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Human genetics
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| Research Institution | Kobe University |
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Principal Investigator |
MATSUO Masafumi Kobe University, School of Medicine, Professor, 医学部, 教授 (10157266)
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| Co-Investigator(Kenkyū-buntansha) |
ISHIDA Takafuni Tokyo University, Associate Professor, 大学院・理学系研究科, 助教授 (20184533)
HUKUSHIMA Yoshimitu Shinshu University, Professor, 医学部, 教授 (70273084)
NIIKAWA Norio Nagasaki University, Professor, 医学部, 教授 (00111170)
NISHIYAMA Kaoru Kobe University, School of Medicine, Professor, 医学部, 教授 (00150061)
SHIRAKAWA Taku Kobe University, School of Medicine, Associate Professor, 医学部, 助教授 (30171044)
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| Project Period (FY) |
1998 – 1999
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| Project Status |
Completed (Fiscal Year 1999)
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| Budget Amount *help |
¥8,500,000 (Direct Cost: ¥8,500,000)
Fiscal Year 1999: ¥3,900,000 (Direct Cost: ¥3,900,000)
Fiscal Year 1998: ¥4,600,000 (Direct Cost: ¥4,600,000)
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| Keywords | bone disease / linkage analysis / mesomelic dysplasia / Thailand / クローニング / 責任遺伝子 / タイ |
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| Research Abstract |
Dr.Kantaputra in Chinag Mai, Thailand, identified on big family showing a new type of mesomelic dysplasia. In this study we tried to clone the responsible for this type of mesomelic displasia. Out of 15 patients in this family, 9 volunteered to give blood sample for DNA analysis and 13 normal also did. Linkage study by analyzing microsatellite on the whole genome localized the loci on 2q24-32. Candidate gene analysis is now undergoing to identify mutation on the gene.
In addition we are currently negotiating to do linkage analysis on other bone diseases.
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