| Project/Area Number |
20590989
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Neurology
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| Research Institution | The University of Tokyo |
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Principal Investigator |
GOTO Jun The University of Tokyo, 医学部附属病院, 講師 (10211252)
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| Co-Investigator(Renkei-kenkyūsha) |
TAKAHASHI Yuji 東京大学, 医学部附属病院, 助教 (00372392)
ICHIKAWA Yaeko 東京大学, 医学部附属病院, 助教 (90341081)
FUKUDA Yoko 東京大学, 医学部附属病院, 特任助教 (60396744)
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| Project Period (FY) |
2008 – 2010
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| Project Status |
Completed (Fiscal Year 2010)
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| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2010: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2009: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2008: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
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| Keywords | 連鎖解析 / 一塩基多型(SNP) / 遺伝性疾患 / 遺伝子同定 / SNP |
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| Research Abstract |
We have developed SNP HiTLink which can directly import SNP chip data to linkage analysis programs including MLINK, Superlink, Merlin and Allegro. SNP genotyping and linkage analysis can be completed minimally 4 days. Results of SNP linkage mapping are similar to those obtained by microsatellites markers and to those of radiation RH mapping. A novel mutation of FLVCR1 was identified in a Japanese family accompanying with posterior column ataxia with retinitis pigmentosa. Clinical implementation is also useful to improve genetic diagnosis.
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