| Project/Area Number |
22249057
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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 |
Otorhinolaryngology
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| Research Institution | Shinshu University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
KUMAKAWA Kozo (財)冲中記念成人病研究所, 虎の門病院, 研究員 (40142252)
SATO Hiroaki 岩手医科大学, 医学部, 教授 (40215827)
TONO Tetsuya 宮崎大学, 宮崎大学, 教授 (80145424)
FURUYA Nobuhiko 群馬大学, 医学部, 教授 (80107606)
NAGAI Kyoko 群馬大学, 医学部, 助教 (50302469)
TAKUMI Yutaka 信州大学, 医学部, 准教授 (70312501)
MOTEKI Hideaki 信州大学, 医学部, 助教 (60422698)
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| Co-Investigator(Renkei-kenkyūsha) |
MIYAKAWA Maiko 信州大学, 医学部附属病院, 助教(特定雇用) (60467165)
NAITO Takehiko 信州大学, 医学部附属病院, 助教(特定雇用) (50467164)
NISHIO Shinya 信州大学, 医学部, 助教(特定雇用) (70467166)
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| Project Period (FY) |
2010 – 2012
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| Project Status |
Completed (Fiscal Year 2012)
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| Budget Amount *help |
¥48,100,000 (Direct Cost: ¥37,000,000、Indirect Cost: ¥11,100,000)
Fiscal Year 2012: ¥10,140,000 (Direct Cost: ¥7,800,000、Indirect Cost: ¥2,340,000)
Fiscal Year 2011: ¥16,900,000 (Direct Cost: ¥13,000,000、Indirect Cost: ¥3,900,000)
Fiscal Year 2010: ¥21,060,000 (Direct Cost: ¥16,200,000、Indirect Cost: ¥4,860,000)
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| Keywords | 耳科学 / 次世代シークエンサー / 遺伝子 / 難聴 / 内耳 / 感音難聴 / 細胞外マトリソクス |
|---|
| Research Abstract |
Target exon resequencing using Massively Parallel DNA Sequencing (MPS) is a new powerful strategy to discover causative genes in rare Mendelian disorders such as deafness. We attempted to identify genomic variations responsible for deafness by massive sequencing of the exons of the 112 target candidate genes. By the analysis of 216 (120 early-onset and 96 late-detected) randomly selected Japanese deafness patients, who had already been evaluated for common genes/mutations, we efficiently identified causative mutations and/or mutation candidates in 51 genes that could be used to initiate searching for responsible genes. Approximately 63.4% (137/216) of the patients had at least one mutation.
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