| Project/Area Number |
25462637
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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 |
Otorhinolaryngology
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| Research Institution | Chiba University (2015)
Kyoto University (2013) |
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Principal Investigator |
Sekine Akihiro 千葉大学, 予防医学センター, 教授 (30425631)
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| Co-Investigator(Kenkyū-buntansha) |
OKANO Takayuki 京都大学, 医学部附属病院, 助教 (60642931)
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| Co-Investigator(Renkei-kenkyūsha) |
KITAJIRI Shinichiro 京都大学, 医学部附属病院, 助教 (00532970)
YAMAMOTO Norio 京都大学, 医学部附属病院, 助教 (70378644)
TAKEMURA Ryo 千葉大学, 医学部附属病院, 特任助教 (50747516)
KITAHARA Terue 千葉大学, 予防医学センター, 特任研究員 (70761162)
MASHIMO Yoichi 千葉大学, 大学院医学研究院, 技術職員 (90422253)
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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: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2014: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2013: ¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000)
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| Keywords | 遺伝性難聴 / パラメトリック連鎖解析 / 大家系 / 全ゲノム解析 / 原因未知 / 難聴 / 原因遺伝子 / ゲノム解析 / パラメトリック解析 |
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| Outline of Final Research Achievements |
To identify the causative genetic loci in a large family (affected:12, unaffected:24) with hereditary hearing loss, we performed a parametric linkage analysis using variations detected by whole genome sequencing (HiSeq) and genome wide association study (affected vs unaffected individuals) by human Omni2.5M+exon array. Highest LOD score (2.01~2.71) by parametric linkage mapping was observed a 79kb region in chr13p. Also, 79Mb (p value~1x10-6, odds ratio~14.4) in chr13p included the preceding 79kb was indicated the sole candidate region by genome wide association study. Therefore, sequencing of target 79kb region by PacBioRSII, and succeeded in narrowing the 4 loci included a causative locus exhibiting mutually high linkage disequilibrium.
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