| Project/Area Number |
16H06760
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| Research Category |
Grant-in-Aid for Research Activity Start-up
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| Allocation Type | Single-year Grants |
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| Research Field |
Otorhinolaryngology
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| Research Institution | The University of Tokyo |
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Principal Investigator |
Sakata Aki 東京大学, 医学部附属病院, 登録診療員 (80783860)
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| Co-Investigator(Renkei-kenkyūsha) |
YAMASOBA Tatsuya 東京大学, 医学部付属病院, 教授 (60251302)
KASHIO Akinori 東京大学, 医学部付属病院, 講師 (20451809)
ABURATANI Hiroyuki 東京大学, 先端科学技術研究センター, 教授 (10202657)
TATSUNO Kenji 東京大学, 先端科学技術研究センター, 特任研究員 (80775239)
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| Project Period (FY) |
2016-08-26 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
Fiscal Year 2017: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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| Keywords | 遺伝 / 難聴遺伝子 / 遺伝子 / 難聴 |
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| Outline of Final Research Achievements |
We performed target exon sequencing using a next generation sequencer about 19 hearing loss patients and 42 family members. The gene panel covered bout 18 genes and Usher syndrome genes, and Waardenburg syndrome genes. We used Sureselect and Ilumina Miseq. We assessed SNPs and indels using ANNOVAR software. We prioritized these by their minor allele frequency less than 3% using allele frenquency data from several public database including the 1000 Genomes Project and the NHLBI-6500 Exomes, DB exome data from Kyoto university, and in house variant database.
Pathogenic gene candidates identified by exome sequencing, inherited pattern of 3 genes were confirmed as 19 genes. Three cases of autosomal resessive genes CDH23、USH2A,TMPRSS, was recognized variations which were not reported before. The NGS analysis could identify the extensive gene variation not covered all in the existing genetic test.
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