2016 Fiscal Year Final Research Report
Establishment of comprehensive gene analysis of Noonan syndrome and related disorders
| Project/Area Number |
26461520
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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 |
Pediatrics
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| Research Institution | Tohoku University |
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Principal Investigator |
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| Research Collaborator |
Umeki Ikumi
|
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| Project Period (FY) |
2014-04-01 – 2017-03-31
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| Keywords | ヌーナン症候群 / コステロ症候群 / CFC症候群 / 遺伝子解析 / 次世代シークエンサー |
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| Outline of Final Research Achievements |
NGS enables comprehensive gene analysis of Noonan syndrome and related disorders. However, there are problems about cost and flexibility of target design. To solve these problems, we established a gene analysis system using multiplex PCR and NGS. We analyzed total 48 samples including positive controls. The results were acceptable, though minor modifications were needed.
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| Free Research Field |
分子遺伝学
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