2011 Fiscal Year Final Research Report
Detection of intragenic deletions by array CGH analysis
| Project/Area Number |
21590638
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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 |
Laboratory medicine
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| Research Institution | Keio University |
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Principal Investigator |
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| Project Period (FY) |
2009 – 2011
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| Keywords | 遺伝子 / アレイ / 検査の感度 / 先天異常症候群 |
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| Research Abstract |
Currently, PCR-sequencing is utilized for clinical genetic testing of congenital malformation syndromes. However, PCR-sequencing is unable to detect deletion or duplication spanning multiple exons. In the present study, array CGH method was applied successfully to detect deletion spanning multiple exons. The present method will complement widely used genetic testing based on Sanger sequencing or next generation sequencing.
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[Journal Article] Ophthalmic features of CHARGE syndrome with CHD7 mutations2012
Author(s)
Nishina S, Kosaki R, Yagihashi T, Azuma N, Okamoto N, Hatsukawa Y, Kurosawa K, Yamane T, Mizuno S, Tsuzuki K, Kosaki K.
Volume
158巻
Pages
514-518
Peer Reviewed
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