Detection of intragenic deletions by array CGH analysis
Project/Area Number |
21590638
|
Research Category |
Grant-in-Aid for Scientific Research (C)
|
Allocation Type | Single-year Grants |
Section | 一般 |
Research Field |
Laboratory medicine
|
Research Institution | Keio University |
Principal Investigator |
|
Project Period (FY) |
2009 – 2011
|
Project Status |
Completed (Fiscal Year 2011)
|
Budget Amount *help |
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2011: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2010: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2009: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
|
Keywords | 遺伝子 / アレイ / 検査の感度 / 先天異常症候群 / 遺伝子診断 / マイクロアレイ / アレイCGH |
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.
|
Report
(4 results)
Research Products
(7 results)
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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
Related Report
Peer Reviewed
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[Journal Article] Ophthalmic features of CHARGE syndrome with CHD7 mutations. 158A(3) : 514-82012
Author(s)
Nishina S, Kosaki R, Yagihashi T, Azuma N, Okamoto N, Hatsukawa Y, Kurosawa K, Yamane T, Mizuno S, Tsuzuki K, Kosaki K
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Journal Title
American Journal of Medical Genetics
Volume: 158
Issue: 3
Pages: 514-518
DOI
Related Report
Peer Reviewed
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