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: KOSAKI Kenjiro 慶應義塾大学, 医学部, 教授 (30234743)
• Project Period (FY): 2009 – 2011
• Project Status: Completed (Fiscal Year 2011)
• Budget Amount: ¥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.

Research Products

• [Journal Article] Hydrocephalus with Hirschsprung disease : Severe end of X-linked hydrocephalus spectrum (2012)
  • Author(s): Takenouchi T, Nakazawa M, Kanemura Y, Shimozato S, Yamasaki M, Takahashi T, Kosaki K.
  • Journal Title: American Journal of Medical Genetics Volume: 158巻 Pages: 812-815
  • Peer Reviewed
• [Journal Article] Ophthalmic features of CHARGE syndrome with CHD7 mutations (2012)
  • 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
• [Journal Article] Hydrocephalus with Hirschsprung disease : Severe end of X-linked hydrocephalus spectrum (2012)
  • Author(s): Takenouchi T, Nakazawa M, Kanemura Y, Shimozato S, Yamasaki M, Takahashi T, Kosaki K
  • Journal Title: American Journal of Medical Genetics Volume: 158 Issue: 4 Pages: 812-815
  • DOI: 10.1002/ajmg.a.35245
  • Peer Reviewed
• [Journal Article] Ophthalmic features of CHARGE syndrome with CHD7 mutations. 158A(3) : 514-8 (2012)
  • Author(s): Nishina S, Kosaki R, Yagihashi T, Azuma N, Okamoto N, Hatsukawa Y, Kurosawa K, Yamane T, Mizuno S, Tsuzuki K, Kosaki K
  • Journal Title: American Journal of Medical Genetics Volume: 158 Issue: 3 Pages: 514-518
  • DOI: 10.1002/ajmg.a.34400
  • Peer Reviewed
• [Journal Article] Role of rare cases in deciphering the mechanisms of congenital anomalies : CHARGE syndrome research. Kosaki K. (2011)
  • Author(s): Kenjiro Kosaki
  • Journal Title: Congenital Anomalies Volume: 51 Pages: 12-15
  • Peer Reviewed
• [Presentation] 診療利用の段階を迎えたアレイCGH :遺伝相談における活用のポイント (2011)
  • Author(s): 小崎健次郎
  • Organizer: 日本人類遺伝学会第56回大会
  • Place of Presentation: 幕張メッセ国際会議場
  • Year and Date: 2011-11-12
• [Presentation] 診療利用の段階を迎えたアレイCGH:遺伝相談における活用のポイント (2011)
  • Author(s): 小崎健次郎
  • Organizer: 日本人類遺伝学会日本人類遺伝学会第56回大会
  • Place of Presentation: 幕張メッセ国際会議場
  • Year and Date: 2011-11-12