Development of the epoch-making chromosome diagnosis algorithm for the abnormal pregnancies

• Project/Area Number: 24659742
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Obstetrics and gynecology
• Research Institution: National Research Institute for Child Health and Development
• Principal Investigator: HATA Kenichiro 独立行政法人国立成育医療研究センター, その他部局等, その他 (60360335)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Project Status: Completed (Fiscal Year 2014)
• Budget Amount: ¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000); Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000); Fiscal Year 2012: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
• Keywords: 一塩基多型 / 核型診断 / 染色体診断 / 流産

Outline of Final Research Achievements

When the karyotyping of products of conception (POC) is conducted by using conventional cytogenetic methods, problems often occur because of erroneous diagnosis due to maternal cell contamination or failure of cell culture. However, those problems can be solved if the analysis uses single nucleotide polymorphism data.
In this study, we developed a method which applies the advantageous features of karyotyping using the aforementioned information from single nucleotide polymorphisms in which data correction is performed by using the linear interpolation method on the basis of the results of single nucleotide polymorphism analyses. For the POCs whose karyotyping could not be achieved accurately due to maternal cell contamination, the same method was used for the estimation of the rate of contamination by maternal DNA and for the extraction of only data from the single nucleotide polymorphism of the POCs; and this allowed for successful determination of the latter's karyotype diagnosis.

Research Products

• [Journal Article] Compilation of copy number variants identified in phenotypically normal and parous Japanese women. (2014)
  • Author(s): 19.Migita O, Maehara K, Kamura H, Miyakoshi K, Tanaka M, Morokuma S, Fukushima K, Shimamoto T, Saito S, Sago H, Nishihama K, Abe K, Nakabayashi K, Umezawa A, Okamura K, Hata K
  • Journal Title: Journal of Human Genetics Volume: 59 Pages: 326-331
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Development of a Method To Measure DNA Methylation Levels by Using Methyl CpG-Binding Protein and Luciferase-Fused Zinc Finger Protein. (2012)
  • Author(s): Hiraoka D, Yoshida W, Abe K, Wakeda H, Hata K, Ikebukuro K.
  • Journal Title: Anal Chem. Volume: 84 Pages: 8259-8264
  • Peer Reviewed
• [Presentation] 胎児・胎盤発生異常のジェネティクスとエピジェネティクス (2014)
  • Author(s): 秦健一郎
  • Organizer: 北関東遺伝診療フォーラム
  • Place of Presentation: 大宮
  • Year and Date: 2014-11-27
  • Invited
• [Presentation] 次世代遺伝子解析技術を用いた生殖発生異常のゲノム研究 (2012)
  • Author(s): 秦健一郎
  • Organizer: 日本受精着床学会学術講演会
  • Place of Presentation: 東京
  • Invited