| Project/Area Number |
18K15690
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| Research Category |
Grant-in-Aid for Early-Career Scientists
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| Allocation Type | Multi-year Fund |
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| Review Section |
Basic Section 52050:Embryonic medicine and pediatrics-related
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| Research Institution | Fujita Health University |
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Principal Investigator |
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| Project Period (FY) |
2018-04-01 – 2021-03-31
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| Project Status |
Completed (Fiscal Year 2020)
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| Budget Amount *help |
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2020: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2019: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2018: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | NIPT / cell-free DNA(cfDNA) / 無侵襲的出生前遺伝学的検査 / cell-free DNA / 出生前診断 / メンデル遺伝性疾患 |
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| Outline of Final Research Achievements |
Currently, the application of NIPT to Mendelian disorders has hardly progressed. It is a assumed that the main cause is that it is not possible to distinguish between maternal and fetal genomic DNA with high accuracy. In this study, we aim to develop a method for distinguishing genomic DNA derived from mothers and fetuses with high accuracy, and to establish a noninvasive prenatal diagnostic method that can be clinically applied to couples who carry severe Mendel hereditary diseases. We have established a new method for confirming the presence of fetal-derived DNA in maternal cfDNA by using the method of performing SNP analysis with a next-generation sequencer after performing multiplex PCR on multiple SNP regions. The establishment of this system is expected to be clinically applied to couples who are carriers of serious Mendelian disorders in the future.
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| Academic Significance and Societal Importance of the Research Achievements |
出生前診断において、無侵襲的出生前遺伝学的検査(NIPT)が注目されている 。NIPTとは、母体血漿中に含まれている僅かな胎児由来のcell-free DNA(cfDNA) を使用して遺伝学的検査を行う方法であり、日本国内では、21番染色体トリソミーなどの染色体異数性の診断のみが臨床応用されている。現在NIPTによる出生前診断は急速に全世界に広がっているが、一方でメンデル遺伝性疾患を対象にしたNIPTは未だ研究段階で実用に至っていない。本研究は、これまで基礎研究レベルであったNIPTのさらなる展開が実現し、社会に大きく貢献されることが期待される新しい研究内容といえる。
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