Development of PCR-based whole-genome analysis method and the application for the prenatal diagnosis from maternal blood

基于PCR的全基因组分析方法的建立及其在母血产前诊断中的应用

• 批准号: 20591308
• 负责人: MATSUOKA Ryu
• 金额: $ 3万
• 依托单位: Showa University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2008
• 资助国家: 日本
• 起止时间: 2008 至 2010
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-20591308/
• 关键词: 母体血; 有核赤血球; 無侵襲; 出生前診断; ダウン症候群; 胎児遺伝子診断; 単一細胞; PCR; 全遺伝子増幅; DNA抽出; FISH; 遺伝子診断; real-time PCR

Non-invasive prenatal diagnosis through examination of intact fetal cells circulating within maternal blood can be used to diagnose a full range of genetic disorders. Since only a limited number of fetal cells circulate within maternal blood, procedures to enrich the cells and enable single cell analysis with high sensitivity are required. Recently, we have developed the separation methods, including a lectin-based method and autoimage analyzing, leading to the improved sensitivity of genetic analysis. We recently proved the accuracy of the prenatal diagnosis of trisomy-21 and -18 by the nucleated erythrocytes analysis in maternal blood. Thus, this progress has supported the possibility of non-invasive prenatal diagnosis of genetic disorders.

通过检查母体血液中循环的完整胎儿细胞进行的非侵入性产前诊断可用于诊断各种遗传疾病。由于只有有限数量的胎儿细胞在母体血液中循环，因此需要富集细胞并实现高灵敏度的单细胞分析的程序。最近，我们开发了分离方法，包括基于凝集素的方法和自动图像分析，从而提高了遗传分析的灵敏度。我们最近证实了通过母血有核红细胞分析产前诊断21和18三体的准确性。因此，这一进展支持了遗传疾病的非侵入性产前诊断的可能性。

项目成果

Recent Advances in Prenatal diagnosis (Special Invited Lecture)

产前诊断最新进展（特邀报告）

• 发表时间: 2010
• 作者: 木庭幸子;奥山隆平;Sekizawa A
• 通讯作者: Sekizawa A

FDD-MB (Fetal DNA Diagnosis from Maternal Blood) 2.0 System

FDD-MB（母血胎儿DNA诊断）2.0系统

• 发表时间: 2009
• 作者: Purwosunu Y;Takabayashi H;Kita M;Ikawa K;Sekizawa A;Chiba H;Kitagawa M
• 通讯作者: Kitagawa M

Accuracy of prenatal DNA diagnosis from NRBCs in maternal blood

母血中 NRBC 产前 DNA 诊断的准确性

• 发表时间: 2008
• 作者: Sekizawa A;Purwosunu Y;Chiba H;Okai T;Takabayashi H;Kita M;Kitagawa M
• 通讯作者: Kitagawa M

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Fetal DNA Diagnosis from Maternal Blood 2.0 System

母血胎儿DNA诊断2.0系统

• 发表时间: 2010
• 作者: Takabayashi H;Kita M;Purwosunu Y;Ikawa K;Sekizawa A;Chiba H;Kitagawa M
• 通讯作者: Kitagawa M