Detection of Aneuploidy with Digital Polymerase Chain Reaction

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• 作者：H. Christina Fan ; Stephen R. Quake
• 刊名：Analytical Chemistry
• 出版年：2007
• 出版时间：October 1, 2007
• 年：2007
• 卷：79
• 期：19
• 页码：7576 - 7579
• 全文大小：223K
• 年卷期：v.79,no.19(October 1, 2007)
• ISSN：1520-6882

文摘

The widespread use of genetic testing in high-risk pregnancies has created strong interest in rapid and accuratemolecular diagnostics for common chromosomal aneuploidies. We show here that digital polymerase chainreaction (dPCR) can be used for accurate measurementof trisomy 21 (Down syndrome), the most commonhuman aneuploidy. dPCR is generally applicable to anyaneuploidy, does not depend on allelic distribution orgender, and is able to detect signals in the presence ofmosaics or contaminating maternal DNA.