数字聚合酶链反应
非整倍体
聚合酶链反应
三体
化学
聚合酶
DNA
遗传学
染色体
生物
基因
生物化学
作者
Hongxin Fan,Stephen R. Quake
摘要
The widespread use of genetic testing in high-risk pregnancies has created strong interest in rapid and accurate molecular diagnostics for common chromosomal aneuploidies. We show here that digital polymerase chain reaction (dPCR) can be used for accurate measurement of trisomy 21 (Down syndrome), the most common human aneuploidy. dPCR is generally applicable to any aneuploidy, does not depend on allelic distribution or gender, and is able to detect signals in the presence of mosaics or contaminating maternal DNA.
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