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METHOD FOR ANALYZING PRENATAL GENETIC INFORMATION FROM BLOOD OR PLASMA OF PREGNANT WOMAN USING DIGITAL PCR

机译:数字PCR分析孕妇血液或血浆中的遗传信息的方法

摘要

The present invention provides a technique which performs digital PCR on a maternal blood or plasma sample, which is detected that fetus-derived genes are present, amplifies a control gene, which is present in a maternal gene set and a fetal gene set in common, and has no relation to gene number abnormalities and a target gene having a relation to the gene number abnormalities by using the digital PCR, and then analyzes the gene number abnormalities by comparing results of digital PCR quantification of the target gene and the control gene when a result of digital PCR quantification of the control gene satisfies the Poissons distribution, in other words, when the control gene copy number per a well is statistically close to 1.
机译:本发明提供了一种对母体血液或血浆样品进行数字PCR的技术,该技术可检测到存在胎儿衍生的基因,扩增存在于母体基因组和胎儿基因组中的对照基因,通过使用数字PCR,与基因数目异常无关,而与基因数目异常有关的靶基因,则通过比较目标基因和对照基因的数字PCR定量结果,分析基因数目异常。控制基因的数字PCR定量结果满足Poissons分布,换言之,当每孔的控制基因拷贝数在统计上接近1时。

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