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A METHOD FOR PRENATAL DIAGNOSIS USING DIGITAL PCR.

机译:一种利用数字PCR进行产前诊断的方法。

摘要

The present invention relates to a method for prenatal diagnosis using digital PCR, and more particularly to a method for providing information for diagnosis of chromosomal aneuploidy in a fetus, comprising: (a) extracting DNAs from pregnant woman's blood; (b) classifying the DNAs according to size to obtain DNAs having a size of 1,000 bp or less; (c) performing digital PCR using the obtained DNAs of step (b), for a control gene located on a chromosome not associated with chromosomal aneuploidy and a target gene located on a chromosome associated with chromosomal aneuploidy; (d) calculating a ratio of a quantitative digital PCR value of the target gene to a quantitative digital PCR value of the control gene; and (e) determining that when the ratio calculated in step (d) is 0.70-1.14, a chromosome number of the fetus is normal.
机译:本发明涉及一种使用数字PCR进行产前诊断的方法,更具体地说,涉及一种提供用于诊断胎儿染色体非整倍性的信息的方法,包括:(a)从孕妇血液中提取DNA; (b)根据大小对DNA进行分类,以获得大小为1000bp或更小的DNA; (c)使用步骤(b)中获得的DNA,对与染色体非整倍性不相关的染色体上的对照基因和与染色体非整倍性相关的染色体上的靶基因进行数字PCR。 (d)计算靶基因的定量数字PCR值与对照基因的定量数字PCR值的比; (e)确定步骤(d)中计算出的比例为0.70-1.14时,胎儿的染色体数正常。

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