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Determination method of fetal DNA content in maternal plasma, based on single-nucleotide polymorphic loci

A technology of single nucleotide polymorphism and polymorphic sites, which is applied to the determination of fetal DNA content. The application of this determination method, in the field of prenatal detection, can solve the problems of false negatives and low fetal free DNA content, and achieve The effect of high accuracy, high accuracy and simple operation method

Active Publication Date: 2013-07-24
SUZHOU BASECARE MEDICAL DEVICE CO LTD
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Problems solved by technology

[0004] However, since the content of fetal cell-free DNA in maternal plasma only accounts for 5%-30% of the total, it is in a background of high maternal DNA, which makes us often in the process of non-invasive prenatal diagnosis due to fetal cell-free DNA False negative results due to low content
In order to distinguish from the cell-free DNA from the mother, the currently selected fetal cell-free DNA markers are mainly from Y chromosome genetic loci, which limits the detection of fetal cell-free DNA to pregnant women with male fetuses

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  • Determination method of fetal DNA content in maternal plasma, based on single-nucleotide polymorphic loci
  • Determination method of fetal DNA content in maternal plasma, based on single-nucleotide polymorphic loci
  • Determination method of fetal DNA content in maternal plasma, based on single-nucleotide polymorphic loci

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Embodiment 1

[0054] The method for measuring fetal DNA content in maternal plasma based on single nucleotide polymorphism site comprises the following steps:

[0055] Step 1, screening of single nucleotide polymorphism sites: Preliminary screening of single nucleotide polymorphic site databases (dbSNP) of the National Center for Biotechnology Information (NCBI) that meet the following conditions Acid polymorphic sites:

[0056] (1) Minor allele frequency (MAF) between 0.4-0.5;

[0057](2) The length of the DNA fragment containing the polymorphic site is 50-70bp;

[0058] (3) There is no single nucleotide polymorphism site between 1-60 bp upstream and downstream of the site;

[0059] (4) The 50-70bp DNA fragment containing this site is not within the range of copy number variation in the genomic variation database;

[0060] (5) The segment where the site is located is specific within the human genome, ensuring that the segment is unique on the human genome;

[0061] (6) The 50-70bp DNA ...

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Abstract

The invention provides a determination method of fetal DNA content in maternal plasma, wherein the method is based on single-nucleotide polymorphic loci. The method comprises the steps such as single-nucleotide polymorphic loci screening, plasma locus DNA extraction, PCR amplification reaction, fetal DNA amount calculation, and the like. The operation method of the method is simple. Amplification based on single-nucleotide polymorphic loci is adopted, such that the difficulty of determination of fetal DNA content in plasma of pregnant women with female fetus due to the application of Y chromosome genetic locus marker is avoided. The method is widely applied, and has high accuracy.

Description

technical field [0001] The invention belongs to the field of biotechnology, and relates to a method for measuring fetal DNA content in plasma of pregnant women based on single nucleotide polymorphism sites, and also relates to the application of the method, such as prenatal detection. Background technique [0002] At present, prenatal testing has attracted more and more people's attention, and prenatal testing is one of the effective measures to reduce birth defects. However, traditional invasive diagnostic techniques pose certain risks to both mother and fetus, thus limiting their application in clinical practice. [0003] In recent years, non-invasive prenatal diagnosis has received more and more attention, and the discovery of fetal cell-free DNA in maternal plasma has undoubtedly opened up a new way for non-invasive prenatal diagnosis. Therefore, there are more and more researches on cell-free DNA in pregnant women's plasma, and many potential clinical applications have...

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Application Information

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IPC IPC(8): C12Q1/68
Inventor 梁波孔令印
Owner SUZHOU BASECARE MEDICAL DEVICE CO LTD
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