Application of MDPCR (multiple digital PCR (polymerase chain reaction)) technology to chromosome aneuploidy screening

A technology of aneuploidy and chromosome, applied in the field of biomedicine, can solve the problems of long detection time, consumption of reagents and consumables, and high price

Inactive Publication Date: 2015-08-19
NANJING JENOMED BIOTECH CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, the commonly used next-generation DNA sequencing technology takes a long time to detect. It needs to analyze a large number of DNA sequences with complex instruments and bioinformatics software. The test results can be obtained in 1-2 weeks, and it consumes a lot of reagents and consumables, which is expensive.

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  • Application of MDPCR (multiple digital PCR (polymerase chain reaction)) technology to chromosome aneuploidy screening
  • Application of MDPCR (multiple digital PCR (polymerase chain reaction)) technology to chromosome aneuploidy screening
  • Application of MDPCR (multiple digital PCR (polymerase chain reaction)) technology to chromosome aneuploidy screening

Examples

Experimental program
Comparison scheme
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Embodiment 1

[0144] Example 1. Application of MDPCR technology to detect trisomy 21

[0145] (1) Take 5ml of peripheral blood samples from pregnant women;

[0146] (2) separating and removing cells from the peripheral blood sample, and digesting serum or plasma proteins from the sample from which cells have been removed, enriching DNA, and obtaining a DNA sample;

[0147] (3) Digested with TaqI to fragment the DNA;

[0148] (4) Divide the digested DNA samples into the control group and the experimental group, and use multiple digital PCR (QuantStudio 3D dPCR) technology to detect trisomy 21 on the Pro-Flex PCR system (PCR reaction conditions: 95°C for 10 minutes; 60°C 2 minutes at 98°C for 30 seconds, repeated 44 times; 2 minutes at 60°C).

[0149] (5) Mix the normal genomic DNA with the genomic DNA of the trisomy 21 cell line or the genomic DNA of the trisomy 18 cell line at a ratio of 10% and 5%, respectively, and first perform Taq digestion to fragment the genomic DNA mixture, and the...

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Abstract

The invention provides application of an MDPCR (multiple digital PCR (polymerase chain reaction)) technology to chromosome aneuploidy screening. Concretely, the invention discloses a method for performing NIPS (non-invas ive prenatal screening) including Down's syndrome, Edward's syndrome, Patau syndrome and other chromosome abnormality diseases on pregnant women by the MDPCR technology. The method has the advantages that early, safe, non-invas, accurate and fast effects are achieved, the method is suitable for large-scale detection and clinic application, and the like; intrauterine infection, abortion and death in the pregnancy middle and later periods of the pregnant women can be avoided; the goals of bearing and rearing better children are achieved.

Description

technical field [0001] The invention belongs to the field of biomedical technology, and in particular relates to the non-invasive prenatal screening of normal pregnant women by using multiplex digital PCR (Multiplex digital PCR, MDPCR) technology which is early, safe, non-invasive, accurate, fast and suitable for large-scale detection and clinical application (Non-invasive prenatal screening, NIPS) includes screening methods for Down syndrome, Edwards syndrome, Patau syndrome and other polyploidy chromosome diseases. Background technique [0002] China is a country with a large population, and huge population pressure will restrict social development. Therefore, good prenatal and postnatal care can not only improve the quality of the population, but also restrict the development of the population, which will play an important role in the survival and development of the entire nation in the future. Preventive eugenics mainly studies how to reduce the gene frequency of unfavor...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C12N15/11
CPCC12Q1/6851C12Q2531/113C12Q2537/143C12Q2545/113
Inventor 黄跃进季红峰魏艳
Owner NANJING JENOMED BIOTECH CO LTD
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