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Method for DNA detection and quality control in fetus chromosome aneuploid detection

A technology of aneuploidy and quality control method, applied in the field of non-invasive prenatal screening and detection, which can solve the problems affecting the success rate of detection, incomplete separation of plasma, and unclear standards.

Inactive Publication Date: 2018-10-12
CHANGSHA KINGMED MEDICAL DIAGNOSTICS INST
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Problems solved by technology

To solve a DNA detection and quality control method in the detection of fetal chromosomal aneuploidy, the cost is high, the process is unscientific, the standard is not clear, the practical operation effect is not good, the operation is difficult, it is difficult to copy the operation, and the sample collection process is not standard. Unqualified sample storage and quality control, easy to cause sample failure, insufficient sampling volume, incomplete plasma separation and other technical problems that affect subsequent testing and the success rate of subsequent links

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  • Method for DNA detection and quality control in fetus chromosome aneuploid detection
  • Method for DNA detection and quality control in fetus chromosome aneuploid detection

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Embodiment 1

[0081] A DNA detection and quality control method in the detection of fetal chromosomal aneuploidy, characterized in that it includes:

[0082] Step A: sample collection, preservation and quality control;

[0083] Step B: DNA extraction;

[0084] Step C: library construction;

[0085] Step D: library concentration determination and storage;

[0086] Step E: On-machine sequencing;

[0087] Step F: result analysis;

[0088] Wherein, the step A includes:

[0089] Sample collection: Blood collection tube 1 collects 5.0 mL of pregnant women’s peripheral blood. After the collection, gently invert the blood collection tube and place the blood collection tube in the refrigerator in time; blood collection tube 2 collects 10.0 mL of pregnant women’s peripheral blood. Preserve; pre-cool the low-speed centrifuge until the temperature is stable, put it into the blood collection tube for two minutes, absorb the supernatant plasma, transfer it to a 2.0mLEP tube placed on the ice box, an...

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Abstract

The invention discloses a method for DNA detection and quality control in fetus chromosome aneuploid detection. The method comprises the steps of 1 sample collecting, saving and quality control, 2 DNAextraction, 3 library construction, 4 library concentration measuring and saving, 5 upper computer sequencing and 6 result analysis. The method for DNA detection and quality control in fetus chromosome aneuploid detection is easy, convenient and flexible to implement, scientific in flow path, accurate in standard and good in practical operation effect. All the links are strict and clear in standard, efficient and strict, and then the trisomy 21 syndrome, the trisomy 18 syndrome and the trisomy 13 syndrome can be subjected to rapid antenatal auxiliary diagnosis.

Description

technical field [0001] The invention belongs to the field of non-invasive prenatal screening and detection, and specifically refers to a DNA detection and quality control method in the detection of fetal chromosome aneuploidy. Background technique [0002] The rapid acquisition of genetic information of living organisms is of great significance to the research of life sciences. The reliance of the first-generation sequencer on electrophoretic separation technology makes it difficult to further improve the analysis speed and parallelization degree, and it is also difficult to reduce the sequencing cost through miniaturization. After continuous technical development and improvement, at the beginning of the 21st century, the second-generation sequencing technology marked by Roche454 technology, Illumina's GenomeAnalyzer technology and ABI's Solid technology was born. Second-generation technology has greatly reduced the cost of sequencing, and has also greatly increased the spe...

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Application Information

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IPC IPC(8): C12Q1/6869C12Q1/6804C40B50/06
Inventor 杨瑶余艳
Owner CHANGSHA KINGMED MEDICAL DIAGNOSTICS INST
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