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Prenatal non-invasive fetal chromosome detection system based on deoxyribonucleic acid (DNA) fragment enrichment and sequencing technology

A DNA sequence and chromosome technology, applied in the field of chromosomal abnormality detection system, can solve the problems of fetal loss, inability to accurately detect chromosomal abnormalities, and low coverage depth, and achieve the effect of high accuracy

Active Publication Date: 2019-02-12
苏州首度基因科技有限责任公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0005] The incidence of 21, 13, and 18 chromosome aneuploid fetuses is about 1 / 500. Children carrying these diseases will bring a heavy burden to the family and society in the future. The options for prenatal detection of chromosomal abnormalities are mainly limited to invasive methods , these methods carry the risk of fetal loss
However, the application discloses that prenatal genotyping is mainly used to detect whether the fetus has inherited the mother's X-linked mutation. During the entire detection process, the selection of DNA fragments is random and the coverage depth is low. For a specific region on the chromosome, There is no guarantee that a DNA fragment will be detected and there will be a sufficient number for subsequent analysis, so this method cannot accurately detect small fragments of chromosomal abnormalities

Method used

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  • Prenatal non-invasive fetal chromosome detection system based on deoxyribonucleic acid (DNA) fragment enrichment and sequencing technology

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0078] Example 1 A method for detecting prenatal fetal chromosomal abnormalities based on specific enrichment of DNA fragments, the method comprising:

[0079] (1) Obtain a peripheral blood sample from a pregnant woman, and separate the plasma free DNA in the sample;

[0080] (2) Use the DNA probes or primers of all the exons of the human genome to perform probe hybridization capture enrichment on the plasma free DNA obtained in step (1), and enrich the DNA fragments of the mother and fetus at the same time;

[0081] (3) Sequence the DNA fragments enriched in step (2), with an average sequencing depth greater than 100X, that is, more than 100 DNA fragments are covered on average on the genome sequence positions to be enriched;

[0082] (4) According to the sequencing results obtained in step (3), identify the position of each DNA sequence obtained by sequencing on the human reference genome, and for each target enrichment region on the human reference genome, the DNA sequence ...

Embodiment 2

[0087] Example 2 A prenatal non-invasive fetal chromosome detection system based on DNA fragment-specific enrichment and second-generation sequencing technology, including four modules:

[0088] Module 1, obtaining peripheral blood samples from pregnant women, separating and extracting plasma free DNA in the samples, this module is a set of DNA extraction devices;

[0089] Module 2, using DNA probes or primers at specific positions on the human genome to enrich the plasma cell-free DNA obtained in module 1 to obtain DNA fragments, this module is a set of DNA enrichment devices;

[0090] Module 3: Sequence and detect the DNA fragments enriched in Module 2 to obtain the detected DNA sequence. This module is a second-generation DNA sequencer;

[0091] Module 4, data processing of the DNA sequence detected by module 3, which includes a computer and 9 calculation programs:

[0092] Program 1, this program is a sequence positioning program, which locates the sequence on the long se...

Embodiment 3

[0101] Example 3 A method for detecting prenatal fetal chromosomal abnormalities based on specific enrichment of DNA fragments, the method comprising:

[0102] (1) Obtain the peripheral blood sample of the pregnant woman, use the DNA extraction device in module 1 to separate and extract the plasma free DNA in the peripheral blood sample, and obtain the plasma free DNA;

[0103] (2) using the DNA enrichment device in module two and the DNA probe or primer on the human genome to enrich the plasma free DNA obtained in step (1) to obtain DNA fragments;

[0104] (3) Use the second-generation DNA sequencer in module three to sequence the DNA fragments obtained in step (2), to obtain a detected DNA sequence;

[0105] (4) Use computer and 9 programs to carry out data processing to the detected DNA sequence obtained in step (3):

[0106] Program 1, this program is a sequence positioning program, which locates the detected DNA sequence obtained in module 3 on the human genome, and the ...

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Abstract

The invention discloses a method for detecting prenatal fetal chromosome abnormality based on deoxyribonucleic acid (DNA) fragment specific enrichment. The method obtains free DNA by obtaining peripheral blood of a pregnant woman and using a DNA enrichment technique; a probe hybridization capture enrichment method is used in a DNA enrichment operation; the enrichment method simultaneously enrichesspecific fragments of a mother and a fetus without needing individual enrichment of fetal DNA. The detection method not only realizes the detection of the whole chromosome content of the fetus, but also realizes the detection of fetal local chromosome content. The method is high in accuracy when being applied to the detection of the fetal chromosome abnormality by means of plasma free DNA of thepregnant woman.

Description

technical field [0001] The present invention relates to a chromosomal abnormality detection system, specifically, the present invention relates to a prenatal non-invasive fetal chromosome detection system based on specific enrichment of DNA fragments and second-generation sequencing technology. Background technique [0002] Among human genetic diseases, chromosomal diseases are the most common genetic diseases in humans. At present, there are more than 300 diseases caused by abnormal chromosomes. The chromosomes of these patients all have a certain number of abnormalities or structural abnormalities. For genetic diseases caused by chromosomal variation, there is often no effective treatment. Therefore, people are gradually paying more attention to whether newborn fetuses suffer from congenital genetic diseases due to chromosomal variation. With the discovery of cell-free fetal DNA in the peripheral blood of pregnant women, non-invasive prenatal fetal DNA detection technology...

Claims

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Application Information

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IPC IPC(8): C12Q1/6858
Inventor 王海龙唐元华
Owner 苏州首度基因科技有限责任公司
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