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Kit and device for detecting aneuploidy of chromosomes

An aneuploidy and chromosome technology, applied in the field of biomedicine, which can solve the problems of low error rate and wrong judgment.

Active Publication Date: 2015-07-22
ZHEJIANG ANNOROAD BIO TECH CO LTD +3
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0005] Although the above method has achieved an extremely low error rate, there is still a risk of misjudgment

Method used

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  • Kit and device for detecting aneuploidy of chromosomes
  • Kit and device for detecting aneuploidy of chromosomes
  • Kit and device for detecting aneuploidy of chromosomes

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0080] A device for detecting chromosomal aneuploidy, comprising:

[0081] The detection module is used to perform high-throughput sequencing on the samples to be tested from the peripheral blood free DNA of 100 pregnant women, and obtain the sequencing data of 100 pregnant women including all chromosomes; including the instrument for sequencing the DNA in maternal plasma samples , can include Illumina's cBot instrument and Illumina's Genome Analyzer, HiSeq2000 sequencer or HiSeq2500 sequencer or ABI's SOLiD series sequencer; when extracting free DNA from the peripheral blood of pregnant women, the kit QIAamp DNA Blood Mini Kit (Qiagen, Germany, catlog#51106) to extract the free DNA in the plasma, use the library construction kit of Illmumina Company to construct the library of the free plasma DNA, and perform quality control detection on the library; use Illumina2500 to carry out on-machine sequencing of the library qualified for quality control, and the sequence is Single-en...

Embodiment 2

[0090] A device for detecting chromosomal aneuploidy, comprising:

[0091]The detection module is used for high-throughput sequencing of free DNA samples from the peripheral blood of 6615 pregnant women, and the sequencing data of 100 pregnant women including all chromosomes; including the instrument for sequencing the DNA in maternal plasma samples , can include Illumina's cBot instrument and Illumina's Genome Analyzer, HiSeq2000 sequencer or HiSeq2500 sequencer or ABI's SOLiD series sequencer; when extracting free DNA from the peripheral blood of pregnant women, the kit QIAamp DNA Blood Mini Kit (Qiagen, Germany, catlog#51106) to extract the free DNA in the plasma, use the library construction kit of Illmumina Company to construct the library of the free plasma DNA, and perform quality control detection on the library; use Illumina2500 to carry out on-machine sequencing of the library qualified for quality control, and the sequence is Single-end sequencing to obtain the sequ...

Embodiment 3

[0115] A kit for detecting chromosomal aneuploidy, comprising:

[0116] Detection reagents and detection equipment: used for high-throughput sequencing of peripheral blood free DNA of pregnant women to obtain sequencing data including all chromosomes, detection reagents can include DNA extraction, separation, detection, library construction and other steps used Various reagents or chemicals; detection equipment can include 1.5ml EP tubes, PCR tubes, pipette guns, 96-well plates used on the machine, and high-throughput sequencers used on the machine;

[0117] Chromosomal aneuploidy preliminary judgment equipment: used to calculate all the chromosomes in the sequencing data in the form of cutting into windows to obtain the Z value of each chromosome, and preliminarily judge whether there is aneuploidy in each chromosome according to the Z value of each chromosome sex;

[0118] The first calculation device: used to calculate the first concentration value of fetal DNA in the samp...

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Abstract

The invention discloses a kit and device for detecting aneuploidy of chromosomes. The device comprises the following modules: a detection module which is used for carrying out high-flux sequencing on a sample to be detected so as to obtain sequenced data; a first judgment module which is used for calculating the chromosomes in the form of cut windows so as to obtain a Z value of each chromosome and preliminarily judging whether each chromosome has aneuploidy or not according to the Z value of each chromosome; a first calculation module which is used for calculating to obtain a first concentration value of fetus DNA (Deoxyribonucleic Acid) in the sample to be detected; a second calculation module which is used for calculating according to an X chromosome or a methylation method so as to obtain a second concentration value of the fetus DNA in the sample to be detected; a second judgment module which is used for judging whether the first concentration value of the fetus DNA in the sample to be detected and the second concentration value of the fetus DNA in the sample to be detected are fit with a curve (y=x) or not; a first determination module which is used for determining that the copy number of each chromosome has aneuploidy. The detecting device has the advantage that the accuracy of detecting the aneuploidy of the chromosomes is higher.

Description

technical field [0001] The invention relates to the field of biomedicine, in particular to a kit and a device for detecting chromosomal aneuploidy. Background technique [0002] It has been nearly 20 years since Lo found cell-free fetal DNA (cff-DNA) in 1997, and it was this discovery that provided the possibility for many non-invasive prenatal testing methods (NIPT). The non-invasive prenatal detection method mainly has the following two advantages: First, NIPT does not need to bear any risk of miscarriage, while clinical karyotype analysis through invasive methods such as amniocentesis and umbilical puncture will bring about 1 / 2 200% of the risk of miscarriage, and some studies have shown that premature umbilical puncture may also cause fetal position tilt; first aspect: NIPT can be detected as early as the 8th week of gestation, and the risk judgment can be given earlier, reducing the risk of induction of labor for pregnant women. risks of. [0003] It is these advantag...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68
CPCC12Q1/6869C12Q1/6883
Inventor 陈重建梁峻彬玄兆伶李大为
Owner ZHEJIANG ANNOROAD BIO TECH CO LTD
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