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Kit for non-invasively detecting whether fetal chromosome to be tested is aneuploid and special probe set thereof

An aneuploidy and chromosome technology, applied in the medical field, can solve the problems of complex data analysis, long cycle and high cost of whole genome sequencing

Active Publication Date: 2019-04-02
北京迈基诺基因科技股份有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

There are problems such as high cost, complex data analysis, and long cycle for direct whole genome sequencing

Method used

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  • Kit for non-invasively detecting whether fetal chromosome to be tested is aneuploid and special probe set thereof
  • Kit for non-invasively detecting whether fetal chromosome to be tested is aneuploid and special probe set thereof
  • Kit for non-invasively detecting whether fetal chromosome to be tested is aneuploid and special probe set thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0167] Example 1. Preparation of a kit for non-invasive detection of whether the fetal chromosome to be tested is aneuploid

[0168] 1. Preparation of probe set

[0169] 1. According to the specific region of human chromosome 13, the specific region of human chromosome 18, the specific region of human chromosome 21, the specific region of human chromosome X and the specific region of human chromosome Y, design and synthesize 500 probe. Each probe consists of 108 nucleotides, including DNA fragment 1, DNA fragment 2 and DNA fragment 3 from the 5' end to the 3' end. The nucleotide sequence of DNA fragment 1 is 5'-GACTACATGGGACAT-3'. The nucleotide sequence of DNA fragment 3 is 5'-GGAACCTACGACGTA-3'. Both DNA fragments 2 consist of 78 nucleotides. The DNA fragment 2 is a specific region of human chromosome 13, a specific region of human chromosome 18, a specific region of human chromosome 21, a specific region of human chromosome X or a part of a specific region of human chro...

Embodiment 2

[0182]Example 2, the establishment of a method for non-invasive prenatal detection of whether the fetus to be tested is suffering from chromosomal aneuploidy using the kit prepared in Example 1

[0183] After a lot of experiments, the inventors of the present invention have established a method for non-invasive prenatal detection of whether the fetus to be tested is suffering from chromosomal aneuploidy using the kit prepared in Example 1. Specific steps are as follows:

[0184] 1. Extraction of cell-free DNA from plasma of pregnant women to be tested

[0185] 1. Use EDTA anticoagulant tubes to collect 10 mL of peripheral blood from pregnant women to be tested, centrifuge at 1600 g at 4°C for 15 min, and collect supernatant 1 (placed in a low-absorption centrifuge tube).

[0186] 2. After completing step 1, take the supernatant 1, centrifuge at 12,000 rpm for 5 minutes, and collect the supernatant 2 (placed in a low-absorption centrifuge tube). Supernatant 2 is plasma.

[0...

Embodiment 3

[0280] Example 3. Using the kit prepared in Example 1 for non-invasive prenatal detection of whether the fetus to be tested suffers from chromosomal aneuploidy

[0281] The samples to be tested were peripheral blood samples of 1 high-risk pregnant woman with trisomy 13 (numbered 7), peripheral blood samples of 2 high-risk pregnant women with trisomy 18 (numbered 1 and 6), and 2 samples of high-risk pregnant women with trisomy 18. 21-trisomy syndrome Tang screening high-risk pregnant women peripheral blood samples (numbered 2 and 3), 1 case of superfemale syndrome (specifically XXX) Tang screening high-risk pregnant women peripheral blood samples (numbered 4), 1 case of Cranfer Peripheral blood samples (number 5) of high-risk pregnant women with Turner syndrome (specifically XXY) and 1 case of high-risk pregnant women with Turner syndrome (specifically XO) (number 9) and 1 case of supermale Syndrome (specifically XYY) peripheral blood samples (number 8) of Tang screening high-r...

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PUM

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Abstract

The invention discloses a kit for non-invasively detecting whether a fetal chromosome to be tested is aneuploid and a special probe set thereof. The probe set includes 500 specific probes. Each specific probe includes a DNA fragment 2. The nucleotide sequence of the DNA fragment 2 of the 500 specific probes is sequentially as shown in a sequence 1 from 5' end 16-93rd sites of the sequence table toa sequence 500 from 5' end 16-93rd sites of the sequence table. The experiment proves that the kit provided by the invention can detect whether NO.13 fetal chromosome, NO.18 fetal chromosome, NO.21 fetal chromosome and fetal sex chromosome to be tested are aneuploid, and the detection result is completely consistent with the detection result of the amniotic fluid gold standard. The kit has important application value.

Description

technical field [0001] The invention belongs to the medical field, and in particular relates to a kit for non-invasively detecting whether the chromosome of the fetus to be tested is aneuploid and a special probe set thereof, in particular to a kit for detecting chromosome 13 and chromosome 18 of the fetus to be tested. Chromosome, chromosome 21 and sex chromosome are aneuploid kits and their dedicated probe sets. Background technique [0002] Birth defects are one of the three major diseases that endanger human health. According to the latest data from the World Health Organization, the global incidence of birth defects is about 3%-6%, and there are nearly 8 million newborns with birth defects every year. Chromosomal abnormalities are the leading cause of a large number of birth defects. The most common chromosomal abnormalities generally manifest as chromosomal DNA duplications and deletions, and chromosomal aneuploidy, which refers to the abnormal presence or absence of...

Claims

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Application Information

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IPC IPC(8): C12Q1/6888C12Q1/6869C12N15/11
CPCC12Q1/6869C12Q1/6888C12Q2531/113C12Q2535/122C12Q2537/165
Inventor 伍建姬晓雯刘娜王海丽韩路
Owner 北京迈基诺基因科技股份有限公司
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