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Noninvasive prenatal screening 2, 1-trisomy syndrome kit

A technique for trisomy syndrome and prenatal screening, which is applied in the determination/testing of microorganisms, biochemical equipment and methods, etc. It can solve the problems that the sensitivity needs to be further improved, it is easy to cause intrauterine infection, and the operation is traumatic. Achieve the effects of preventing the birth of new children, shortening the detection cycle, and high sensitivity

Active Publication Date: 2015-12-09
邯郸市康业生物科技有限公司
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  • Summary
  • Abstract
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  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0005] The above-mentioned prenatal genetic diagnosis includes cytogenetic diagnosis based on invasive procedures such as amniocentesis and chorionic villus aspiration. Although the diagnosis is accurate, it is easy to cause intrauterine infection, miscarriage, and even harm to the fetus because of the traumatic operation. Has a certain impact and is an intrusive inspection
Although high-throughput sequencing methods and other non-invasive methods have solved the problems caused by invasiveness, the operation is relatively cumbersome and the sensitivity needs to be further improved.

Method used

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  • Noninvasive prenatal screening 2, 1-trisomy syndrome kit

Examples

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Embodiment 1

[0023] A non-invasive prenatal screening kit for trisomy 21, comprising a PCR reaction solution, the PCR reaction solution contains probes and primers, the probes are TaqMamUPL6-FAM probes and TaqMamUPL15-TET probes, TaqMamUPL6-FAM The probe is used to detect chromosome 18, and the TaqMamUPL15-TET probe is used to detect chromosome 21. For chromosome 21, 20 pairs of corresponding upstream primers and downstream primers are designed and synthesized. The gene sequence is SEQ ID NO.1-40; and Design and synthesize 20 pairs of corresponding upstream primers and downstream primers for chromosome 18, whose gene sequence is SEQ ID NO.41-80; TaqMamUPL6-FAM probe, whose gene sequence is SEQ ID NO.81; TaqMamUPL15-TET probe, whose gene sequence The sequence is SEQ ID NO.82.

[0024] The PCR reaction solution also contains extracted maternal peripheral blood fetal cfDNA, TaqManGenotypingMasterMix, droplet stabilizer and ultrapure water.

[0025] The final concentration of TaqManGenotyping...

Embodiment 2

[0026] Example 2 The application of the non-invasive prenatal screening kit for trisomy 21, comprising the following steps:

[0027] Step 1: collect peripheral EDTA anticoagulant blood of pregnant women, and extract free DNA from peripheral blood of pregnant women;

[0028] 2: Use primer design software to independently design primers to prepare water-in-oil droplets;

[0029] 3: 20-fold digital PCR single-molecule amplification;

[0030] 4: Optical signal detection and counting of PCR products;

[0031] 5: Perform bioinformatics analysis on the results to obtain fetal genetic data.

[0032] Specifically include the following steps:

[0033] 10mL of peripheral blood was collected from the hospital for 5 high-risk pregnant women who were tested for Tang screening (these 5 pregnant women were diagnosed with trisomy 21 by drawing amniotic fluid in the hospital at the same time, and two of them were diagnosed as trisomy 21 , three normal fetuses), follow the steps below for no...

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Abstract

The invention discloses a noninvasive prenatal screening 2, 1-trisomy syndrome kit, and relates to the technical field of a nucleic acid determination or inspection method. The noninvasive prenatal screening 2, 1-trisomy syndrome kit comprises a PCR reaction solution, wherein the PCR reaction solution contains a TaqMam UPL6-FAM probe and a TaqMam UPL15-TET probe, the TaqMam UPL6-FAM probe and the TaqMam UPL15-TET probe are respectively used for detecting No.18 and No.21 chromosomes, 20 pairs of primers are respectively designed for the No.21 and No.18 chromosomes, gene sequences of the primers are SEQ ID NO.1 to 40 and SEQ ID NO.41-80; and gene sequences of the TaqMam UPL6-FAM probe and the TaqMam UPL15-TET probe are SEQ ID NO.81 and SEQ ID NO.82. By adopting the noninvasive prenatal screening 2, 1-trisomy syndrome kit, the noninvasive prenatal screening of 21-trisomy syndrome, and the accuracy is high.

Description

technical field [0001] The invention relates to the technical field of nucleic acid determination or detection methods, in particular to a non-invasive prenatal screening kit for trisomy 21. Background technique [0002] Trisomy 21 is the most common chromosomal disease in the fetus. The incidence rate in newborns is about 1 / 800, accounting for 70-80% of chromosomal diseases in children. The incidence rate increases with the increase of mother's age. At present, there are more than 1 million patients in my country, and a child with trisomy 21 syndrome is born in an average of 20 minutes. There are as many as 270,000 children with trisomy 21 syndrome born in the country every year. Patients with trisomy 21 have an extra chromosome 21, which mainly manifests as mental retardation, developmental delay and special facial features. Because trisomy 21 has brought irreparable pain and heavy mental burden to parents, families and society, prenatal diagnosis for high-risk groups suc...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68
CPCC12Q1/6851C12Q2531/113C12Q2537/143C12Q2561/101C12Q2563/159
Inventor 管丽白丽燕王瑞晓尚洁
Owner 邯郸市康业生物科技有限公司
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