Kit for 21-trisomy risk detection

A technology for risk detection and kits, which is applied in the determination/inspection of microorganisms, biochemical equipment and methods, DNA/RNA fragments, etc., can solve the problem of high cost, achieve low cost, improve accuracy, improve detection accuracy and The effect of sensitivity

Pending Publication Date: 2020-10-13
济南国科医工科技发展有限公司
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Problems solved by technology

However, this method relies on high-throughput sequencing and a large number of statistical calculations, so the cost is relatively high, and it requires a detection cycle of more than 2 weeks and a detection price of about 1,200 yuan

Method used

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  • Kit for 21-trisomy risk detection
  • Kit for 21-trisomy risk detection
  • Kit for 21-trisomy risk detection

Examples

Experimental program
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Effect test

Embodiment 1

[0047] The primer set in the kit, its concentration, position, and product size after PCR reaction are shown in Table 1 below:

[0048] Table 1

[0049]

[0050] The endonuclease buffer system in the kit includes 5* Cutsmart buffer, HpaII enzyme and sterile water. The PCR reaction system also includes Premix solution and sterile double distilled water.

[0051] The steps to use the kit are:

[0052] 1. Extract the peripheral blood of pregnant women with a gestational age > 12, the volume is 4-8mL, and use the free DNA extraction kit (Sigma, B518253-0050) for free DNA extraction. The purity and concentration of the obtained DNA: DNA concentration was measured at 260nm, The protein concentration was measured at 280nm, and the salt concentration was measured at 230nm. The concentration is guaranteed to be ≥20ng / mL; the absorbance at 260nm / absorbance at 280nm is between 1.6-2.0; at the same time, the absorbance at 260nm / absorbance at 230nm must be greater than 1.5 to ensure ...

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Abstract

The invention discloses a kit for 21-trisomy risk detection. The kit comprises an endonuclease buffer solution system and a PCR system, wherein the PCR system comprises a primer group aiming at 8 detection areas of EP1-EP8. The kit realizes non-methylated loci in maternal peripheral blood by an optimized restriction endonuclease to realize fetus DNA separation, detects the 8 areas of which a fetaltrisomy risk can be prompted and can thus be applied to reflection of the fetal 21-trisomy risk in combination with a mature fluorogenic quantitative PCR. The kit screens the multiple loci which arecorrelated with the trisomy risk and have a stable level for detection and sets two control loci to increase accuracy of detection results. The kit can predict the fetal trisomy risk through detectionof only a few of the gene loci, so that defects in high cost and a long detection period caused by high-throughput gene sequencing can be overcome, and the kit thus becomes a potential new product for non-invasive antenatal diagnosis.

Description

technical field [0001] The invention relates to the field of reagents for medical testing, in particular to a kit for 21-trisomy risk detection. Background technique [0002] Trisomy 21 (T-21) syndrome, also known as Down syndrome, congenital stupidity or Down syndrome, is the most common chromosomal aneuploidy disease clinically. The incidence rates are about 1 / 700, and the vast majority of children have severe mental retardation and organ deformities. So far, there is no effective treatment for this disease. Therefore, the best way to reduce the risk of having a child with a chromosomal disorder is through prenatal genetic counseling and prenatal testing, diagnosis, detection, and resolution of the problem as early as possible. Therefore, T21 detection has always been the top priority of controlling and preventing birth defects in clinical diagnosis. [0003] At present, the prenatal diagnosis of fetal chromosomal aneuploidy is mainly carried out through Down's screenin...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12Q1/6851C12N15/11
CPCC12Q1/6883C12Q1/6851C12Q2600/158C12Q2527/125C12Q2531/113
Inventor 殷建尹焕才田晶晶蔺春茂
Owner 济南国科医工科技发展有限公司
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