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Amplification composition with abnormal number of chromosomal aneuploidy and application thereof

A technique for aneuploidy and chromosomes, which is applied to the field of amplification compositions with abnormal number of chromosomal aneuploidies, can solve the problems of inability to meet practical application, amplification of the number of aneuploidies, etc., and achieves short detection period and results. Objective and accurate, the effect of improving efficiency

Active Publication Date: 2022-02-01
BEIJING MICROREAD GENE TECH
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0004] In the prior art, QF-PCR-based amplification of abnormal aneuploidy numbers of chromosomes 13, 18, 21, X and Y has existed, such as the applicant’s early patent CN104651488A, but in practice it is found that this method has a certain detection efficiency and sensitivity issues, can not meet some practical applications

Method used

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  • Amplification composition with abnormal number of chromosomal aneuploidy and application thereof
  • Amplification composition with abnormal number of chromosomal aneuploidy and application thereof
  • Amplification composition with abnormal number of chromosomal aneuploidy and application thereof

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Experimental program
Comparison scheme
Effect test

Embodiment 1

[0071] Embodiment 1 Reaction system optimization of the present invention

[0072] In this embodiment, parameters are adjusted and optimized for the earlier patent CN104651488A.

[0073] 1) Site selection optimization

[0074] The repeat sequence at the D18S51 site in the patent CN104651488A is (AGAA), and the number of repeats is 7-27. More than 50 alleles of this locus have been reported. Penta D site repeat sequence (AAAGA), repeat number 2.2-17. The repeat times of D18S51 and PentaD loci are quite different. The maximum distance between the two allele peaks at D18S51 can reach 80 bp, and the maximum distance between the two allele peaks at PentaD can reach 71.5 bp. The distance is large, and the chromosome is aneuploid The detection of abnormal body number needs to rely on the ratio of allele peak to peak area, and the dominant amplification of small fragments can cause allele imbalance in normal people and interfere with the judgment of type. Therefore, the present in...

Embodiment 2

[0102] Embodiment 2, the preparation of the detection kit of the present invention and the establishment of detection method

[0103] According to the above-mentioned optimized parameter system, primers, enzymes, buffers, etc. are assembled into the kit of the present invention, specifically, the kit includes PCR reaction solution, primer mixture, enzyme mixture and quality control products, etc., specifically , the components are as follows:

[0104]

[0105] The detection method of the kit is established as follows:

[0106] 1. DNA extraction

[0107] Genomic DNA extraction kit was used for DNA extraction. The operation steps were in accordance with the kit instructions. After DNA extraction was completed, it was quantified with a UV spectrophotometer and diluted to 2-10ng / μl

[0108] 2. Multiplex PCR amplification

[0109] 2.1 Prepare the PCR reaction system according to the table below, vortex to mix, and then centrifuge briefly to make the liquid gather at the botto...

Embodiment 3

[0128] Embodiment 3 Comparison between the present invention and CN104651488A effect

[0129] 1 case of trisomy 21, 1 case of trisomy 18, 1 case of trisomy 13, 1 case of monosomy X, 1 case of XXX syndrome, 1 case of XXY syndrome and 1 case of XYY syndrome The samples were detected and compared using the patent CN104651488A and the amplification system of the present invention at the same time.

[0130] Compared with the patent CN104651488A, the present invention has significant advantages, as follows:

[0131] 1) Higher detection sensitivity

[0132] Genomic DNA of a case of trisomy 13 was diluted to 1ng / μL, 2ng / μL and 4μL / μL, and the invention and the patent CN104651488A simultaneously detected the DNA of the gradient dilution, and the detection was repeated 3 times. The test results are shown in Table 6.

[0133] Table 6 Sensitivity test results

[0134]

[0135]

[0136] The detection sensitivity of patent CN104651488A is 2ng / μL, the detection sensitivity of the p...

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Abstract

The invention relates to an amplification composition, a kit and an application thereof for the abnormal number of chromosomal aneuploidy. sensitivity and detection accuracy.

Description

technical field [0001] The invention belongs to the field of gene detection, and in particular relates to an amplifying composition for abnormal number of chromosomal aneuploidy and application thereof. Background technique [0002] Common autosomal aneuploidy disorders include Down syndrome, Trisomy 18 (Edwards syndrome), Trisomy 13 (Patau syndrome), and some sex chromosome aberrations, such as Klinefelter syndrome (47, XXY) and Turner syndrome (45, X) and so on. At present, karyotype analysis is the gold standard for diagnosis clinically, but this technique has great limitations. It is necessary to perform amniocentesis to obtain amniotic fluid, then culture fetal cells in amniotic fluid, and then perform karyotype analysis. The amount of amniotic fluid samples required is large, and about 20mL of amniotic fluid samples are required for one amniotic fluid cell culture. The analysis cycle is long, usually about 2-3 weeks, which brings great mental pressure to pregnant wom...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883C12Q1/686C12N15/11
CPCC12Q1/6883C12Q1/686C12Q2600/156
Inventor 丛学琦何梦娟张明珠胡欢陈初光
Owner BEIJING MICROREAD GENE TECH
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