Looking for breakthrough ideas for innovation challenges? Try Patsnap Eureka!

Kit for non-invasive prenatal screening for trisomy syndrome and application thereof

A technique for trisomy syndrome and trisomy 21, which is applied in the determination/inspection of microorganisms, biochemical equipment and methods, DNA/RNA fragments, etc., and can solve the problems of low detection sensitivity, high cost of next-generation sequencing technology, detection Long process and other issues

Active Publication Date: 2019-04-30
SHENZHEN HUADA GENE INST
View PDF5 Cites 5 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, the next-generation sequencing technology has problems such as high cost and long detection process.
The clinical symptoms of chromosomal abnormalities are different, and the targets that need to be detected are also different. Although FISH method and fluorescence quantitative technology can selectively detect different targets, these two methods have low detection sensitivity and high requirements for samples. question

Method used

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
View more

Image

Smart Image Click on the blue labels to locate them in the text.
Viewing Examples
Smart Image
  • Kit for non-invasive prenatal screening for trisomy syndrome and application thereof
  • Kit for non-invasive prenatal screening for trisomy syndrome and application thereof
  • Kit for non-invasive prenatal screening for trisomy syndrome and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0081] Example 1. Screening of trisomy-specific repeat sequences and detection primers and probes thereof

[0082] 1. Screening of trisomy-specific repeat sequences

[0083] 1. Database normalization

[0084] Download all the repetitive sequences in the human genome sequence hg38 from the repeatmaster software, and extract the chromosomes, chromosome start and end positions, repeat sequence names, repeat sequence start and end positions, and repeat sequence types according to its unique format As well as the base sequence of the repetitive sequence, it is integrated into the fasta format, and the standardized database is obtained and saved.

[0085] 2. Screening of feature sequences

[0086] In the normalized database, search for specific repetitive sequences of more than 50 bp in the two regions, which need to have a copy number > 5, and there is no variation or polymorphism. These repetitive sequences are searched outside the region in turn, and if there is the same sequen...

Embodiment 2、18 and 21 3

[0097] The detection method of embodiment 2, 18 and 21 trisomy

[0098] 1. Preparation of samples to be tested

[0099] 1. Experimental group samples

[0100] (1) Trisomy 18 DNA (DNA of patients with clinically diagnosed trisomy 18 syndrome), YH cell line DNA, and mixed samples of trisomy 18 DNA and YH cell line DNA were used as samples to be tested. The mixed samples of trisomy 18 DNA and YH cell line DNA are mixed according to the following proportions: 50%, 25%, 10%, 5%, 2.5%, 1% and 0.5% to obtain trisomy 18 with different mutation frequencies Mixed samples. The DNA concentration in each sample to be tested is 2ng / ul.

[0101] (2) Trisomy 21 DNA (DNA of a clinically diagnosed trisomy 21 patient), YH cell line DNA, and a mixed sample of trisomy 21 DNA and YH cell line DNA were used as samples to be tested. The mixed samples of trisomy 21 DNA and YH cell line DNA are mixed according to the following proportions: 50%, 25%, 10%, 5%, 2.5%, 1% and 0.5% to obtain trisomy 21 w...

Embodiment 3

[0141] The specific detection of embodiment 3, primer and probe

[0142] (1) Specific detection of primers

[0143] 1. Using normal human cell DNA as a template, PCR amplification was performed using the PRIMAX-F and PRIMAX-R primers designed in Example 1 to obtain a PCR amplification product.

[0144] The above PCR amplification products were detected by agarose gel electrophoresis. The results showed that a band with a size of about 60bp was obtained by PCR amplification, which was consistent with the expectation and the band was single, indicating that the primers of PRIMAX-F and PRIMAX-R had good specificity.

[0145] 2. Using normal human cell DNA as a template, PCR amplification was performed using the TAR-F and TAR-R primers designed in Example 1 to obtain a PCR amplification product.

[0146] The above PCR amplification products were detected by agarose gel electrophoresis. The results showed that a band of about 60 bp was obtained by PCR amplification, which was co...

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

PUM

No PUM Login to View More

Abstract

The invention discloses a kit for non-invasive prenatal screening for trisomy syndrome and an application thereof. The kit of the present invention includes a primer pair and a probe for prenatal screening of trisomy 13 syndrome, a primer pair for prenatal screening of trisomy 18 syndrome, and a primer pair and a probe for prenatal screening of trisomy 21 syndrome. The invention also discloses a non-invasive prenatal screening method for trisomy syndrome. Compared with a second-generation sequencing method, the screening method has the advantages of low cost, short detection period, high detection sensitivity, convenience and absolute quantification.

Description

technical field [0001] The invention belongs to the field of biotechnology, and in particular relates to a primer and a probe for prenatal detection of trisomy 13, 18 and 21 in plasma free DNA based on digital PCR technology and a detection method thereof. Background technique [0002] Since the completion of the Human Genome Project, genomics has been deeply studied to the extent of single-base variation. With the addition of advanced research technologies such as next-generation sequencing, more and more common diseases can be explained using genomic variation. Among them, the etiology of chromosomal abnormality-related diseases (chromosomal diseases) has been studied very deeply, which is very suitable for the application of clinical detection technology. Chromosomal abnormalities include abnormalities in chromosome number and structure (including chromosome fusions, copy number variations, and small deletions). Variations in chromosomal structure are the cause of or pl...

Claims

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

Application Information

Patent Timeline
no application Login to View More
IPC IPC(8): C12Q1/6883C12Q1/6851C12N15/11
CPCC12Q1/6851C12Q1/6883C12Q2600/16C12Q2537/143C12Q2563/159C12Q2537/16
Inventor 易吉李南南朱师达
Owner SHENZHEN HUADA GENE INST
Who we serve
  • R&D Engineer
  • R&D Manager
  • IP Professional
Why Patsnap Eureka
  • Industry Leading Data Capabilities
  • Powerful AI technology
  • Patent DNA Extraction
Social media
Patsnap Eureka Blog
Learn More
PatSnap group products

Browse by: Latest US Patents, China's latest patents, Technical Efficacy Thesaurus, Application Domain, Technology Topic, Popular Technical Reports.

© 2024 PatSnap. All rights reserved.Legal|Privacy policy|Modern Slavery Act Transparency Statement|Sitemap|About US| Contact US: help@patsnap.com