Equipment, kits and analysis systems for simultaneous prenatal screening of chromosomal and single gene diseases

A prenatal screening and equipment technology, applied in biochemical equipment and methods, genomics, sequence analysis, etc., can solve the problem of low hybridization efficiency

Active Publication Date: 2022-03-22
BEIJING BIOBIGGEN TECH CO LTD +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Such systematic bias suggests slightly less efficient hybridization between the probe and the region of interest with the mutation (minor allele) since the probe is usually designed based on the reference allele (usually the major allele)

Method used

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  • Equipment, kits and analysis systems for simultaneous prenatal screening of chromosomal and single gene diseases
  • Equipment, kits and analysis systems for simultaneous prenatal screening of chromosomal and single gene diseases
  • Equipment, kits and analysis systems for simultaneous prenatal screening of chromosomal and single gene diseases

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0375] Example 1: Targeting probe captures DNA

[0376] a. Plasma separation and cell-free DNA extraction:

[0377] Place the blood collection tube in a centrifuge and centrifuge at 1600g for 10 minutes for EDTA anticoagulant tubes and 15 minutes for Streck tubes. After the centrifugation is completed, slowly draw the supernatant from top to bottom into a 5mL transfer tube, and centrifuge again at 16000g for 10min. The purpose of the second centrifugation of the plasma is to remove all cellular pollutants. Use TIANGEN Magnetic Bead Method Large Volume Free Nucleic Acid Extraction Kit for free DNA extraction, including proteinase K treatment of plasma samples, 60°C water bath for 20 minutes, add MagAttract Suspension E, Buffer GHH and Carrier RNA, vortex and mix for 30 seconds, and then incubate at room temperature for 15 minutes. Magnetic beads adsorb nucleic acids. Use the washing solution Buffer PWG, and vortex to mix well to fully suspend the magnetic beads. Finally, the...

Embodiment 2

[0455] Example 2: Sequencing

[0456] Sequencing was performed using the Huada high-throughput sequencing platform MGISEQ-2000 and supporting reagents high-throughput sequencing kit (PE100). The principle of sequencing is to use combined probe-anchored aggregation technology (cPAS), by polymerizing DNA molecular anchors and fluorescent probes on DNA nanoballs (DNB), and using a high-resolution imaging system to collect optical signals, optical signals After digital processing, high-quality and high-accuracy sample sequence information is obtained. The post-capture amplified library needs to go through the following steps to complete the sequencing output fastq file, library quantification, circularization, DNB preparation, high-throughput sequencing, and data splitting and comparison:

[0457] 1. Carry out the quality control of the concentration and fragment length. The concentration is determined using the invitrogen Qubit Fluorometer and the supporting reagent Qubit 1X dsD...

Embodiment 3

[0466] Example 3: Oligonucleotide probe synergistic allelic target enrichment method improves the capture uniformity of alleles in the target region

[0467] We employed the oligonucleotide probe cooperative allelic target enrichment method (COATE) to reduce the hybridization annealing temperature difference (ΔTm) between the probe and the target including the reference and mutant alleles. Different from traditional probe design, the probe design method provided by the present invention does not require the designed probes to be complementary to the reference genome sequence or mutant sequence, and these probes may or may not be complementary to the reference or mutant allele , it is only required that the ΔTm of the probe to the reference gene sequence (wild type) and the mutant sequence (mutant type) in the capture region be the smallest.

[0468] The following is an example of SNP capture probe design: for the SNP site rs7321990 (chr13: 20257054-20257054) on chromosome 13, ...

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Abstract

The present invention provides a detection method, a kit, and a system thereof for non-invasive prenatal screening of fetal chromosome copy number variation, fetal chromosome microdeletion / microduplication, and / or dominant single gene mutation. And the present invention also provides a method for designing a targeted capture probe, which is used for non-invasive prenatal screening of fetuses. Compared with the existing non-invasive prenatal screening method, it can expand the scope of application of clinical genetic testing and improve the accuracy of testing.

Description

technical field [0001] The present invention provides a detection method, kit, and system thereof for non-invasive prenatal screening of fetal chromosomal copy number variation, fetal chromosomal microdeletion / microduplication, and / or dominant single gene mutation, and a Design approach for targeted capture probes for noninvasive prenatal screening of fetuses. Background technique [0002] Birth defects refer to the abnormal growth and development of the fetus in the mother's womb, resulting in congenital defects that already existed at birth. my country has a large population, and the number of new birth defects is about 900,000 every year, and the incidence of birth defects is about 5.6% [1]. Birth defects are the main cause of infant death and disability, and have become a major public health problem affecting the health of the people, with heavy social and economic burdens. [0003] Genetic factors are an important cause of birth defects. Chromosomal abnormalities and ...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): G16B25/20G16B30/00G16B20/20C12Q1/6883
CPCG16B25/20G16B30/00G16B20/20C12Q1/6883C12Q2600/156G16B40/00
Inventor 不公告发明人
Owner BEIJING BIOBIGGEN TECH CO LTD
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