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A device for detection of DNA copy number variation in circulating tumors

A copy number variation and tumor technology, applied in genomics, instrumentation, sequence analysis, etc., can solve the problems of increasing the difficulty of detection and the low proportion of ctDNA

Active Publication Date: 2022-05-17
ANNOROAD GENE TECH BEIJING +2
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

In addition, the proportion of ctDNA carrying CNV mutations released by tumor cells is also low, which further increases the difficulty of detection

Method used

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  • A device for detection of DNA copy number variation in circulating tumors
  • A device for detection of DNA copy number variation in circulating tumors
  • A device for detection of DNA copy number variation in circulating tumors

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0081]CNV was detected in a peripheral blood sample of a female breast cancer patient using the device for detecting copy number variation of circulating tumor DNA samples of the present invention.

[0082] 1.1 Extraction of cfDNA from peripheral blood samples

[0083] Blood cfDNA was extracted using MagMAX Cell-Free DNA Isolation Kit Kit (Life Company), and the extracted cfDNA was obtained. The extraction method was referred to the manual.

[0084] 1.2 End Repair

[0085] (1) Take out the required reagents from the kit stored at -20°C in advance, and see Table 1 for the preparation amount of a single sample.

[0086] Table 1

[0087]

[0088] (2) End repair reaction: After adding the DNA sample, place the 1.5mL centrifuge tube in a Thermomixer for 30 minutes at 20°C. After the reaction, use 1.8×nucleic acid purification magnetic beads to recover and purify the DNA in the reaction system, and dissolve it in 32μLEB.

[0089] 1.3 Add "A" at the end (A-Tailing)

[0090] (...

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Abstract

The invention relates to a device for detecting the variation of the copy number of circulating tumor DNA, which has high detection sensitivity. The device of the present invention includes a sequencing data acquisition module, a sequence comparison module, a pre-data processing module, a normalization module, a background library screening module, a data fluctuation elimination module, a GC correction module and an output module.

Description

technical field [0001] The invention belongs to the field of molecular biology detection, and in particular relates to a device and a method for detection of circulating tumor DNA copy number variation. Background technique [0002] As early as 1948, Mandel and Metais detected free DNA fragments (cell-free, cfDNA) from normal human blood. In 1977, Leon et al. found that the content of cfDNA in tumor patients was significantly higher than that in healthy individuals, and the content of cfDNA in patients with advanced tumors was higher. With the deepening of the research, the researchers found that in the plasma and serum cfDNA of tumor patients, there is a DNA fragment identical to that of the tumor gene, which is named ctDNA (circulating tumor DNA). ctDNA is the genomic DNA released by tumor cells into the peripheral blood. Due to the short half-life of circulating DNA in peripheral blood, circulating tumor DNA can truly reflect the true situation of gene mutations in dise...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): G16B20/20G16B20/10G16B30/10
CPCG16B25/00
Inventor 荆瑞琳张萌萌陈利斌王晓雯陈玉洁玄兆伶李大为梁峻彬陈重建
Owner ANNOROAD GENE TECH BEIJING