Detection device for instability of genome copy number

An unstable and detection device technology, applied in the field of medical detection, can solve the problems of low specificity and accuracy, and it is difficult to determine the cancer discrimination standard.

Inactive Publication Date: 2015-04-29
SHANGHAI MAJORBIO BIO PHARM TECH
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

Since different cancer patients have different mutation sites and mutation frequencies, it is difficult to determine the criteria for cancer discrimination, and the specificity and accuracy of the above-mentioned technologies for cancer screening are not high.

Method used

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  • Detection device for instability of genome copy number
  • Detection device for instability of genome copy number
  • Detection device for instability of genome copy number

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0029] Example 1 Detection device for genome copy number instability based on high-throughput sequencing

[0030] A detection device for genome copy number instability, including a sample preparation unit, a sequencing unit, a calculation unit, and a statistical analysis unit, wherein:

[0031] The sample preparation unit includes disposable venous blood collection needle, disposable vacuum blood collection tube, blood anticoagulant EDTA, blood cell protection agent, plasma free DNA purification kit, which is used to extract peripheral blood from the vein of the subject and separate it into the plasma Cell-free DNA;

[0032] The sequencing unit includes a quality inspection module, a high-throughput sequencing module, and a data optimization module, and the high-throughput sequencing module includes a library construction kit and a high-throughput sequencing kit. The quality inspection module is used to perform quality inspection of DNA concentration and fragment size before ...

Embodiment 2

[0035] Example 2 Detection device for genome copy number instability based on gene chip

[0036] The detection device for genome copy number instability involved in this example has basically the same structural composition as the detection device for genome copy number instability in Example 1, and also includes a sample preparation unit, a sequencing unit, a calculation unit and a statistical The analysis unit is different in that: in the sequencing unit of the device of this embodiment, the high-throughput sequencing module in Example 1 is replaced by a gene chip module, and the gene chip module includes a gene chip and a fluorescent signal detector; The gene chip module performs hybridization and sequencing on the free DNA in the plasma sample to be tested, and detects the fluorescence signal intensity value of each genome window through a fluorescent signal detector, so as to quantify the number of sequencing bands in each genome window.

Embodiment 3

[0037] Embodiment 3 The test example of using the device of Embodiment 1 for cancer screening (statistical ZA value)

[0038] This example relates to a test example of using the high-throughput sequencing-based genome copy number instability detection device of Example 1 for cancer screening.

[0039] 1. Build the database for the database module

[0040] 1. Cut the human genome reference sequence GRCh38 into first-to-first-connected and non-overlapping genome windows, each genome window is 1Mb base pairs in size, and each genome window is an independent analysis unit.

[0041] 2. For the above-mentioned about 3,000 genome windows, according to their GC content, whether they contain genes, whether there are copy number variations, whether there are repeated sequences, how many single nucleotide polymorphism (SNP) sites, and whether there are known The characteristics of cancer-related genes and other characteristics are matched with weights respectively.

[0042] 3. Perform ...

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Abstract

The invention relates to the technical field of medical detection and discloses a detection device for the instability of the genome copy number. The detection device comprises a sequencing unit, a calculation unit and a statistical analysis unit, wherein the sequencing unit is used for sequencing of free DNAs in a plasma sample of a person to be detected and obtaining the sequencing number of each genome window of the sample to be detected; the calculating unit is used for calculating the variance value of the copy number of each genome window; and the statistical analysis unit is used for carrying out statistics on the variance value of the copy number of each genome window and analyzing whether the instability of the genome copy number exists. The detected instability of the genome copy number can be further used for judging the risk of the person to be detected suffered from the cancers. The detection device disclosed by the invention has the advantages that a molecular biological sequencing technology and a biological information analysis technology are combined, the recognition for the abnormal condition of the copy number of chromosome is achieved by detecting free DNAs in blood, so that whether the person to be detected is suffered from cancers is judged, and further early-stage non-invasive screening for the cancers is realized.

Description

technical field [0001] The invention relates to the technical field of medical detection, in particular to a device capable of detecting the instability of genome copy number and then applied to early diagnosis and screening of cancer. Background technique [0002] Cancer is a general term for malignant tumors. Cancer cells are characterized by unlimited and endless proliferation, which consumes a large amount of nutrients in the patient's body; cancer cells release a variety of toxins, causing a series of symptoms in the human body; cancer cells can also metastasize It grows and reproduces everywhere in the body, leading to emaciation, weakness, anemia, loss of appetite, fever, and eventually destroys the structure and function of tissues and organs, causing necrosis, hemorrhage and infection, and the patient eventually dies due to organ failure. [0003] At present, the common diagnostic methods for cancer mainly use X-ray, endoscopy, ultrasound, PET-CT and other diagnosti...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12M1/34
CPCC12Q1/6869C12Q1/6874C12Q1/6886
Inventor 杨功达陈昌岳曾丰波任一郭权张祥林
Owner SHANGHAI MAJORBIO BIO PHARM TECH
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