A method and kit for determining genome instability based on next-generation sequencing technology

A next-generation sequencing technology and genomic technology, applied in the field of molecular detection, can solve the problems of no biallelic pathogenic mutation load, poor specificity, and low sensitivity, etc.
CN111676277BActive Publication Date: 2020-12-15臻和(北京)生物科技有限公司 +1
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Patent Information

Authority / Receiving Office
CN · China
Patent Type
Patents(China)
Current Assignee / Owner
臻和(北京)生物科技有限公司
Publication Date
2020-12-15

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Abstract

The invention relates to a method and a kit for determining genome instability based on a second-generation sequencing technology, and belongs to the technical field of molecular detection. In order to overcome the lack of genome structure variation in the detection of homologous recombination defects in the prior art, the present invention provides a method and kit for determining genome instability based on next-generation sequencing technology. In this method, the gene to be tested is interrupted and A Connectors, after corresponding PCR reactions, use the designed probes for hybridization capture, amplify the captured DNA library, perform library sequencing, and then use software to evaluate the homologous recombination defect status. Compared with the existing technology, this method can comprehensively evaluate the HRD status, the data results are reliable, and it is suitable for promotion.
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Description

technical field

[0001] The invention relates to a method and a kit for determining genome instability based on a second-generation sequencing technology, and belongs to the technical field of molecular detection. Background technique

[0002] Homologous recombination refers to the recombination between non-sister chromatids or DNA molecules containing homologous sequences on the same chromosome or within molecules. Homologous recombination allows a damaged chromosome to repair itself with the same DNA as another undamaged chromosome, which ensures the integrity of the genome. When cells have homologous recombination gene mutations, resulting in homologous recombination deficiency (homologous recombination deficiency, HRD), cells cannot repair DNA by homologous recombination. For example, the well-known breast cancer tumor-associated genes BRCA1 and BRCA2 are homologous recombination proteins. When an individual's BRCA1 and BRCA2 genes are mutated, the lifetime risk of brea...

Claims

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