Tumor fusion gene targeted detection probe, kit and application

Abstract

The invention relates to a tumor fusion gene targeted detection probe, a kit and application. The probe performs targeted capture on a fusion mutation occurring main region on the basis of the DNA level, balances the coverage degree and optimizes the specificity; the ideal coverage is realized on a target region with high fusion mutation occurrence frequency; and high uniformity is realized. The applicability to tumor tissue samples or biopsy samples is realized, and meanwhile, the applicability to plasma free DNA capture is also realized, so that specimen source guarantee can be provided fora patient incapable of obtaining tissue / cell samples for many times during follow-up inspection or medicine effect inspection. In addition, for the probe design, the capture is performed on the targetregion on the basis of a liquid-phase hybridization method; and new fusion events can be detected and reported. The method has higher superiority than an amplification method. In addition, the designed probe has much higher flexibility on the fusion detection technology than an existing traditional detection technology. Through high-depth sequencing, the fusion with the mutation frequency of 1 percent or lower can be detected; and meanwhile, the specific fusion fracture sites can be reported.

Description

technical field [0001] The invention relates to the field of tumor detection, in particular to a tumor fusion gene targeted detection probe, kit and application. Background technique [0002] At present, it is believed that tumorigenesis is the result of the accumulation of multiple gene mutations, which ultimately manifests as abnormalities in various biological characteristics of tumors, such as uncontrolled proliferation, escape from growth inhibition, anti-apoptosis, replication and immortalization, promotion of angiogenesis, invasion and metastasis , energy metabolism disorders, promotion of inflammation, immune escape, and genome instability. [0003] With the development of tumor molecular biology and genomics, people's understanding of tumor molecular phenotype is also deepening. The strategy of tumor diagnosis and treatment has gradually changed from the previous stage of systemic chemotherapy centering on the site of disease and morphological pathology to targeting...

AI Technical Summary

Problems solved by technology

Traditional solid tumor fusion gene detection does not cover ideal sites in complex sequence regions such as introns, which limits the application of tumor multigene detection

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