Chip and method for capturing target sequences of tumor susceptibility genes, and mutation detection method

Abstract

The invention discloses a chip and method for capturing target sequences of tumor susceptibility genes, and a mutation detection method. The chip is a liquid chip which binds with probe groups capable of simultaneously capturing at least 5, preferably at least at least 10, preferably at least at least 20, preferably at least at least 30, preferably at least at least 50, preferably at least at least 80, preferably at least at least 100, preferably at least at least a10, or preferably all of 115 genetic tumor susceptibility genes as shown in a table 1. The mutation detection method comprises a step of capturing the target sequences of the genetic tumor susceptibility genes by using the liquid chip and a step of carrying out sequencing by using G2 high-flux sequencing technology so as to find out mutation sites. The mutation detection method has the advantages of a wide application scope, high efficiency, comprehensiveness and easy operation, can detect replacement of a single base, insertion or deletion of a single base / multiple bases and deletion / amplification of large fragments and is capable of realizing high-efficiency comprehensive detection of common tumor susceptibility gene mutation.

Description

technical field [0001] The invention relates to the technical field of chip and sequencing, in particular to a chip for capturing a target sequence of a tumor susceptibility gene, a method and a mutation detection method. Background technique [0002] In recent years, the morbidity and mortality of malignant tumors (ie, cancer) in my country have been increasing, and malignant tumors have become a major public health problem in our country. The pathogenesis of tumors can be divided into three types: hereditary, familial, and sporadic. Among them, the incidence of hereditary tumors accounts for 5%-10% of the total incidence of tumors. Hereditary cancers arise from germline mutations in specific genes that are passed on in families, leading to an increased risk of cancer in offspring. Those genes that are prone to germline mutations are called hereditary cancer susceptibility genes . Individuals carrying inherited tumor susceptibility genes have several times or even dozens ...

AI Technical Summary

Problems solved by technology

Although the direct sequencing technology of PCR products has the advantages of being fast, simple, stable and economical, it also has disadvantages, such as low throughput, high cost, cumbersome operation steps, and low degree of automation, making it difficult to apply to tumor susceptibility genes on a large scale. multi-site detection

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