A high-throughput sequencing method for detecting multiple variant types of genes and its application

Abstract

The invention discloses a high-throughput sequencing method for detecting multiple mutation types of genes and an application thereof, belonging to the field of gene detection. It includes searching the database to select cancer targeted drug genes, chemotherapy resistance or sensitive genes, and mutation sites of cancer driver genes and their upstream and downstream extensions of 100bp as target intervals, synthesizing capture probes correspondingly paired with the target intervals, and capturing The target region of the sample DNA is tested and a high-throughput sequencing library is constructed, and then high-throughput sequencing is performed to obtain the sequence of the target fragment, so as to obtain the results of cancer-related gene point mutations, insertion-deletion variations, copy number variations, and gene fusion variations. The invention can detect multiple types of mutations of 105 cancer-related genes at one time, and has the characteristics of high capture efficiency and good uniformity.

Description

technical field [0001] The invention belongs to the technical field of gene detection, and more specifically relates to a high-throughput sequencing method for detecting multiple mutation types of genes and its application, which can simultaneously detect multiple cancer-related gene fusions, copy number variations, point mutations and insertions Deletion variant. Background technique [0002] In China, the death rate caused by tumors is increasing year by year. Cancer has become an important factor affecting public health. In 2015, statistics showed that there were 4,292,000 new cancer patients and 2,814,000 deaths. With the popularization of diagnosis, the proportion of lung cancer diagnosis and death rate is increasing. Cancer rates are higher in rural areas than in urban areas. The tumor incidence rate in the United States is 45%, and the mortality rate is 30%, and this ratio is also increasing year by year. However, with the application of early tumor screening, di...

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Problems solved by technology

[0012] In summary, most of the gene detection methods in the prior art focus on the detection of point mutations, insertions / deletions, DNA copy number changes and other mutation types, while it is rare to combine multi-oncogene fusion problems with point mutations, insertions / deletions, DNA copy number changes, etc. There are reports of simultaneous detection of multiple changes, the limitation of clinical detection range (mutation detection of several sites) and the high detection cost of Sanger sequencing technology for multi-gene detection, which greatly limits its practical clinical application.

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