Probe and sequence combination for simultaneous detection of various mutation types

Abstract

The invention discloses a probe and a sequence combination for simultaneous detection of various mutation types and particularly provides a kit, a method, a gene chip, a probe and a sequence combination which are high in sensitivity and specificity and used for simultaneous detection of point mutation, short segment insertion and deletion, copy number variation and fusion genes of 57 tumor driver genes listed in a detection list. The invention further discloses a sequence combination and probe associated gene chip and kit and a method for simultaneous detection of various mutation types. By detection of body fluid including blood, hydrothorax, abdominal dropsy and the like and tumor frozen tissues or paraffin sections, comprehensive tumor driver gene mutation information can be acquired, sensitivity and accuracy in tumor gene detection are improved, and accordingly clinicians can be assisted in making of individualized medication schemes to achieve best accurate treatment effects.

Description

technical field [0001] The invention belongs to the field of gene detection, more specifically the invention relates to the detection of human gene mutations, especially the technology for simultaneous detection of multiple mutation types. Background technique [0002] Cancer is a major problem that endangers public health. In China, cancer is the number one killer of diseases, and its morbidity and mortality are still increasing. In 2015 alone, there were 4.292 million new cancer cases and 2.814 million cancer deaths in China, among which lung cancer had the highest incidence rate and the death rate of lung cancer ranked first among all types of cancer. In addition, gastric cancer, esophageal cancer and liver cancer are also commonly diagnosed cancer types, ranking among the high incidence cancer types (Chen, W., et al., Cancer statistics in China, 2015. CA Cancer J Clin, 2016.66(2): p. 115-32). [0003] Cancer is a genetic disease. Tumor genetics studies have revealed n...

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Problems solved by technology

On the other hand, it is often difficult to obtain tissue samples from patients with advanced tumors. Although ctDNA (Cell-free Circulating Tumor DNA) testing is non-invasive, there are also free DNA in normal tissues in body fluids. ctDNA usually accounts for a very small amount and belongs to ultra-low frequency mutation

At present, for the detection of target genes, although the existing technologies such as ddPCR (droplet digital PCR) can achieve absolute quantification and high sensitivity, such technologies can only detect known mutation sites and cannot detect gene fusions; Although RT-PCR (reverse transcription PCR) technology detects more comprehensive types of mutations, it can only detect known mutation sites, and has limitations such as low sensitivity and low throughput.

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