Method and device for detecting gene mutation and expression quantity

Abstract

The invention discloses a method and a device for detecting gene mutation and expression quantity. The method comprises the following steps: S1, extracting RNA, interrupting, and carrying out reversetranscription to obtain cDNA; S2, constructing a gene library by adopting cDNA; S3, capturing and enriching a target gene from the gene library by utilizing specific hybridization of a capture probe and the target region; S4, sequencing by using a high-throughput sequencer to obtain RNA targeted sequencing data; S5, analyzing changes of gene mutation and expression quantity in the RNA targeted sequencing data, wherein the step S5 specifically comprises the following substeps: S51, analyzing the gene expression quantity; S52, analyzing gene overexpression; S53, carrying out gene fusion analysis; S54, carrying out the fusion mutation expression quantity analysis; S55, carrying out the single nucleotide variation analysis; S56, analyzing the expression quantity of the mononucleotide variationmutation. RNA transcripts expressed by tumor-related genes can be efficiently enriched, and the expression quantity and mutation conditions of the tumor genes in tumor tissues are analyzed.

Description

technical field [0001] The invention relates to the technical field of biology, in particular to a method and device for detecting gene mutation and expression. Background technique [0002] Gene mutation refers to the sudden and heritable variation phenomenon (gene mutation) that occurs in genomic DNA molecules. From the molecular level, gene mutation refers to the change of base pair composition or sequence in gene structure. Genes are stable enough to replicate themselves precisely as cells divide, but this stability is relative. Under certain conditions, a gene can also suddenly change from its original form of existence to another new form of existence, that is, at a site, a new gene suddenly appears to replace the original gene. This gene is called a mutant gene. New traits which were never present in the progenitor suddenly appear in the expression of the offspring. [0003] Gene mutation is one of the important factors of biological evolution, so the study of gene...

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Problems solved by technology

However, detecting mutations at the DNA level cannot reflect the true expression of mutations at the transcriptional level

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