Detection of rare gene mutations

Abstract

The invention relates to a method for detecting rare gene mutations. The method utilizes high-selectivity gene mutation detection primers and hinders, to achieve a purpose of enriching rare mutation products by specifically inhibiting wild-type amplification. The method, the primers and the hinders in the invention are particularly suitable for efficient and low-cost detection of rare gene mutations in cfDNA according to an NGS technology.

Description

technical field [0001] This article relates to the detection of gene mutations, especially the method for selectively enriching rare gene mutations, the corresponding enrichment system, and the primers and barriers in the enrichment system. Background technique [0002] Gene mutation refers to the variation of the base sequence of genomic DNA molecules. From the molecular level, gene mutation refers to the change of base pair composition or sequence in gene structure. The study of gene mutations has become one of the hotspots in life science research today, and the detection methods have also developed rapidly. new era. However, in the high background of wild-type templates, whether it is traditional qPCR detection technology or NGS technology, the ability to detect low-level gene mutations is limited. [0003] Rare gene mutations refer to extremely rare gene mutations that exist in the background of a large number of wild gene sequences. The most common example of rare ...

AI Technical Summary

Problems solved by technology

Due to the limitation of sequencing chip capacity and cost, NGS is facing challenges for mutations less than 0.1%.

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