A method and kit for detecting breast cancer susceptibility genes

Abstract

The invention relates to the field of genetic engineering, and provides a method and a kit for assaying breast cancer susceptibility genes. The method for assaying breast cancer susceptibility genes includes the following steps: (A) breast cancer susceptibility gene specific primers are utilized to amplify a plurality of target regions in a sample to be assayed, and a sequencing library is constructed on the basis of amplification products; (B) the single-molecule amplification of the sequencing library is carried out, so that a plurality of single-molecule amplification products corresponding to the target regions are obtained; (C) the high-throughput gene sequencing of the single-molecule amplification products is carried out simultaneously, so that the sequence information of the target regions is obtained. The method and the kit for assaying breast cancer, which are provided by the invention, can assay a plurality of regions of a breast cancer susceptibility gene at the same time, consequently, the efficiency of assay is increased, the assay cost is reduced, and in addition, the sensitivity of assay and the comprehensiveness and accuracy of the assay result are increased as well.

Description

technical field [0001] The invention relates to the field of genetic engineering, in particular to a method and kit for detecting breast cancer susceptibility genes. Background technique [0002] Susceptibility genes refer to genes or alleles that have a certain association with a specific disease. The specific gene sequence information can be obtained by detecting the susceptibility genes and mutation sites of complex diseases. On this basis, disease models can be established in combination with further molecular biology tests, clinical trials, clinical observations, and statistical analysis of comprehensive data, so as to achieve early assessment of disease susceptibility and take corresponding preventive measures to reduce the incidence of disease. A large number of studies have confirmed that genetic factors play an important role in the susceptibility of diseases. The genetic factors of complex diseases have proved to have a minor gene dosage effect, that is, the accum...

AI Technical Summary

Problems solved by technology

At present, the common method for detecting breast cancer susceptibility genes is Sanger sequencing, which can detect regions of breast cancer susceptibility genes, but Sanger sequencing can only sequence a certain region of a sample at a time, so the detection efficiency Low, high cost; and due to the limitation of sanger sequencing principle, double peaks or even multiple peaks will appear when detecting the signal of a heterozygous sample, making the sample unable to be accurately identified, resulting in low detection sensitivity (20%)

[0005] In addition, another commonly used method for the detection of breast cancer susceptibility genes is the gene chip method, which can only design detection probes for one or several known mutation sites to form a detection chip, so it cannot be used to detect unknown mutations. mutation sites, the detection results are not comprehensive and accurate enough

[0006] At present, the detection kits based on the detection methods of the existing technology on the market only detect a single region or one or several known SNP sites, and the detection results are not comprehensive and accurate enough.

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