A primer pool and detection method for detecting brca1/2 gene mutation

Abstract

The invention discloses a primer set and a method for detecting BRCA1 / 2 gene mutation. The primer set includes three primer pools, with a total of 97 pairs of primers, and the sequences of the upstream and downstream primers are shown in SEQ ID NO.1-194. First, extract the DNA of the sample to be tested, use the above three primer pools for multiplex PCR amplification, and then combine the target fragments amplified by the three primer pools to construct a library; finally, the library is sequenced and analyzed by bioinformatics to obtain the sample BRCA1 / 2 Gene mutations. The method has the advantages of high throughput, high accuracy, high sensitivity, high degree of automation, less sample demand, low cost, fast, can detect multiple mutation types, and can detect multiple site mutations at the same time, and can be applied to high-risk tumors. Risk screening, medication guidance, and prognosis are of great significance in domestic BRCA1 / 2 gene mutation detection and pathogenicity analysis and evaluation, and have broad application prospects.

Description

technical field [0001] The invention belongs to the technical field of gene analysis. More specifically, it relates to a semiconductor sequencing technology-based primer pool for detecting BRCA1 / 2 gene mutations, a detection method and a kit. Background technique [0002] BRCA1 / 2 gene is a kind of tumor suppressor gene, which participates in the cell homologous recombination repair (HRR) process, can ensure the stability of the genetic material (DNA) of the cell, and prevent cell mutation. People who carry harmful mutations of BRCA1 or BRCA2 will have a significantly increased risk of developing ovarian cancer and breast cancer, and there is also a certain degree of familial inheritance. At the same time, harmful BRCA1 / 2 mutations may also increase the risk of pancreatic cancer, gastric cancer, gallbladder and cholangiocarcinoma, melanoma, male breast cancer and other risks. [0003] In addition, the study found that the 5-year survival rate of patients with BRCA1 / 2 mutati...

AI Technical Summary

Problems solved by technology

However, the penetrance and mutation frequency of different populations are different, so there are still obstacles to confirm the pathogenicity of BRCA1 / 2 mutations in the Chinese population

However, in China, there is currently no standardized genetic counseling institution, and there are only some small-scale or partial exon studies, and the data in the BRCA1 / 2 mutation database are simply not enough to support genetic risk assessment

It is inaccurate to interpret the BRCA1 / 2 mutation of the Chinese population directly using the data of European and American populations, and it may cause misdiagnosis

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