Primer pools and detection method for detecting BRCA1/2 gene mutation

Abstract

The invention discloses a primer group and a method for detecting BRCA1 / 2 gene mutation. The primer group comprises three primer pools, 97 pairs of primers in total, and the sequences of the upstreamand downstream primers are as shown in SEQ ID NO.1-194. The method comprises the following steps: first, extracting DNA of a to-be-detected sample, carrying out multiplex PCR amplification by adoptingthe three primer pools, and combining target fragments obtained through amplification by adopting the three primer pools, thus constructing a library, and finally, carrying out library sequencing andbiological information analysis, thus obtaining the BRCA1 / 2 gene mutation condition of the sample. The method has the advantages of high flux, high accuracy, high sensitivity, high automation degree,low demanded quantity of samples, low cost, rapidness, detection for various mutation types, simultaneous detection for multi-site mutation and the like, can be applied to tumor high-risk screening,medication guidance, prognosis and the like, has great significance in domestic BRCA1 / 2 gene mutation detection and pathogenicity analysis and evaluation, and has a wide application prospect.

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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