c6orf97 gene mutation detection specific primers and liquid-phase chip

Abstract

The invention discloses a C6ORF97 gene mutation detection liquid chip, and specific primers. The C6ORF97 gene mutation detection liquid chip mainly comprises: ASPE primers, wherein each ASPE primer is composed of 5'-terminal tag sequence, and 3'-terminal specific primer sequence targeting target gene mutation sites, and the specific primer sequence comprises SEQ ID No.9 and SEQ ID No.10 targeting C1810T site, SEQ ID No.11 and SEQ ID No.12 targeting T91235C site, SEQ ID No.13 and SEQ ID No.14 targeting A68C site, and / or SEQ ID No.15 and SEQ ID No.16 targeting A123001G site; microballoons coated with anti-tag sequence; and amplification primers. Self-agreement ratio of detection results of the liquid chip with detection results of sequencing is as high as 100%; and parallel detection of wild types and mutant types of a plurality of mutation sites is realized.

Description

technical field [0001] The invention belongs to the field of molecular biology, relates to medicine and biotechnology, in particular to a C6ORF97 gene mutation detection specific primer and a liquid phase chip. Background technique [0002] Chromosome 6 open reading frame 97 (chromosome 6 open reading frame 97), located on chromosome 6 6q25.1, found a chromosome structure maintenance domain at the carboxy-terminal of C6orf97 protein, and chromosome proteins play an important role in chromosome dynamics. With the deepening of breast cancer genes and genome-wide association studies (GWASs), more and more data have shown that gene mutations are closely related to the incidence of breast cancer. In 8 GWAS studies, rs2046210 of the C6orf97 gene was screened out. and rs3757318 are two sites worthy of attention. Further research on the function of C6orf97 found that there is a certain correlation between this gene and lumbar bone density. [0003] At present, the detection method...

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Problems solved by technology

[0003] At present, the detection methods of C6ORF97 gene mutation mainly include: Illumina fiber optic bead chip technology, matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF-MS), SNPlexTM System technology and fluorescence quantitative PCR technology, although Illumina fiber optic bead chip technology is High-sensitivity and accurate high-throughput detection system, but with low degree of automation and many manual operations, it is difficult to meet the needs of practical applications. Matrix-assisted laser desorption ionization time-of-flight mass spectrometry technology is a soft ionization technology. Molecular detection has powerful and mature functions, but in the field of nucleic acid detection, due to the particularity of nucleic acid molecules, detection is subject to certain restrictions

The SNPlexTMSystem technology has high requirements on the specificity of SNP sequences, and it cannot randomly analyze the selected single nucleotide polymorphism sites, so it is difficult to apply to clinical detection and diagnosis. Moreover, the method is complicated to operate and cannot meet the needs of practical applications.

Fluorescent quantitative PCR technology has the characteristics of high sensitivity, strong specificity, and high degree of automation, but it has the disadvantages of easy sample contamination and high false positive rate, and can only detect one mutation type at a time, which also cannot meet the needs of practical applications.

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