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Design method of primers and probes for detecting dense mononucleotide variation sites by MALDI-TOF mass spectrometry

A single nucleotide variation, mass spectrometry detection technology, applied in the field of nucleic acid detection, to achieve the effect of highly specific, fast and accurate detection

Pending Publication Date: 2020-12-15
周万军 +1
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  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

[0010] The present invention is aimed at the methodological limitations of the current detection of dense single nucleotide variation sites, and invented a method for detecting dense single nucleotide variation sites by MALDI-TOF mass spectrometry, so as to solve the problem of high-throughput detection of dense SNV sites , the development of a rapid detection method for dense SNV sites based on the MALDI-TOF-MS technology platform is of great significance to the practical application and basic research of SNV routine detection of phenotype and disease genetic background analysis and large-scale population typing

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  • Design method of primers and probes for detecting dense mononucleotide variation sites by MALDI-TOF mass spectrometry
  • Design method of primers and probes for detecting dense mononucleotide variation sites by MALDI-TOF mass spectrometry
  • Design method of primers and probes for detecting dense mononucleotide variation sites by MALDI-TOF mass spectrometry

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Embodiment 1

[0074] Example 1 A method for rapid detection of dense single nucleotide variant sites based on MALDI-TOF mass spectrometry platform is applied to genotyping of thalassemia

[0075] Thalassemia ("thalassemia" for short) is a group of hereditary hemolytic diseases that have the greatest impact on human health. The molecular mechanism is derived from the α-globin gene cluster (16p13.3) or the β-globin gene cluster (11p15.5) gene deletion or mutation. Fetal death caused by severe α-thalassemia caused serious complications to pregnant women; children with severe β-thalassemia developed chronic progressive anemia 3 to 6 months after birth, and depended on blood transfusion and iron removal therapy for life, more than adolescents Death, very few patients can be treated with bone marrow transplantation. The disease is inherited in an autosomal recessive manner. Through population molecular screening and genetic diagnosis, it is internationally recognized that prenatal diagnosis is p...

Embodiment 2

[0178] Example 2 A rapid detection method for dense single nucleotide variant sites based on MALDI-TOF mass spectrometry platform is applied to the detection of tyrosine kinase receptor-related lung cancer gene mutation hotspots

[0179] Patients with non-small cell lung cancer (NSCLC) can benefit from corresponding targeted drugs such as tyrosine kinase inhibitors (tyrosine kinase inhibitors, TKI) gefitinib / erolo for EGFR and ALK gene mutations However, most patients will be resistant to TKIs due to secondary mutations after receiving TKI therapy, and new mutation sites are constantly being discovered. Therefore, the complexity of molecular typing of tumor targets determines the necessity of simultaneous multi-gene testing.

[0180]The MassARRAY platform can realize economical and simple multiple amplification reaction genotype detection. By extending the molecular weight of bases, it can be judged whether the target gene is mutated. The technique has accurate typing result...

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Abstract

The invention discloses a design method of primers and probes for detecting dense mononucleotide variation sites by MALDI-TOF mass spectrometry, and provides a method for designing a hybridization probe for specific detection of various mutation types of dense SNV sites of MALDITOF mass spectrometry detection platform. The primers designed by the method can rapidly and accurately detect dense single base mutation sites, has high specificity on mutation sequences, and can be used for quantitative detection of abundance of the mutation sequences.

Description

technical field [0001] The invention belongs to the technical field of nucleic acid detection, and in particular relates to a method for designing primers and probes for detection of dense single nucleotide variation sites by MALDI-TOF mass spectrometry. Background technique [0002] In the genomic DNA sequence, the phenomenon that there is a single nucleotide at the same position among individuals is collectively referred to as single nucleotide variation (single nucleotide variants, SNV). On average, about every 1000 nucleotides in the human genome may have a single nucleotide polymorphism change, some of which play a regulatory role in biological processes such as RNA transcription and protein expression, and are related to human phenotypic traits and Diseases are closely related. Such differential loci and DNA sequences can be used as markers for genome mapping, which are of great significance to the investigation of genetic relationships among individuals, the analysis...

Claims

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Application Information

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IPC IPC(8): C12Q1/6858C12Q1/6883C12Q1/6886C12N15/11
CPCC12Q1/6858C12Q1/6883C12Q1/6886C12Q2600/156C12Q2531/113C12Q2521/525C12Q2533/101C12Q2565/627
Inventor 周万军杨学习朱安娜吴英松李明许旭平
Owner 周万军