FGFR (fibroblast growth factor receptor) fusion gene detection method and reagent kit and probe library

Abstract

The invention develops a method for capturing a specific FGFR fusion gene sequence based on hybridization selection. Through the adoption of the method, a FGFR fusion gene DNA fragment which is enriched by thousands of times can be obtained, the enriched FGFR fusion gene fragment sample can be selectively applied to various gene detection techniques and especially can be used for detection in the respects of gene mutation, deletion, increase, transversion and the like through a next-generation sequencing technique so as to obtain high-efficiency and accurate result.

Description

technical field [0001] The invention relates to a detection method, a kit and a probe library of an FGFR fusion gene, and belongs to the technical field of gene sequencing. Background technique [0002] The FGFR (Fibroblast growth factor receptor: fibroblast growth factor receptor) family is a generic term for transmembrane tyrosine kinase molecules that function as receptors for FGF (Fibroblast growth factor: fibroblast growth factor). In humans, four types of molecules belonging to the FGFR family are known, including FGFR1 to 4. The FGFR protein has 3 Ig-like (immunoglobulin-like) regions, 1 transmembrane region in the extracellular region, 2 tyrosine kinase regions in the intracellular region, and binds to the ligand FGF protein in the extracellular Ig region Afterwards, dimerization and phosphorylation occur, and downstream signaling pathways are activated. It is known that the mutation, amplification and fusion of FGFR family member genes are related to the occurrenc...

AI Technical Summary

Problems solved by technology

FGFR protein N-terminal fusion also occurs, such as SLC45A3-FGFR2 (Solute Carrier Family 45 Member 3), resulting in the entire FGFR2 coding region under the control of the SLC45A3 promoter, resulting in protein overexpression

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