FGFR gene fusion probes, detection method and kit

A gene fusion and gene technology, which is applied in the field of biological gene detection technology and biological information, can solve the problems of low throughput, individually designed, and difficult to detect the fusion partner gene, and achieves high sensitivity and specificity and repeatability. Good results

Active Publication Date: 2019-09-10
上海思路迪医学检验所有限公司
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Problems solved by technology

Traditional methods for detecting these gene fusions are usually FISH and IHC, but these have low throughput and need to individually design kits for individual genes, and fusion partner genes are often difficult to detect, so there are limitations in clinical practice

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  • FGFR gene fusion probes, detection method and kit
  • FGFR gene fusion probes, detection method and kit
  • FGFR gene fusion probes, detection method and kit

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Embodiment Construction

[0161] The purpose of the present invention is to provide probe sequences and distribution methods for detecting FGFR1 / 2 / 3 gene fusion. The present invention has designed targeted primers for FGFR1 / 2 / 3 genes, and found that the primers can detect a wide range of FGFR1 / 2 / 3 gene fusions with high sensitivity and specificity, especially common FGFR1 / 2 / 3 gene fusions. In a further embodiment of the present invention, the primer combination designed in the present invention covers all FGFR1 / 2 / 3 gene fusions, so as to achieve the purpose of detecting all possible FGFR1 / 2 / 3 gene fusions at one time.

[0162] Target gene:

[0163] FGFR1 (NM_001174063): all exons and introns 4, 5, 7, 9, and 17;

[0164] FGFR2 (NM_001144917): all exons and introns 1, 15, and 17;

[0165] FGFR3 (NM_000142): all exons, introns 17, 18 and 3'UTR;

[0166] Probe coverage of the 11th and 14th intron regions of the FGFR3 partner gene TACC3 (NM_006342).

[0167] Local scope: the intron preceding the first e...

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Abstract

The invention relates to FGFR gene fusion probes, a detection method and a kit, and provides a probe combination for detecting human FGFR gene fusion. The probe combination comprises the following probes in a region of all exons and 1<st> intron, 15 intron and 17 intron of FGFR2 (NM_001144917), in a region of all exons, 17 intron, 18 intron and 3'UTR of FGFR3 (NM_000142) and in a region of 11 intron and 14 intron of an FGFR3 chaperone gene TACC3 (NM_006342). The invention also provides a kit for detecting FGFR gene fusion, in particular to a kit for detecting the FGFR gene fusion at a time and an automatic device used for analyzing human gene FGFR gene fusion. The FGFR gene fusion probes, the detection method and the kit are applicable to the detection of a wide range of samples.

Description

technical field [0001] The invention belongs to the field of biological gene detection technology and biological information technology, and specifically relates to the design of capture probes for gene fusion detection, high-throughput sequencing (NGS) experiments, data analysis methods and kits. Background technique [0002] The fibroblast growth factor receptor (FGFR) family mainly includes four types of receptors FGFR1, FGFR2, FGFR3 and FGFR4, which play important roles in angiogenesis, angiogenesis, wound healing and embryonic development. FGFR is a transmembrane protein with an extracellular domain, a transmembrane domain and an intracytoplasmic tyrosine kinase domain. Binding of FGF ligands to FGFRs initiates a cascade of signaling events within the cell. [0003] Mutations in the FGFR gene, including gene fusions, cause a variety of disorders. Gene fusion is a kind of gene variation, which refers to the chimeric gene formed by end-to-end connection of genes at diff...

Claims

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Application Information

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IPC IPC(8): C12Q1/6886C12N15/11
CPCC12Q1/6886C12Q2600/156
Inventor 谢正华李福根熊磊董华李小方周子松
Owner 上海思路迪医学检验所有限公司
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