Specific probe for JAK2 gene mutation detection and detection method

Abstract

The invention relates to the technical field of biology, in particular to a specific probe for JAK2 gene mutation detection and a detection method, and the specific probe is composed of a nucleotide chain containing two fragments; a first fragment, all or part of which has a recognition sequence for molecular recognition of a target nucleic acid; and the second fragment comprises but is not limited to C3 Spacer, C6 Spacer, C12 Spacer, Spacer 9 or Spacer 18. Compared with the prior art, the specific probe for JAK2 gene mutation detection and the detection method provided by the invention have the advantages that the probe specifically combined with a wild type gene sequence is designed, and amplification of the wild type sequence is inhibited, so that selective amplification and enrichment of a mutant type sequence are realized; the sequencing sensitivity of a Sanger sequencing method can be improved from about 20% at present to about 0.5%-1%, and the detection rate of JAK2 gene mutation is improved.

Description

technical field [0001] The invention relates to the field of biotechnology, in particular to a specific probe and a detection method for JAK2 gene mutation detection. Background technique [0002] Myeloproliferative neoplasms are a heterogeneous group of malignancies derived from clonal hematopoietic stem cells, characterized by hyperproliferation of one or more lineages of the bone marrow, in which BCR-ABL1 gene-negative MPNs include polycythemia vera (PV) , essential thrombocythemia (ET) and primary myelofibrosis (PMF). JAK2 is a non-receptor tyrosine kinase and one of the members of the JAKs protein (Janus kinases) family. It mediates the intracellular signal transduction of cytokines through the JAK-STAT signaling pathway, and plays a role in the proliferation and differentiation of hematopoietic stem cells. played an important role. Studies have shown that the JAK2 gene V617F activating mutation exists in about 97% of PV patients, 50-60% of ET patients and 50% of PMF ...

AI Technical Summary

Problems solved by technology

[0005] In view of the deficiencies of the above-mentioned background technology, the present invention provides a specific probe and detection method for JAK2 gene mutation detection, which solves the problem of low sensitivity of the traditional Sanger sequencing method and low detection rate of gene mutation

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