Method and oligonucleotide for detecting fgfr3 G380R site mutation

An oligonucleotide and site mutation technology, which is applied in the field of highly sensitive detection of gene FGFR3G380R site mutation, can solve the problem of long distance between reporter fluorophore and quencher fluorophore, failure to recognize double-stranded DNA sequence, fluorescence quenching Incomplete extinction and other problems, to achieve the effect of long detection cycle, short detection cycle, simplified design and cost
CN103789416BActive Publication Date: 2015-09-23杭州艾迪康医学检验中心有限公司
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Patent Information

Authority / Receiving Office
CN · China
Patent Type
Patents(China)
Current Assignee / Owner
杭州艾迪康医学检验中心有限公司
Publication Date
2015-09-23

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Abstract

The invention discloses a method and oligonucleotide for detecting FGFR3 gene G380R site mutation, and relates to a pair of specific amplification primers SEQ NO 1 and SEQ NO 2, and a pair of specific detection probes SEQ NO 3 and SEQ NO 4. By adopting the method and oligonucleotide, congenital achondroplasia can be rapidly diagnosed and identified, and the method and oligonucleotide have the advantages of being short in detection cycle, good in specificity, high in accuracy, high in sensitivity, less in condition dependence, low in pollution risk and the like.
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Description

technical field

[0001] The invention belongs to the field of gene mutation detection, in particular to a method and oligonucleotide for highly sensitive detection of gene FGFR3G380R site mutation. Background technique

[0002] Fibroblast growth factor receptor 3 (FGFR3), belonging to the fibroblast growth factor receptors (FGFRs) family, is a transmembrane protein that regulates development and other functions, and plays an important role in bone development . The FGFR3 gene is located on human chromosome 4p1613 and contains 806 amino acid residues. It is a tyrosine kinase receptor and consists of an extracellular ligand-binding region modified by glycosylation, a hydrophobic transmembrane region and a Composition of the catalytic domain of intracellular tyrosine kinases. The FGFR3 gene is about 1615kb in length, with 19 exons and 18 introns, of which the 10th exon encodes the transmembrane region of FGFR3.

[0003] Achondroplasia (ACH) is a common hereditary disease of t...

Claims

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