http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-108588216-B
Outgoing Links
Predicate | Object |
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classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C07K14-47 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C07K14-49 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-686 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6869 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6858 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 |
classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6869 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-11 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883 |
filingDate | 2017-02-09-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
grantDate | 2021-09-28-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationDate | 2021-09-28-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber | CN-108588216-B |
titleOfInvention | Human IBGC pathogenic gene PDGFRB with mutation at site 3 and detection method thereof |
abstract | The invention relates to a human IBGC pathogenic gene PDGFRB with a mutation at the 3 rd site, the nucleotide sequence of which is shown as SEQ ID NO.2, in particular to a wild type gene with the 3 rd site G mutated into A. The pathogenic gene form provided by the invention is not reported, and can provide basis and lay the foundation for the analysis of pathogenic mechanism of the disease, the development of medicine, the screening and detection of pathogenic gene, the formulation of treatment scheme and the like. Meanwhile, the invention constructs a method for detecting the pathogenic gene, which comprises the following steps: firstly, capturing a pathogenic gene exon region by utilizing multiplex PCR, then carrying out second-generation sequencing on the pathogenic gene exon region, finding out mutation through information analysis, and finally verifying the mutation by utilizing Sanger sequencing; wherein the PCR capture primer group comprises amplification primer sequences SEQ ID NO.12-23, and the amplification primer sequences of the Sanger sequencing fragments are shown as SEQ ID NO. 26-27. The detection method can efficiently, comprehensively, quickly and accurately acquire mutation information. |
priorityDate | 2017-02-09-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 43.