http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-111363798-A

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classificationCPCInventive http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6858
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filingDate 2018-12-26-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_efaa2ab82649bf5b0bb7c296bf3c880d
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_aeabfe6c5236ab488cbbe0826ac5327b
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publicationDate 2020-07-03-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber CN-111363798-A
titleOfInvention Kit for detecting L192V mutation of VPS16 gene
abstract The invention discloses a kit for detecting L192V mutation of a VPS16 gene, belonging to the technical field of biotechnology and clinical molecular diagnosis. The invention discovers that the L192V mutation of the VPS16 gene can cause the generation of the Parkinson disease, and the etiology of the Parkinson disease can be diagnosed by detecting the L192V mutation of the VPS16 gene. The method based on the kit is a peptide PNA fluorescent probe method used by combining a PCR method, and mainly comprises a forward primer for specifically amplifying the L192V mutation of the VPS16 gene and a reverse PNA fluorescent probe primer complementary with the L192V mutation of the VPS16 gene, wherein the sequences of the primers are respectively shown as SEQ ID No.1 and SEQ ID No. 2. The kit provided by the invention has the advantages of simple experimental operation, low cost, good result repeatability and good sensitivity, and is an important means for diagnosing the genetic etiology of the Parkinson's disease and carrying out basic scientific research.
priorityDate 2018-12-26-04:00^^<http://www.w3.org/2001/XMLSchema#date>
type http://data.epo.org/linked-data/def/patent/Publication

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