http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-106319079-B

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classificationCPCInventive http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6858
classificationIPCInventive http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-11
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6858
filingDate 2016-10-26-04:00^^<http://www.w3.org/2001/XMLSchema#date>
grantDate 2019-12-10-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationDate 2019-12-10-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber CN-106319079-B
titleOfInvention Method for detecting 22q11.2 copy number loss
abstract The invention relates to a method for detecting 22q11.2 copy number deletion by using limited dNTP competitive PCR combined HRM technology, which comprises the step of detecting CLTCL1, SNAP29, KLHL22, PI4KA and CFTR genes. The invention also provides a primer combination and a kit related to the method. Its advantages are: the operation is simple, convenient and quick, only the PCR reaction and the subsequent HRM analysis process are included, and the detection period is shortened; the closed-tube operation is realized, and because the fluorescent dye is added in the PCR reaction, the HRM curve analysis can be carried out without other treatment after the amplification of the detection fragment is finished, thereby effectively avoiding pollution; only conventional PCR reagents and a small amount of fluorescent dye are needed in the reaction, and special detection and analysis instruments are not needed; the test on the control samples of 99 patients and normal people shows that the sensitivity and specificity reach 100 percent, and the stability and accuracy of the system are verified.
priorityDate 2016-10-26-04:00^^<http://www.w3.org/2001/XMLSchema#date>
type http://data.epo.org/linked-data/def/patent/Publication

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