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filingDate 2020-11-26-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_6687d6cea6147d4c4827a0d6998d9e54
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publicationDate 2021-02-12-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber CN-112359109-A
titleOfInvention Probe sets and kits for detecting alpha-thalassemia and beta-thalassemia-related pathogenic genes
abstract A probe set for detecting alpha thalassemia and beta thalassemia-related pathogenic genes, comprising a first probe set for capturing and detecting HBA1 and HBA2, and a second probe set for capturing and detecting HBB, wherein the first probe The design of the needle set and the second probe set refer to the Hg38/Hg19 version of the human genome, and are oligonucleotide probes. The coverage area of the first probe set is chr16:147743‑185701 according to the Hg38 version, and chr16:197742‑ according to the Hg19 version 235700, the coverage area of the second probe set is chr11:5225597‑5227178 according to the Hg38 version, and chr11:5246827‑5248408 according to the Hg19 version, and a kit is also provided, comprising a first probe set, a second probe set, a rich Collection buffer, hybridization buffer, binding buffer, first washing solution, second washing solution, 0.1M NaOH aqueous solution, 1M Tris-HCl buffer, PCR reaction solution, TE buffer. The probe set provided by the present invention can simultaneously detect HBA1, HBA2 and HBB genes, and can detect all 323 mutation types of α-thalassemia and β-thalassemia currently known.
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