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filingDate 2016-12-29-04:00^^<http://www.w3.org/2001/XMLSchema#date>
grantDate 2019-08-13-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationDate 2019-08-13-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber CN-108277267-B
titleOfInvention Devices for detecting genetic mutations and kits for genotyping pregnant women and fetuses
abstract The invention discloses a device for detecting gene mutation and a kit for genotyping pregnant women and fetuses. The device includes: a detection module, a comparison module, a target mixed genotype determination module and a mutation site screening module. Through the detection module and the comparison module, the SNP sites in the maternal and fetal genome information that are different from the reference genome are obtained, and the mixed genotype of the pseudotetraploid composed of the pregnant woman and the fetus is determined by using the target mixed genotype determination module. Genotyping to obtain the genotypes of the mother and the fetus at each SNP site, so that all possible genetic mutations in the fetus can be detected using only the peripheral blood sample of the pregnant woman. The device does not require separate sequencing of the samples from the father or the mother, and realizes that all possible genetic mutations of the fetus can be detected only by using the sequencing data of the peripheral blood of the pregnant woman, providing convenient and diversified services for fetal genetic testing. .
priorityDate 2016-12-29-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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