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[Application of droplet digital PCR for non-invasive prenatal diagnosis of single gene disease in two families].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2018

Xu Peiwen, Zou Yang, Li Jie, Huang Sexin, Gao Ming, Kang Ranran, Xie Hongqiang, Wang Lijuan, Yan Junhao, Gao Yuan

Abstract excerpt

OBJECTIVE: To assess the value of droplet digital PCR (ddPCR) for non-invasive prenatal diagnosis of single gene disease in two families. METHODS: Paternal mutation in cell-free DNA derived from the maternal blood and amniotic fluid DNA was detected by ddPCR. Suspected mutation in the amniotic fluid DNA was verified with Sanger sequencing. RESULTS: The result of ddPCR and Sanger sequencing indicated that the...

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Identifiers

PMID: 29652997
DOI: 10.3760/cma.j.issn.1003-9406.2018.02.017

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