Objective To explore important value of copy number variation sequencing(CNV-seq)technology in identifying Duchenne muscular dystrophy(DMD)in prenatal diagnosis and abortus detection.Methods The amniotic fluid and abortus samples of 784 pregnant women who received prenatal diagnosis in our hospital from September 2019 to July 2020 were examined using CNV-seq technology,and those samples with DMD gene variations were validated further by multiplex ligation-dependent probe amplification(MLPA).Results DMD gene deletions or duplication in three samples were accidentally discovered,and they were all validated by MLPA.All three samples were female fetuses.The Fetus 1 had duplication of exons 64-79 of the DMD gene and the fetus 2 had duplication of exons 1-7 of the DMD gene.The variations of the DMD gene in the two amniotic fluid samples were De novo(novel)mutations.The variation of the DMD gene in aborted fetus 3 was deletion of exons 45-51 of the DMD gene which inherited from the mother.Conclusion Application of CNV-seq technology in prenatal diagnosis and abortus examination can not only detect deletion or duplication of chromosome segments,but also contribute to identification of monogenic diseases caused by gene duplication or deletions,which improves detection rate of chromosome or gene abnormalities,and thus provides more comprehensive theoretical basis for clinical diagnosis and genetic consultation.
关键词
全基因组拷贝数变异测序技术/Duchenne型肌营养不良症/产前诊断/流产物
Key words
copy number variation sequencing/Duchenne muscular dystrophy/prenatal diagnosis/abortus
维普
万方数据