Case Report: Identification of Maternal Low-Level Mosaicism in the Dystrophin Gene by Droplet Digital Polymerase Chain Reaction.
Case Report: Identification of Maternal Low-Level Mosaicism in the Dystrophin Gene by Droplet Digital Polymerase Chain Reaction.
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DOI：
10.3389/fgene.2021.686993
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发表时间：
2021
影响因子：
3.7
通讯作者：
Dong M
中科院分区：
文献类型：
--
作者：
Jin P;Gao X;Wang M;Qian Y;Yang J;Yang Y;Xu Y;Xu Y;Dong M
当在父母无症状的第二次怀孕中发现相同的新生突变时，应怀疑种系嵌合体。我们的研究旨在寻找一种可行的方法来揭示种系嵌合现象的存在。对杜氏肌营养不良谱系进行多重结扎依赖探针扩增以检测缺失突变。然后用间隙聚合酶链反应扩增断点连接序列。采用液滴数字聚合酶链反应鉴定健康父母的突变频率。在先证者和胎儿中检测到抗肌营养不良蛋白基因外显子51的相同缺失，大小为50035 bp，但在其父母中未发现。外周血样本的微滴数字聚合酶链反应分析显示，母体血细胞中突变等位基因为3.53%。我们在此报告一例母体低水平嵌合体，通过外周血滴数字聚合酶链反应证实，这揭示了种系嵌合体的存在。间隙聚合酶链反应与液滴数字聚合酶链反应相结合，为种系嵌合体的检测提供了新的见解。
Germline mosaicism should be suspected when the same de novo mutations are identified in a second pregnancy with asymptomatic parents. Our study aims to find a feasible approach to reveal the existence of germline mosaicism. Multiplex Ligation-dependent Probe Amplification was performed on a Duchenne muscular dystrophy affected pedigree to detect deletion mutations. Then gap-polymerase chain reaction was performed to amplify the breakpoints junction sequence. Droplet digital polymerase chain reaction was utilized to identify the mutation frequencies in healthy parents. The same deletion in the exon 51 of the dystrophin gene, which was 50,035 bp in size, was detected in the proband and the fetus but not in their parents. Droplet digital polymerase chain reaction analysis of peripheral blood samples revealed mutant alleles of 3.53% in maternal blood cells. We here report a case of maternal low-level mosaicism confirmed by droplet digital polymerase chain reaction in peripheral blood samples, which reveals the existence of germline mosaicism. Gap-polymerase chain reaction combined with droplet digital polymerase chain reaction provide insights into the detection of germline mosaicism.
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