Zou Yang, Xu Peiwen, Li Jie, Huang Sexin, Gao Ming, Kang Ranran, Gao Xuan, Gao Yuan
Center for Reproductive Medicine, Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, The Key Laboratory for Reproductive Endocrindogy of Ministry of Education, Jinan, Shandong 250000, China. Email:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Oct;33(5):594-7. doi: 10.3760/cma.j.issn.1003-9406.2016.05.002.
To explore the clinical application of droplet digital PCR (ddPCR) for genetic testing and prenatal diagnosis of spinal muscular atrophy (SMA) with deletion of SMN1 gene exon 7.
A total of 138 clinical samples, including 121 peripheral blood, 13 amniotic fluid, 2 umbilical cord blood and 2 chorionic villi from 56 SMA families, were tested by both ddPCR and multiplex ligation-dependent probe amplification (MLPA). Results of the two approaches were analyzed with commercial software QuantaSoft (ddPCR) and Coffalyser (MLPA), respectively.
Among the 138 cases, 25 had two copies, 84 had one copy, and 29 had null copy of exon 7 of the SMN1 gene. The results of ddPCR and MLPA were completely consistent.
As a rapid, precise and economically efficient method, ddPCR will provide a new choice for genetic testing of SMA.
探讨液滴数字PCR（ddPCR）在脊髓性肌萎缩症（SMA）伴SMN1基因第7外显子缺失的基因检测及产前诊断中的临床应用。
对来自56个SMA家庭的138份临床样本进行检测，其中包括121份外周血、13份羊水、2份脐带血和2份绒毛膜绒毛，同时采用ddPCR和多重连接依赖探针扩增技术（MLPA）进行检测。分别使用商业软件QuantaSoft（ddPCR）和Coffalyser（MLPA）分析两种方法的结果。
在138例样本中，25例有两个拷贝，84例有一个拷贝，29例SMN1基因第7外显子拷贝数为零。ddPCR和MLPA的结果完全一致。
作为一种快速、精确且经济高效的方法，ddPCR将为SMA的基因检测提供新的选择。
