Application of droplet digital PCR technology for genetic testing and prenatal diagnosis of spinal muscular atrophy / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>As a rapid, precise and economically efficient method, ddPCR will provide a new choice for genetic testing of SMA.</p>