%0 Journal Article
%T Carrier screening for spinal muscular atrophy with a simple test based on melting analysis
%J -
%D 2019
%R https://doi.org/10.1038/s10038-019-0576-6
%X Carrier screening of spinal muscular atrophy (SMA) can provide reproductive options for carriers and prevent the birth defects. Here, we developed a simple screening test based on melting analysis. The test comprises a duplex PCR with two primer pairs and three probes to simultaneous amplify SMN1, SMN2, and CFTR. By analyzing the melting profiles, we were able to determine the SMN1/SMN2 ratio and SMN1£¿+£¿SMN2 copy number to subsequently determine the copy number of SMN1. Samples with one copy of SMN1 were considered as ¡°high risk for carrier,¡± while samples with ¡Ý2 copies of SMN1 were considered as ¡°low risk for carrier.¡± We evaluated the clinical performance of this test using 215 clinical samples with various genotypes that had been previously confirmed by multiplex ligation-dependent probe amplification (MLPA). The test showed high sensitivity (100%) and specificity (97.1%) as well as high positive (97.3%) and negative (100%) predictive value, and was in perfect agreement with the gold standard test, MLPA (k£¿=£¿0.97). Moreover, it is rapid, inexpensive, and easy to perform and automate, with high reproducibility and capacity. Therefore, we expect this test will advance carrier screening for SMA
%U https://www.nature.com/articles/s10038-019-0576-6