High Throughput Screening for Expanded CTG repeats in Myotonic Dystrophy Type 1 Using Melt Curve Analysis
Russell J. Butterfield, Carina E. Imburgia, Katie Mayne, Tara M. Newcomb, Diane Marie Dunn, Brett Duval, Marcia L. Feldkamp, Nicholas Elwood Johnson, Robert B. Weiss
The paper develops a high throughput, low-cost method for detecting CTG repeat expansions in DM1 using TP-PCR and melt curve analysis, showing accurate identification of alleles in newborn blood spots.
Molecular Genetics & Genomic Medicine · Feb 24, 2021Peer-reviewedGenetic & Genomic Medicine