High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis

ConclusionWe demonstrate that robust detection of expanded CTG repeats in a single tube can be achieved from samples derived from specimens with minimal template DNA such as dried blood spots (DBS). This technique is readily adaptable to large ‐scale testing programs such as population studies and newborn screening programs.

Source: Molecular Genetics & Genomic Medicine - February 24, 2021 Category: Genetics & Stem Cells Authors: Russell J. Butterfield, Carina Imburgia, Katie Mayne, Tara Newcomb, Diane M. Dunn, Brett Duval, Marcia L. Feldkamp, Nicholas E. Johnson, Robert B. Weiss Tags: METHOD Source Type: research