Login / Signup

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

Russell J ButterfieldCarina ImburgiaKatie MayneTara NewcombDiane M DunnBrett DuvalMarcia L FeldkampNicholas E JohnsonRobert B Weiss
Published in: Molecular genetics & genomic medicine (2021)
We 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.
Keyphrases
  • public health
  • circulating tumor
  • early onset
  • deep brain stimulation
  • single molecule
  • cell free
  • label free
  • loop mediated isothermal amplification
  • case control
  • nucleic acid
  • muscular dystrophy
  • ultrasound guided