Capillary electrophoresis of polymerase chain reaction-amplified products in polymer networks: the case of Kennedy's disease

Electrophoresis. 1994 May;15(5):644-6. doi: 10.1002/elps.1150150190.

Abstract

In Kennedy disease (an X-linked motoneuronal disorder associated with an increase in the number of (CAG)n triplet repeats in the first exon of the Androgen receptor gene; about twice as many as in normal conditions), polymerase chain reaction-amplified genic products exhibit two DNA fragments in the heterozygous female carriers, one with a range between 468 and 495 bp in the normal polymorphic population and a fragment corresponding to the pathological state that reaches 573 bp. These fragments are easily separated by gel-slab electrophoresis and detected by intercalating dye staining (ethidium bromide). As an alternative procedure, capillary zone electrophoresis in polymer networks, consisting of 8% polyacryloylaminoethoxyethanol at 0% cross-linker, offers a simple procedure for separation and on-line detection via UV absorbance at 254 nm, thus avoiding additional staining steps. The capillary column can be repeatedly used for up to 80-100 times and the electropherogram is stored on a magnetic support. Easy comparison among different runs is obtained by aligning all tracings to an internal standard of a 650 bp fragment added as a marker.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acrylic Resins*
  • Electrophoresis, Polyacrylamide Gel / methods*
  • Female
  • Genetic Code
  • Humans
  • Male
  • Muscular Atrophy, Spinal / diagnosis
  • Muscular Atrophy, Spinal / genetics*
  • Polymerase Chain Reaction
  • Receptors, Androgen / genetics
  • Repetitive Sequences, Nucleic Acid

Substances

  • Acrylic Resins
  • Receptors, Androgen
  • poly(N-acryloylaminoethoxyethanol)

Grants and funding