The repeat expansion detection method in the analysis of diseases with CAG/CTG repeat expansion: usefulness and limitations

Hum Mutat. 1997;10(6):486-8. doi: 10.1002/(SICI)1098-1004(1997)10:6<486::AID-HUMU11>3.0.CO;2-W.

Abstract

The repeat expansion detection (RED) method was described to detect expansions of trinucleotide repeats of unknown chromosomal location. We have improved the RED method by the use of 8-mer oligonucleotides and assessed its usefulness in 30 samples from patients with spinocerebellar ataxia type 1 (SCA1), Huntington's disease (HD), and Machado Joseph's disease (MJD), for which the number of CAG/CTG repeats was determined by sequencing. There was a good correlation between the number of repeats detected by sequencing and those identified by RED. However, in 17% of samples, the RED gave additional fragments for ligation products of different size than the CAG/CTG repeat expansion detected in the sample by sequencing. The same was observed in a group of control subjects (n = 78) without known clinical abnormalities in which products of more than 40 repeats were detected in 27% of them, indicating that CAG/CTG repeat expansions are common in the general population. Wether this corresponds to unidentified loci with expansions deserves further investigation.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA / analysis
  • DNA Mutational Analysis / methods*
  • Humans
  • Huntington Disease / genetics*
  • Machado-Joseph Disease / genetics*
  • Oligonucleotides
  • Polymorphism, Genetic
  • Spinocerebellar Degenerations / genetics*
  • Trinucleotide Repeats / genetics*

Substances

  • Oligonucleotides
  • DNA