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

Lourdes Martorell, Miguel Angel Pujana, Victor Volpini, Aurora Sanchez, Jorge Joven, Elisabet Vilella, Xavier P. Estivill

Research output: Contribution to journalArticle

9 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)486-488
Number of pages3
JournalHuman Mutation
Volume10
Issue number6
DOIs
Publication statusPublished - 1997
Externally publishedYes

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Keywords

  • Huntington's disease
  • Machado Joseph's disease
  • Repeat expansion detection
  • Spinocerebellar ataxia type 1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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