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

✍ Scribed by Lourdes Martorell; Miguel Angel Pujana; Victor Volpini; Aurora Sanchez; Jorge Joven; Elisabet Vilella; Xavier Estivill

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 138 KB
Volume: 10
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1997)10:6<486::aid-humu11>3.0.co;2-w

No coin nor oath required. For personal study only.

✦ Synopsis

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.

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