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

8 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

Fingerprint

Machado-Joseph Disease
Trinucleotide Repeat Expansion
Spinocerebellar Ataxias
Huntington Disease
Oligonucleotides
Ligation
Control Groups
Population

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

The repeat expansion detection method in the analysis of diseases with CAG/CTG repeat expansion : Usefulness and limitations. / Martorell, Lourdes; Pujana, Miguel Angel; Volpini, Victor; Sanchez, Aurora; Joven, Jorge; Vilella, Elisabet; Estivill, Xavier P.

In: Human Mutation, Vol. 10, No. 6, 1997, p. 486-488.

Research output: Contribution to journalArticle

Martorell, Lourdes ; Pujana, Miguel Angel ; Volpini, Victor ; Sanchez, Aurora ; Joven, Jorge ; Vilella, Elisabet ; Estivill, Xavier P. / The repeat expansion detection method in the analysis of diseases with CAG/CTG repeat expansion : Usefulness and limitations. In: Human Mutation. 1997 ; Vol. 10, No. 6. pp. 486-488.
@article{c8b5d029556a421cb3fbeb0dfcaa2ccb,
title = "The repeat expansion detection method in the analysis of diseases with CAG/CTG repeat expansion: Usefulness and limitations",
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.",
keywords = "Huntington's disease, Machado Joseph's disease, Repeat expansion detection, Spinocerebellar ataxia type 1",
author = "Lourdes Martorell and Pujana, {Miguel Angel} and Victor Volpini and Aurora Sanchez and Jorge Joven and Elisabet Vilella and Estivill, {Xavier P.}",
year = "1997",
doi = "10.1002/(SICI)1098-1004(1997)10:6<486::AID-HUMU11>3.0.CO;2-W",
language = "English",
volume = "10",
pages = "486--488",
journal = "Human Mutation",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
number = "6",

}

TY - JOUR

T1 - The repeat expansion detection method in the analysis of diseases with CAG/CTG repeat expansion

T2 - Usefulness and limitations

AU - Martorell, Lourdes

AU - Pujana, Miguel Angel

AU - Volpini, Victor

AU - Sanchez, Aurora

AU - Joven, Jorge

AU - Vilella, Elisabet

AU - Estivill, Xavier P.

PY - 1997

Y1 - 1997

N2 - 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.

AB - 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.

KW - Huntington's disease

KW - Machado Joseph's disease

KW - Repeat expansion detection

KW - Spinocerebellar ataxia type 1

UR - http://www.scopus.com/inward/record.url?scp=0030780066&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0030780066&partnerID=8YFLogxK

U2 - 10.1002/(SICI)1098-1004(1997)10:6<486::AID-HUMU11>3.0.CO;2-W

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

M3 - Article

C2 - 9401013

AN - SCOPUS:0030780066

VL - 10

SP - 486

EP - 488

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 6

ER -