Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia

Timothy P Holloway; Simone M Rowley; Martin B Delatycki; Joseph P Sarsero

doi:10.2144/000113615

Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia

Biotechniques. 2011 Mar;50(3):182-6. doi: 10.2144/000113615.

Authors

Timothy P Holloway¹, Simone M Rowley, Martin B Delatycki, Joseph P Sarsero

Affiliation

¹ Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

PMID: 21486239
DOI: 10.2144/000113615

Abstract

Friedreich ataxia is a neurodegenerative disorder caused by the expansion of a GAA trinucleotide repeat sequence within the first intron of the FXN gene. Interruptions in the GAA repeat may serve to alleviate the inhibitory effects of the GAA expansion on FXN gene expression and to decrease pathogenicity. We have developed a simple and rapid PCR- and restriction enzyme-based assay to assess the purity of GAA repeat sequences.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
Deoxyribonucleases, Type II Site-Specific / metabolism
Frataxin
Friedreich Ataxia / genetics*
Humans
Iron-Binding Proteins / genetics*
Polymerase Chain Reaction / economics
Polymerase Chain Reaction / methods*
Trinucleotide Repeat Expansion*

Substances

Iron-Binding Proteins
endodeoxyribonuclease MboII
Deoxyribonucleases, Type II Site-Specific