Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia-Reference-Cited by-同舟云学术

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

Published:2011-03 Issue:3 Volume:50 Page:182-186
ISSN:0736-6205
Container-title:BioTechniques
language:en
Short-container-title:BioTechniques

Author:

Holloway Timothy P.¹²,Rowley Simone M.¹,Delatycki Martin B.¹³⁴,Sarsero Joseph P.¹²³

Affiliation:

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

2. Cell and Gene Therapy, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia

3. Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia

4. Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia

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 asess the purity of GAA repeat sequences.

Publisher

Future Science Ltd

Subject

General Biochemistry, Genetics and Molecular Biology,Biotechnology

Link

https://www.future-science.com/doi/pdf/10.2144/000113615

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1. A new FRDA mouse model [Fxnnull:YG8s(GAA) > 800] with more than 800 GAA repeats;Frontiers in Neuroscience;2023-01-26

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5. Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia;neurogenetics;2020-07-07