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Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia.
Biotechniques. 2011 Mar; 50(3):182-6.B

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.

Authors+Show Affiliations

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

21486239

Citation

Holloway, Timothy P., et al. "Detection of Interruptions in the GAA Trinucleotide Repeat Expansion in the FXN Gene of Friedreich Ataxia." BioTechniques, vol. 50, no. 3, 2011, pp. 182-6.
Holloway TP, Rowley SM, Delatycki MB, et al. Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia. Biotechniques. 2011;50(3):182-6.
Holloway, T. P., Rowley, S. M., Delatycki, M. B., & Sarsero, J. P. (2011). Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia. BioTechniques, 50(3), 182-6. https://doi.org/10.2144/000113615
Holloway TP, et al. Detection of Interruptions in the GAA Trinucleotide Repeat Expansion in the FXN Gene of Friedreich Ataxia. Biotechniques. 2011;50(3):182-6. PubMed PMID: 21486239.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia. AU - Holloway,Timothy P, AU - Rowley,Simone M, AU - Delatycki,Martin B, AU - Sarsero,Joseph P, PY - 2010/11/10/received PY - 2011/01/06/accepted PY - 2011/4/14/entrez PY - 2011/4/14/pubmed PY - 2011/8/4/medline SP - 182 EP - 6 JF - BioTechniques JO - Biotechniques VL - 50 IS - 3 N2 - 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. SN - 1940-9818 UR - https://www.unboundmedicine.com/medline/citation/21486239/Detection_of_interruptions_in_the_GAA_trinucleotide_repeat_expansion_in_the_FXN_gene_of_Friedreich_ataxia_ DB - PRIME DP - Unbound Medicine ER -