Detection of Interruptions in the GAA Trinucleotide Repeat Expansion in the FXN Gene of Friedreich Ataxia | Zendy

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

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Detection of Interruptions in the GAA Trinucleotide Repeat Expansion in the FXN Gene of Friedreich Ataxia

Author(s) -

Timothy P. Holloway,

Simone M. Rowley,

Martin B. Delatycki,

Joseph P. Sarsero

Publication year - 2011

Publication title -

biotechniques

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.617

H-Index - 131

eISSN - 1940-9818

pISSN - 0736-6205

DOI - 10.2144/000113615

Subject(s) - trinucleotide repeat expansion , ataxia , frataxin , gene , genetics , biology , intron , mutation , microbiology and biotechnology , allele , neuroscience , iron binding proteins

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.

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