Instability analysis of the expanded GAAs in the <i>FXN</i> gene across different somatic tissues.

Abstract

<p>Genomic DNA was extracted from heart (H), cerebral cortex (Cc), spinal cord (Sc), cerebellar cortex (Cb) and pancreas (P) tissues and the GAA repeats in the <i>FXN</i> locus were amplified by PCR. The results from FRDA patients (<b>A</b>) F2 (<b>B</b>) F7 and (<b>C</b>) M6 shown as examples. (-) represents no-template control and (+) represents positive control for amplification of the expanded GAAs (genomic DNA isolated from fibroblasts obtained from an unrelated FRDA patient). (<b>D-F</b>) A GAA repeat tract at the 5q23 locus was amplified by PCR using the same genomic DNA templates used for reactions shown in (<b>A-C</b>). (<b>G-I</b>) A fragment spanning intron 1—exon 2 of the <i>FXN</i> gene, downstream of the GAA tract, was also amplified using the same templates to serve as a control for genomic DNA quality.</p