A comprehensive Triple Repeat Primed PCR (TR-PCR) and a Long-Range PCR (LR-PCR) agarose-based assay for improved genotyping of GAA repeats in Friedreich ’s Ataxia.

Friedreich ’s ataxia (FRDA) is a rare autosomal recessive, neuro-muscular degenerative disease caused by an expansion of a trinucleotide (GAA) repeat in intron 1 of the FXN gene. It is common in the Caucasian population, characterized by progressive gait and limb ataxia, lack of tendon reflexes in the legs, loss of position sense, and hypertrophic cardiomyopathy. Detection and genotyping of the trinucleotide repeat length is important for the diagnosis and prognosis of the disease. A two-tier genotyping assay with an improved triple-repeat primed PCR (TR-PCR) for alleles 200 GAA repeats ( ± 50 repeats) is described.
Source: Journal of Molecular Diagnostics - Category: Pathology Authors: Tags: Regular Article Source Type: research