Abstract
Friedreich's ataxia is the most common form of hereditary ataxia with autosomal recessive pattern. More than 96% of patients are homozygous for GAA repeat extension on both alleles in the first intron of FXN gene and the remaining patients have been shown to be heterozygous for a GAA extension in one allele and point mutation in other allele. In this study, exons of 1, 2, 3, and 5 of frataxin gene were searched by single strand conformation polymorphism polymerase chain reaction (PCR-SSCP) in 5 patients with GAA extension in one allele. For detection of exact mutation, samples with band shifts were sent for DNA sequencing. Three novel point mutations were found in patients heterozygous for the GAA repeat expansion, p.S81A, p.Y123D, and p.S192C. Our results showed that these point mutations in one allele with GAA extension in another allele are associated with FRDA signs. Thus, these results emphasize the importance of performing molecular genetic analysis for point mutations in FRDA patients.
Published Version
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