Publication: The use of long-range pcr protocol in the diagnosis of friedreich ataxia
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Date
2020-11-22
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Abstract
Introduction: Friedreich ataxia(FRDA) is multisystemic disorder characterized by trinucleotide expansions in FXN gene. It’s one
of the most common causes of autosomal recessive ataxia.
Material/Method: Fragment analysis method was used to detect GAA triple nucleotide repeat expansions in the first intron of
the FXN gene. Long-range PCR was performed with primers selected from both in intron and exon for confirmation in patients
with more than two hundred repeats.
Results: Fragment analysis was performed in 20 patients with FRDA pre-diagnosis. Long-range PCR was performed in 5 patients
with more than 200 GAA repeats. After long-range PCR, the number of repetitions between 180 and 1450 was found in these
patients. One allele of two siblings whose fragment analysis gave negative results was found to have an approximately 950
repeats. FXN gene sequence analysis was planned in order not to miss point mutations in patients with negative results. In order
to provide appropriate genetic counseling to patients, segregation studies are continuing.
Discussion: Although fragment analysis is reliable method in this disease, its reliability decreases when the number of repeats
is high. Although Southern-blot method can be used for confirmation, long-range PCR protocols which are cheaper and easier,
can also be applied.
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Keywords
FXN, Long-range
Citation
ALAVANDA C., POLAT H., DEMİR Ş., ARSLAN ATEŞ E., SÖYLEMEZ M. A., GEÇKİNLİ B. B., ATA P., ARMAN A., \"The Use of Long-Range PCR Protocol in the Diagnosis of Friedreich Ataxia\", 14. Ulusal Tıbbi Genetik Kongresi (Uluslararası Katılımlı), Türkiye, 20 Kasım 2020