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The use of long-range pcr protocol in the diagnosis of friedreich ataxia

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dc.contributor.authorALAVANDA, CEREN
dc.contributor.authorPOLAT, HAMZA
dc.contributor.authorSÖYLEMEZ, MEHMET ALİ
dc.contributor.authorGEÇKİNLİ, BİLGEN BİLGE
dc.contributor.authorATA, PINAR
dc.contributor.authorARMAN, AHMET
dc.contributor.authorsALAVANDA C., POLAT H., DEMİR Ş., ARSLAN ATEŞ E., SÖYLEMEZ M. A., GEÇKİNLİ B. B., ATA P., ARMAN A.
dc.date.accessioned2023-03-07T06:11:54Z
dc.date.available2023-03-07T06:11:54Z
dc.date.issued2020-11-22
dc.description.abstractIntroduction: 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.
dc.identifier.citationALAVANDA 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
dc.identifier.startpage15
dc.identifier.urihttps://medicaljournal.gazi.edu.tr/index.php/GMJ/article/view/2914/2230
dc.identifier.urihttps://hdl.handle.net/11424/287218
dc.language.isoeng
dc.relation.ispartof14. Ulusal Tıbbi Genetik Kongresi (Uluslararası Katılımlı)
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.subjectFXN
dc.subjectLong-range
dc.titleThe use of long-range pcr protocol in the diagnosis of friedreich ataxia
dc.typeconferenceObject
dspace.entity.typePublication
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