Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia.
نویسندگان
چکیده
Friedreich ataxia is a neurodegenerative disorder caused by the expansion of a GAA trinucleotide repeat sequence within the first intron of the FXN gene. Interruptions in the GAA repeat may serve to alleviate the inhibitory effects of the GAA expansion on FXN gene expression and to decrease pathogenicity. We have developed a simple and rapid PCR- and restriction enzyme-based assay to assess the purity of GAA repeat sequences.
منابع مشابه
Molecular and Clinical Investigation of Iranian Patients with Friedreich Ataxia
Background: Friedreich ataxia (FRDA) is an autosomal recessive disorder caused by guanine-adenine-adenine (GAA) triplet expansions in the FXN gene. Its product, frataxin, which severely reduces in FRDA patients, leads to oxidative damage in mitochondria. The purpose of this study was to evaluate the triple nucleotide repeated expansions in Iranian FRDA patients and to elucidate distinguishable ...
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ورودعنوان ژورنال:
- BioTechniques
دوره 50 3 شماره
صفحات -
تاریخ انتشار 2011