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Molecular Diagnosis of Friedreich Ataxia Using Analysis of GAA Repeats and FXN Gene Exons in Population from Western India
Joint Authors
Raghu, Aarthy
Potdar, Pravin D.
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-09-19
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
The diagnosis of Friedreich ataxia is based on the clinical symptoms and GAA repeats expansions.
In our experience, checking FXN gene exons for mutations along with GAA repeat analysis may give better clue for its diagnosis.
In the present study, total 49 suspected Friedreich ataxia patients were analyzed for GAA repeat expansion.
Eleven patients have normal number of GAA repeats, thereby termed as FRDA negative patients.
Thirty-eight patients showed no amplification using GAA repeat analysis.
Since no conclusion was possible based on these results, these patients were designated as uninformative.
We have analyzed 5 exons of the FXN gene in FRDA negative and uninformative patients to check for possible mutations.
It was observed that there were no mutations found in any of FRDA negative and most uninformative patients.
We further used long range PCR to check for deletion of exon 5a.
It was found that 18 patients showed expression for exon 5a PCR but none in long range PCR.
Five patients showed no expression for exon 5a PCR as well as long range PCR indicating that these 5 patients may be positive FRDA patients.
These findings need to be correlated with clinical history of these patients for confirmation.
American Psychological Association (APA)
Potdar, Pravin D.& Raghu, Aarthy. 2013. Molecular Diagnosis of Friedreich Ataxia Using Analysis of GAA Repeats and FXN Gene Exons in Population from Western India. Asian Journal of Neuroscience،Vol. 2013, no. 2013, pp.1-6.
https://search.emarefa.net/detail/BIM-507349
Modern Language Association (MLA)
Potdar, Pravin D.& Raghu, Aarthy. Molecular Diagnosis of Friedreich Ataxia Using Analysis of GAA Repeats and FXN Gene Exons in Population from Western India. Asian Journal of Neuroscience No. 2013 (2013), pp.1-6.
https://search.emarefa.net/detail/BIM-507349
American Medical Association (AMA)
Potdar, Pravin D.& Raghu, Aarthy. Molecular Diagnosis of Friedreich Ataxia Using Analysis of GAA Repeats and FXN Gene Exons in Population from Western India. Asian Journal of Neuroscience. 2013. Vol. 2013, no. 2013, pp.1-6.
https://search.emarefa.net/detail/BIM-507349
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-507349