Mukerji, M and Choudhry, S and Saleem, Q and Padma, MV and Maheshwari, MC and Jain, S (2000) Molecular analysis of Friedreich's ataxia locus in the Indian population. In: Acta Neurologica Scandinavica, 102 (4). pp. 227-229.
Full text not available from this repository. (Request a copy)Abstract
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion of GAA repeats in the frataxin gene. We have carried out the first molecular analysis at the Friedreich's ataxia locus in the Indian population. Materials and methods - Three families clinically diagnosed for Friedreich's ataxia were analyzed for GAA expansion at the FRDA locus. The distribution of GAA repeats was also estimated in normal individuals of Indian origin. Results - All patients clinically diagnosed for Friedreich's ataxia were found to be homozygous for GAA repeat expansion. The GAA repeat in the normal population show a bimodal distribution with 94% of alleles ranging from 7-16 repeats. Conclusion - Indian patients with expansion at the FRDA locus showed typical clinical features of Friedreich's ataxia. The low frequency of large normal alleles (6%) could indicate that the prevalence of this disease in the Indian population is likely to be low.
| Item Type: | Journal Article |
|---|---|
| Publication: | Acta Neurologica Scandinavica |
| Publisher: | John Wiley & Sons |
| Additional Information: | Copyright of this article belongs to John Wiley & Sons. |
| Department/Centre: | Division of Biological Sciences > Molecular Biophysics Unit |
| Date Deposited: | 09 Aug 2010 09:20 |
| Last Modified: | 09 Aug 2010 09:20 |
| URI: | http://eprints.iisc.ac.in/id/eprint/31070 |
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