alexa Molecular Analysis of CTG/CTA Repeats at SCA8 Locus in
ISSN: 2329-6895


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Research Article

Molecular Analysis of CTG/CTA Repeats at SCA8 Locus in South Indian Population

Waseem Gul Lone1,2, Subhadra Poornima3, Kaipa Prabhakar Rao2, Angmuthu Kanikannan Meena4 and Qurratulain Hassan3*
1Department of Genetics, Mahaveer Hospitals, AC Guard, Hyderabad-500 004, India
2Department of Genetics, Osmania University Hyderabad, 500 007, India
3Department of Genetics and Molecular Medicine, Kamineni Hospitals, LB Nagar, Hyderabad-500 068, India
4Department of Neurology, Nizam’s Institute of Medical Sciences, Panjagutta, Hyderabad, India
Corresponding Author : Quratulain Hassan
Senior Consultant
Kamineni Hospitals
LB Nagar, Hyderabad-500 068, India
Tel: +91-40-39879999, Ext 210
Fax: 091-040-24022277
E-mail: [email protected]
Received May 14, 2014; Accepted August 26, 2014; Published September 02, 2014
Citation: Lone WG, Poornima S, Rao KP, Meena AK, Hassan Q (2014) Molecular Analysis of CTG/CTA Repeats at SCA8 Locus in South Indian Population. J Neurol Disord 2:176. doi: 10.4172/2329-6895.1000176
Copyright: © 2014 Lone WG, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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Abstract

Spinocerebellar ataxias are a group of phenotypically and genetically heterogenous disorders characterized by progressive degeneration of the cerebellum with overlapping symptoms. A novel form of SCA has been described with triplet repeat expansions in the 3 UTR of the SCA8 gene and is caused by expansion of a CTG/CTA repeat in the ataxin-8 opposite strand gene (ATXN8OS) located on chromosome 13q21. Analysis of CTA/CTG repeats in SCA8 gene was performed in 188 ataxia patients and 100 healthy volunteers without any neurological signs or family history. The repeat length was found to be highly polymorphic. We were unable to find any individual with pathogenic repeat length in SCA8 gene, when we used the already established pathogenic repeat criteria. However, repeats >35 (4.7%) were exclusively found in patients only and none of the controls suggesting that these repeat sizes could be pathogenic for our population. The frequency of LN alleles was also found to be higher than reported for other populations. The percentage of LN alleles at SCA 8 locus was 65% and 47% in patients and controls. In the present study three patients also exhibited repeats lower than the normal range and the pathological implications of these needs to be explored.

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