alexa A Study on Triplet Repeat Expansion Disorders in Western Indian Population
ISSN: 2161-1041

Hereditary Genetics: Current Research
Open Access

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Research Article

A Study on Triplet Repeat Expansion Disorders in Western Indian Population

Sheth J1*, Shah S2, Patel H1, Bhavsar R1, Bhatt K1 and Sheth F1

1Department of Biochemical and Molecular Genetics, FRIGE’s Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India

2Department of Neurology, Sheth VS Hospital and NHL Medical College, Ahmedabad-380015, India

*Corresponding Author:
Jayesh Sheth
Department of Biochemical and Molecular Genetics
FRIGE’s Institute of Human Genetics, FRIGE House
Satellite, Ahmedabad-380015, India
Tel: 079-26921414
Fax: 079-26921415
E-mail: [email protected]

Received Date: February 02, 2015; Accepted Date: February 16, 2015; Published Date: February 19, 2015

Citation: Sheth J, Shah S, Patel H, Bhavsar R, Bhatt K, et al. (2015) A Study on Triplet Repeat Expansion Disorders in Western Indian Population. Hereditary Genet 4:141. doi: 10.4172/2161-1041.1000141

Copyright: © 2015 Sheth J, 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.



Triplet repeat expansion disorders (TRED) are one of the commonest causes of hereditary neuropathy with thirty different heredity diseases due to increased number of trinucleotide repeats above certain threshold in the genomic DNA. The degree of disease aggressiveness depends on the number of repeats and resultant alteration in the expression of several genes. Moreover, mechanism of these disorders differs depending on the region of trinucleotide expansion (coding vs. non-coding regions). Present study comprises of 172 individuals suspected of triplet repeat expansion disorders such as Huntington’s disease (HD), Spinocerebellar ataxia (SCA), Friedreich’s ataxia (FA) and Myotonic dystrophy (MD) from Gujarat (Western Indian population) to know its frequency and clinical manifestations. Among them, 78 (45.34%) individuals were confirmed to have one of these four disorders. The age of onset varied from 11-45 years. SCA was the most common triplet repeat expansion disorder with a frequency of 43.60% followed by HD in 23.1%, MD in 21.8% and FA in 11.5% of patients. In addition, SCA2 was found to be the most common hereditary neuropathy in Western India.


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