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Das Bhowmik, A. and Rangaswamaiah, S. and Srinivas, G. and Dalal, Ashwin (2015) Molecular genetic analysis of trinucleotide repeat disorders (TRDs) in Indian population and application of repeat primed PCR. European journal of Medical Genetics, 58 (3). pp. 160-167. ISSN 1878-0849

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Abstract

Trinucleotide repeat disorders (TRDs) are a set of genetic disorders caused by trinucleotide repeat expansion in certain genes that exceed the normal, stable threshold, which varies from gene to gene. A dynamic mutation in a healthy gene may increase the repeat count and result in a defective gene. At present there are 14 pathogenic trinucleotide repeat disorders that are known to affect humans. The occurrence of these "triplet repeat diseases" within populations ranges from fairly common (Fragile X syndrome and Myotonic dystrophy type 1) to rare (Dentatorubral-pallidoluysian atrophy). In the present study we report a detailed scenario of TRDs in India mostly in respect to the 9 most common disorders namely; Fragile X syndrome, Myotonic dystrophy type 1, Spinocerebellar ataxia (type 1, 2, 3, 6 and 7), Friedreich Ataxia and Huntington Disease. Copyright © 2014 Elsevier Masson SAS.

Item Type: Article
Uncontrolled Keywords: Trinucleotide repeat disorders; Fragile X syndrome; Myotonic dystrophy type 1; Spinocerebellar ataxia; Friedreich Ataxia and Huntington Disease
Subjects: Genetics
Molecular Biology
Depositing User: Dr P Divakar
Date Deposited: 15 May 2015 11:54
Last Modified: 24 Sep 2015 05:48
URI: http://cdfd.sciencecentral.in/id/eprint/26

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