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Triplet repeat polymorphism & fragile X syndrome in the Indian context

Baskaran, S and Naseerullah, MK and Manjunatha, KR and Chetan, GK and Arthi, R and Rao, GVB and Girimaji, SR and Srinath, S and Sheshadri, S and Devi, RR and Brahmachari, V (1998) Triplet repeat polymorphism & fragile X syndrome in the Indian context. In: Indian Journal of Medical Research, 107 . pp. 29-36.

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Mental retardation due to fragile X syndrome is one of the genetic disorders caused by tripler repeat expansion, CGG repeat involved in this disease is known to exhibit polymorphism even among normal individuals. Here we describe the development of suitable probes for detection of polymorphism in CGG repeat at FMR1 locus as well as the diagnosis of fragile X syndrome. Using these methods polymorphism at the FMR1 locus has been examined in 161 individuals. Ninety eight patients with unclassified mental retardation were examined, of whom 7 were found to have the expanded (CGG) allele at the FMR1 locus, The hybridization pattern for two patients has been presented as representative data.

Item Type: Journal Article
Publication: Indian Journal of Medical Research
Publisher: Indian council of medical research
Additional Information: Copyright for this article belongs to Indian council of medical research.
Department/Centre: Division of Biological Sciences > Molecular Reproduction, Development & Genetics
Date Deposited: 11 Jan 2010 12:41
Last Modified: 11 Jan 2010 12:41
URI: http://eprints.iisc.ac.in/id/eprint/24850

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