Triplet repeat polymorphism & fragile X syndrome in the Indian context.

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dc.contributor.authorBaskaran, Sen_US
dc.contributor.authorNaseerullah, M Ken_US
dc.contributor.authorManjunatha, K Ren_US
dc.contributor.authorChetan, G Ken_US
dc.contributor.authorArthi, Ren_US
dc.contributor.authorRao, G Ven_US
dc.contributor.authorGirimaji, S Ren_US
dc.contributor.authorSrinath, Sen_US
dc.contributor.authorSheshadri, Sen_US
dc.contributor.authorDevi, R Ren_US
dc.contributor.authorBrahmachari, Ven_US
dc.date.accessioned1998-01-08en_US
dc.date.accessioned2009-05-27T07:32:02Z
dc.date.available1998-01-08en_US
dc.date.available2009-05-27T07:32:02Z
dc.date.issued1998-01-08en_US
dc.description.abstractMental retardation due to fragile X syndrome is one of the genetic disorders caused by triplet 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.en_US
dc.description.affiliationDepartment of Molecular Reproduction, National Institute of Mental Health & Neuro Sciences, Bangalore.en_US
dc.identifier.citationBaskaran S, Naseerullah MK, Manjunatha KR, Chetan GK, Arthi R, Rao GV, Girimaji SR, Srinath S, Sheshadri S, Devi RR, Brahmachari V. Triplet repeat polymorphism & fragile X syndrome in the Indian context. Indian Journal of Medical Research. 1998 Jan; 107(): 29-36en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/21086
dc.language.isoengen_US
dc.source.urihttps://icmr.nic.in/ijmr/ijmr.htmen_US
dc.subject.meshFemaleen_US
dc.subject.meshFragile X Mental Retardation Proteinen_US
dc.subject.meshFragile X Syndrome --geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshIndiaen_US
dc.subject.meshMaleen_US
dc.subject.meshNerve Tissue Proteins --geneticsen_US
dc.subject.meshPolymorphism, Geneticen_US
dc.subject.meshRNA-Binding Proteinsen_US
dc.subject.meshTrinucleotide Repeatsen_US
dc.titleTriplet repeat polymorphism & fragile X syndrome in the Indian context.en_US
dc.typeJournal Articleen_US
dc.typeResearch Support, Non-U.S. Gov'ten_US
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