Triplet repeat polymorphism & fragile X syndrome in the Indian context
Baskaran, S.; Naseerullah, M.K.; Manjunatha, K.R.; Chetan, G.K.; Arthi, R.; Rao, G.V.; Girimaji, S.R.; Srinath, S.; Sheshadri, S.; Devi, R.R.; Brahmachari, V.
Indian Journal of Medical Research 107: 29-36
1998
ISSN/ISBN: 0019-5340 PMID: 9529778 Document Number: 493233
Mental retardation due to fragile X syndrome is one of the genetic disorders caused by triplet repent 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.