Triplet repeat polymorphism & fragile X syndrome in the Indian context.
Mental 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.
Baskaran
S
S
Department of Molecular Reproduction, National Institute of Mental Health & Neuro Sciences, Bangalore.
Naseerullah
M K
MK
Manjunatha
K R
KR
Chetan
G K
GK
Arthi
R
R
Rao
G V
GV
Girimaji
S R
SR
Srinath
S
S
Sheshadri
S
S
Devi
R R
RR
Brahmachari
V
V
D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D007194:India; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics; D011110:Polymorphism, Genetic; D016601:RNA-Binding Proteins; D018911:Trinucleotide Repeats
D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human