Expansions of simple tandem repeats are responsible for almost 50 human diseases, the
majority of which are severe, degenerative, and not currently treatable or preventable. In this …

Carriers of premutation alleles (55–200 CGG repeats) of the fragile-X mental retardation 1
(FMR1) gene are often regarded as being clinically uninvolved. However, it is now apparent …

Background More than 50 loci are associated with spinocerebellar ataxia (SCA), and the
most frequent subtypes share nucleotide repeats expansion, especially CAG expansion …

The CGG repeat in the 5′ untranslated region of the fragile X mental retardation 1 gene
(FMR1) exhibits remarkable instability upon transmission from mothers with premutation …

Fragile X syndrome, a common form of inherited mental retardation, is mainly caused by
massive expansion of CGG triplet repeats located in the 5′-untranslated region of the …

Friedreich's ataxia, the most frequent inherited ataxia, is caused, in the vast majority of
cases, by large GAA repeat expansions in the first intron of the frataxin gene. The normal …

We previously reported a 1: 259 prevalence of female carriers of FMR1 premutation-size
alleles (greater than 54 triplet repeats) in the general population. We now have screened 10 …

Since its discovery in 2001, our understanding of fragile X-associated tremor/ataxia
syndrome (FXTAS) has undergone a remarkable transformation. Initially characterized …

(CGG) n repeat expansion in the FMR1 gene is associated with fragile X syndrome and
other disorders. Current methods for FMR1 molecular testing rely on Southern blot analysis …

To better define the nature of FMR1 CGG-repeat expansions, changes in allele sizes for 191
families with fragile X and for 33 families with gray-zone repeats (40-60) were analyzed …