Article
An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene.
The Journal of molecular diagnostics : JMD - 1 Nov 2005
Saluto Alessandro, Brussino Alessandro, Tassone Flora, Arduino Carlo, Cagnoli Claudia, Pappi Patrizia, Hagerman Paul, Migone Nicola, Brusco Alfredo
Abstract excerpt
Several diagnostic strategies have been applied to the detection of FMR1 gene repeat expansions in fragile X syndrome. Here, we report a novel polymerase chain reaction-based strategy using the Expand Long Template PCR System (Roche Diagnostics, Mannheim, Germany) and the osmolyte betaine. Repeat expansions up to approximately 330 CGGs in males and up to at least approximately 160 CGGs in carrier women could be...
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