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JMD 2005, Vol. 7, No. 5
Copyright © 2005 American Society for Investigative Pathology & Association for Molecular Pathology

An Enhanced Polymerase Chain Reaction Assay to Detect Pre- and Full Mutation Alleles of the Fragile X Mental Retardation 1 Gene

Alessandro Saluto*{dagger}, Alessandro Brussino*, Flora Tassone{ddagger}, Carlo Arduino{dagger}, Claudia Cagnoli*, Patrizia Pappi{dagger}, Paul Hagerman{ddagger}, Nicola Migone*{dagger} and Alfredo Brusco*{dagger}

From the Department of Genetics Biology and Biochemistry, * University of Turin, Italy; the Azienda Ospedaliera San Giovanni Battista di Torino, {dagger} Struttura Complessa Genetica Medica, Turin, Italy; and the Department of Biochemistry and Molecular Medicine, {ddagger} University of California, Davis, California

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 ~330 CGGs in males and up to at least ~160 CGGs in carrier women could be easily visualized on ethidium bromide agarose gels. We also demonstrated that fluorescence analysis of polymerase chain reaction products was a reliable tool to verify the presence of premutation and full mutation alleles both in males and in females. This technique, primarily designed to detect premutation alleles, can be used as a routine first screen for expanded FMR1 alleles.




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