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