Figure 3.

Automated fluorescence analysis of the PCR products for premutation and full mutation subjects. PCR reactions were performed using 1.7 mol/L betaine. Panels 1 and 2, premutation (male) carriers with alleles of 83 and 90 CGG repeats, respectively. Panels 3 to 5, full mutation males; descending array of peaks visible from 240 to 500 bp. Panel 6, full mutation carrier female with 35/>400 CGG repeats; a main offscale peak corresponds to the normal 35-CGG allele, and a set of low-intensity stutter bands is generated by the full mutation. Panel 7, full mutation mosaic male; the profile is similar to that of a full mutation carrier female in panel 6.