Figure 2.

CGG repeat primed PCR produces both full-length gene-specific FMR1 amplicons as well as triplet repeat-specific products that support absolute repeat quantification. A: Comparison of gene-specific PCR (agarose gel image) and repeat primed PCR (CE) of male cell line gDNA templates. Gene-specific PCR was performed as described previously.⁸B: Comparison of gene-specific PCR (agarose gel image) and repeat primed PCR (CE) of female cell line gDNA templates. Inset: graphs offer a higher resolution view of the underlying data (see arrows). Determination of the number of CGG repeats was provided through absolute quantification, and compared with fragment sizing of the full-length amplicon (Table 1). The Coriell Cell Repositories catalog number for each template is provided on each electropherogram. The CGG number indicated with the corresponding arrow is the repeat number determined by counting the triplet repeat product peaks, whereas the number placed by the prominent gene-specific peak is the repeat number computed from fragment sizing of the full-length amplicon. PM or FM, gene-specific amplicons corresponding to the amplification of premutation or full mutation alleles, respectively.