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. 2017 Jul 19;19:e10. doi: 10.1017/erm.2017.10

Figure 1.

Figure 1.

Fragile X syndrome PGD by combined FMR1 TP-PCR and tetradecaplex marker analysis. (a) FMR1 TP-PCR schematic depicting the annealing pattern of TP-F primer according to CGG repeat structure, and expected electropherograms. Shaded boxes indicate AGG interruptions. (b) Schematic showing STR marker loci relative to FMR1 (CGG)n. (c) FMR1 TP-PCR and tetradecaplex marker PCR electropherograms of representative whole-genome amplified single lymphoblasts. CGG repeat sizes of normal allele(s) determined by TP-PCR are indicated in numbered black/gray boxes. The 55-repeat cut-off for FMR1 expansion detection is represented by a vertical dotted orange line. Numbers in the tetradecaplex marker PCR electropherograms indicate amplicon fragment sizes in bp, and STR names are indicated below their corresponding allele peaks. Red peaks in electropherograms are from the ROX-labeled internal size calibrator. FMR1, Fragile X mental retardation 1; TP-PCR, triplet-primed polymerase chain reaction; NL, normal; PM, premutation; FM, full-mutation; rpts, repeats, including AGG interruptions; RFU, relative fluorescence units.