1. Extra Alleles in FMR1 Triple-Primed PCR
Erin N. Wakeling, Fatimah A. Nahhas, Gerald L. Feldman 
The Journal of Molecular Diagnostics 
Volume 16, Issue 6, Pages (November 2014)
DOI: /j.jmoldx
Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

2. Figure 1
Representative electropherograms from a fragile X syndrome carrier testing sample with three alleles. A: Triple-primed PCR result for a female (patient 23) with two predominant peaks of 32 and 33 CGGs and a third peak of 22 CGG repeats. B: Laboratory-developed procedure confirms the triple-primed PCR results. Unlabeled peaks are stutter products and are an artifact of amplifying repetitive DNA.
The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx )
Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

3. Figure 2
CGG repeat sizes of the additional alleles. The distribution appears bimodal with one mode at 19 CGGs and another at 40 CGGs.
The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx )
Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

4. Figure 3
Electropherograms from individuals with additional alleles that had more CGG repeat units than the major alleles. The first CGG peak corresponds to the fifth repeat unit. AGG interruptions are seen as disruptions in CGG peak intensity. CGG peaks corresponding to the major alleles are labeled. A: Patient 12 is homozygous for 30 CGG repeats and has extra peaks at 24 and 40 CGG repeats. B: Patient 16 is homozygous for 30 repeats and has an additional peak at 35 repeats. C: Patient 17 is homozygous for 29 repeats and has an additional peak at 37 repeats. D: Patient 24 is heterozygous for 29 and 30 repeats and has an additional peak at 39 repeats. E: Patient 38 is heterozygous for 29 and 32 repeats and has an extra peak at 42 repeats. F: Patient 41 is heterozygous for 20 and 29 repeats with an extra peak at 42 repeats. G: Patient 43 is heterozygous for 24 and 30 repeats with an extra peak at 40 repeats. H: Patient 54 is heterozygous for 29 and 42 repeats and has additional peaks at 36 and 52 repeats. I: Enlargement of the CGG peaks for patient 54. A total of 52 CGG peaks can be seen in the electropherogram.
The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx )
Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions