Supplemental Figure 4.  Gene-specific
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Fm, Full Mutation Mosaic PowerPoint PPT Presentation


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Fm, Full Mutation Mosaic

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Fm full mutation mosaic

Supplemental Figure 4. Gene-specific FMR1 PCR Enables Detection of Low Abundance Expanded Alleles. A)FMR1 Southern blot data for 5 clinical specimens. The threshold for full mutation (FM, >200 CGG) unmethylated and methylated alleles is designated by the black dotted line. Note that the expanded alleles represented in samples #118 and #125 were very faint, but these were identified as full mutations. B) Corresponding FMR1 PCR data, as visualized by AGE. The threshold for a full mutation (FM) is indicated by the white dotted line. C) Corresponding FMR1 PCR data, as visualized by CE. The threshold for a full mutation (FM) is marked with the black vertical line. To facilitate data interpretation, the Y-axis scale was set to best suit the allele representations for each specimen: #22 (150 RFU), #101 (200 RFU), #63 (1000 RFU), #118 (1100 RFU), and #125 (1100 RFU). Note that the full mutations in #118 and #125 are readily discerned. The same gDNA sample was used for all three evaluations (Southern blot, PCR/AGE, and PCR/CE).


Fm full mutation mosaic

A

C

#22 #101 #63 #118 #125

PCR/CE Data

#22

Normal Premutation Full Mutation

Int

Southern Blot Data

FM

Me

FM

UnMe

FM

#101

Southern PM PM FM FM FM

Call

#63

B

PCR/AGE Data

#118

#125

PCR Call Fm Fm Fm Fm Fm

Fm, Full Mutation Mosaic


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