Table 1.
Comparison of mPCR-CE and SB analyses of repeat length and methylation status for 5 male and 3 female cell line DNA samples. Samples were selected based on submitted repeat length and genotype. The samples listed in bold are shown in Fig. 3 with their corresponding SB image and electropherogram. mPCR-CE, FMR1 methylation PCR-Capillary Electrophoresis; SB, Southern blot.
| Sample Information | SB Analysis | mPCR-CE | |||||
|---|---|---|---|---|---|---|---|
| Sample ID | Sample Genotypea |
Sex | Catalog Repeat Length (CGG) |
Estimated Size (~CGG) |
Categorical Methylation (full, partial, or non) |
mPCR-CE Repeat length |
Methylation % on CE |
| NA06892 | PM | M | 93 (80-85) | ~110 | Non | 90 | 2% |
| NA09145 | FM | M | full | 660~990 | Full | >250 | 109% |
| NA06852 | FM | M | >200 | 395 | Full | >250 | 108% |
| NA04025 | FM | M | 645 | 795 | Full | >250 | 113% |
| NA09237 | FM | M | 931-940 | 1062 | Full | >250 | 109% |
| NA20241 | PM | F | 29/93-110 | Normal | Partial | 29 | 24% |
| 103-130 | Partial | 88 | 83% | ||||
| 111 | 83% | ||||||
| 116 | 0% | ||||||
| NA06896 | PM | F | 23/95-140 | Normal | Partial | 23 | 21% |
| 148-201 | Partial | 112 | 69% | ||||
| 136 | 96% | ||||||
| 153 | 0% | ||||||
| 175 | 0% | ||||||
| >250 | 0% | ||||||
| NA07537 | FM | F | 28/336 | Normal | Partial | 29 | 8% |
| 329 | Full | >250 | 100% | ||||
a
Sample genotype is based on the longest allele within the sample: NOR=normal (<45 CGG);
INT=intermediate (45-54 CGG); PM=premutation (55-200 CGG); FM=full mutation (>200 CGG).