Table 2 Average ratios observed in different genotypes
From: MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting
Sample type | Retrospective cases | Prospective cases | FMR1 D*:U** range | FMR1 D:U Average (Averege-SD) | Theoretical FMR1 D:U | CI 95% (l. inf. – l. sup.) |
|---|---|---|---|---|---|---|
Males unaffected controls | 17 | 94 | 0-0.05 | 0.005 (0.017) | 0 | 0.003-0.005 |
Males premutation cases | 1 | - | 0-0.02 | NA | 0 | |
Males full mutation cases | 23 | 4 | 0.64-1.37 | 0.89 (0.26) | 1 | 0.867-0.951 |
Males premut/Full mosaic | 1 | - | 0.48-0.85 | 0.66 (NA) | 0-1 | NA |
Males methylat. mosaic (5% Full) | 1 | - | 0.04-0.08 | 0.06 (NA) | 0-1 | NA |
Male foetuses (CVS) normal | 6 | 1 | 0 | NA | 0 | NA |
Male foetuses (CVS) Full mut. | 4 | - | 0.48-1.26 | 0.73 (0.36) | 1 | 0.609-0.883 |
Female normal e premutat. | 5 | 13 | 0.05-0.97 | 0.46 (0.10) | 0.5 | 0.412-0.508 |
Female Full mutation cases | 5 | 7 | 0.1-1.73 | 0.48 (0.20) | 0.75 | 0.350-0.614 |