Table 2. Results from experiments measuring SMN1/SMN2 content in samples simulating clinical samples for SMA diagnosis.
Actual SMN1 aliquot |
Measured SMN1 aliquot |
Actual SMN2 aliquot |
Measured SMN2 aliquot |
0 | 0.03 ± 0.04 (n = 4) | 2 | 2.4 ± 0.6 (n = 4) |
1 | 1.2 ± 0.2 (n = 3) | 3 | 2.6 ± 0.2 (n = 3) |
2 | 2.6 ± 0.4 (n = 3) | 2 | 2.6 ± 0.3 (n = 3) |
3 | 3.4 ± 0.2 (n = 3) | 1 | 1.2 ± 0.2 (n = 3) |
Samples were prepared by mixing crude PCR mixtures that contained either SMN1 or SMN2, in various ratios. Each aliquot was 5 µl into a total final solution of 500 µl.