Table 2.
Genotype (X:Y) | N* | MC(SMN1)X:Y | MN(SMN2)X:Y | SD† of N(SMN2) | MC(SMN2)X:Y | %SMN2X:Y | PBX:Y |
---|---|---|---|---|---|---|---|
2:0 | 13 | 1.902 | 0 | 0 | 0 | 0 | N/A‡ |
1:1 | 27 | 1.018 | 1.028 | 0.088 | 0.724 | 6.6% | 0.832 |
2:1 | 53 | 1.973 | 0.962 | 0.109 | 0.678 | 3.6% | 0.788 |
3:1 | 11 | 2.938 | 0.948 | 0.107 | 0.668 | 2.9% | 0.792 |
1:2 | 57 | 1.034 | 2.045 | 0.156 | 1.440 | 8.0% | 0.801 |
2:2 | 81 | 2.033 | 2.001 | 0.184 | 1.409 | 6.5% | 0.810 |
3:2 | 6 | 2.999 | 2.069 | 0.071 | 1.457 | 4.9% | 0.843 |
1:3 | 16 | 1.063 | 3.181 | 0.199 | 2.241 | 10.0% | 0.822 |
2:3 | 3 | 2.234 | 3.269 | 0.271 | 2.302 | 14.9% | 0.923 |
1:4 | 4 | 1.097 | 4.057 | 0.184 | 2.857 | 13.3% | 0.790 |
Each symbol is described in Table 1 . Note that PBX:Y (SMN2 PCR efficiency relative to SMN1 PCR efficiency) is approximately 0.8, regardless of SMN genotype, except for the 2:3 (N = 3).
number of cases;
standard deviation;
not applicable.