MLPA probe copy number | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Total | SMN1/SMN2 | SMN1 | SMN2 | NAIP | |||||||
Group | N = 42 | Exon1 | Exon4 | Exon6 | Exon8 | Exon7 | Exon8 | Exon7 | Exon8 | Exon13 | Exon5 |
1 | 3(7.1%) | 2 | 2 | 2 | 2 | 0 | 0 | 2 | 2 | 1 | 1 |
2 | 3(7.1%) | 2 | 2 | 2 | 2 | 0 | 0 | 2 | 2 | 1 | 0 |
3 | 1(2.4%) | 2 | 2 | 2 | 2 | 0 | 1 | 2 | 1 | 1 | 0 |
4 | 1(2.4%) | 2 | 2 | 2 | 2 | 0 | 0 | 2 | 2 | 2 | 1 |
5 | 1(2.4%) | 3 | 3 | 3-4 | 3 | 0 | 0 | 3 | 3 | 2 | 1 |
6 | 1(2.4%) | 3 | 3 | 3-4 | 3 | 0 | 0 | 3 | 3 | 2 | 2 |
7 | 4(9.5%) | 3 | 3 | 3 | 3-4 | 0 | 0 | 3 | 3 | 2 | 2 |
8 | 2(4.8%) | 4 | 4 | 4 | 4 | 0 | 0 | 4 | 4 | 2 | 2 |
9 | 1(2.4%) | 3 | 3-4 | 3 | 3 | 0 | 1 | 2 | 2 | 2 | 1 |
10 | 2(4.8%) | 3 | 3-4 | 3-4 | 3 | 0 | 0 | 2 | 3 | 2 | 2 |
11 | 9(21.3%) | 3 | 3-4 | 3 | 3-4 | 0 | 0 | 3 | 3 | 2 | 1 |
12 | 6(14.2%) | 3 | 3 | 3 | 3 | 0 | 0 | 3 | 3 | 1 | 1 |
13 | 1(2.4%) | 3 | 3 | 3 | 3 | 0 | 1 | 3 | 2 | 1 | 1 |
14 | 1(2.4%) | 2 | 2 | 2 | 2 | 0 | 1 | 2 | 1 | 1 | 1 |
15 | 1(2.4%) | 2-3 | 2-3 | 3 | 4 | 0 | 0 | 3 | 4 | 2 | 2 |
16 | 2(4.8%) | 2-3 | 3 | 3 | 3-4 | 0 | 0 | 3 | 4 | 2 | 1 |
17 | 2(4.8%) | 1-2 | 2 | 2 | 2 | 0 | 0 | 2 | 2-3 | 2 | 2 |
18 | 1(2.4%) | 2-3 | 2-3 | 3 | 3 | 0 | 1 | 3 | 2 | 2 | 1 |