MLPA probe copy number | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Total | SMN1/SMN2 | SMN1 | SMN2 | NAIP | |||||||
Group | N = 212 | Exon1 | Exon4 | Exon6 | Exon8 | Exon7 | Exon8 | Exon7 | Exon8 | Exon13 | Exon5 |
1 | 117(55.2%) | 4-5 | 4-5 | 4 | 4-5 | 2 | 2 | 2 | 2 | 2 | 2 |
2 | 1(0.5%) | 4 | 4 | 4 | 4 | 2 | 3 | 2 | 1 | 2 | 2 |
3 | 1(0.5%) | 4 | 4-5 | 4 | 4 | 2 | 1 | 2 | 3 | 2 | 2 |
4 | 54(25.4%) | 3-4 | 3-4 | 3 | 3-4 | 2 | 2 | 1 | 1 | 2 | 2 |
5 | 1(0.5%) | 3 | 3 | 3 | 3 | 2 | 3 | 1-2 | 0 | 2 | 2 |
6 | 7(3.3%) | 3-4 | 3 | 3-4 | 3-4 | 2 | 2 | 1 | 1 | 2 | 3 |
7 | 1(0.5%) | 3-4 | 3-4 | 3-4 | 3 | 2 | 2 | 1 | 1 | 2 | 4 |
8 | 4(1.9%) | 2 | 2 | 2 | 2 | 2 | 2 | 0 | 0 | 1 | 2 |
9 | 5(2.3%) | 2 | 2-3 | 2-3 | 2-3 | 2 | 2 | 0 | 0 | 1 | 3 |
10 | 1(0.5%) | 3 | 3 | 3-4 | 3-4 | 2 | 2 | 1 | 1 | 1 | 1 |
11 | 5(2.3%) | 4 | 4-5 | 4 | 4 | 2 | 2 | 2 | 2 | 2 | 3 |
12 | 1(0.5%) | 4 | 4-5 | 4 | 4-5 | 2 | 1 | 2 | 3 | 2 | 3 |
13 | 2(0.9%) | 4 | 4-5 | 4 | 4-5 | 2 | 3 | 2 | 1 | 2 | 3 |
14 | 2(0.9%) | 4 | 4 | 4 | 4 | 3 | 3 | 1 | 1 | 2 | 2 |
15 | 3(1.4%) | 4 | 4-5 | 4 | 4-5 | 2 | 2 | 2 | 2 | 2 | 1 |
16 | 2(0.9%) | 4-5 | 5 | 5 | 4-5 | 2 | 2 | 3 | 3 | 2 | 2 |
17 | 1(0.5%) | 4 | 4-5 | 4 | 5 | 1 | 2 | 1 | 2 | 2 | 2 |
18 | 1(0.5%) | 4-5 | 5 | 5 | 4-5 | 3 | 3 | 2 | 2 | 2 | 3 |
19 | 1(0.5%) | 4-5 | 5 | 4-5 | 5 | 3 | 3 | 2 | 2 | 2 | 1 |
20 | 1(0.5%) | 3 | 3-4 | 3-4 | 3-4 | 1 | 1 | 2 | 2 | 2 | 1 |
21 | 1(0.5%) | 4 | 4 | 4 | 4 | 3 | 3 | 1 | 1 | 2 | 3 |