Skip to main content

Advertisement

Table 3 The MLPA probe copy numbers of SMA-related genes in 212 Chinese healthy individuals

From: Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls

   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