Skip to main content

Advertisement

Table 4 Copy numbers of SMA-related genes in 212 Chinese healthy individuals determined by MLPA

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

   Total Gene copy number
Pattern Group N = 212 NormalSMN1gene NormalSMN2gene NormalNAIPgene HybridSMNgene Gene lacking partial sequences
A 1 117(55.2%) 2 2 2 0 0
B 2 1(0.5%) 2 1 2 1 e 0
C 3 1(0.5%) 1 2 2 1 h 0
D 4 54(25.5%) 2 1 2 0 0
E 5 1(0.5%) 2 0 2 1 e 0
F 6/7 8(3.8%) 2 1 2 0 1 g
G 8/9 9(4.2%) 2 0 1 0 1 g
H 10 1(0.5%) 2 1 1 0 0
I 11 5(2.3%) 2 2 2 0 1 g
J 12 1(0.5%) 1 2 2 1 h 1 g
K 13 2(0.9%) 2 1 2 1 e 1 g
L 14 2(0.9%) 3 1 2 0 0
M 15 3(1.4%) 2 2 1 0 1 a
N 16 2(0.9%) 2 3 2 0 0
O 17 1(0.5%) 1 1 2 0 1 b and 1 c
P 18 1(0.5%) 3 2 2 0 1 g
Q 19 1(0.5%) 3 2 1 0 1 a
R 20 1(0.5%) 1 2 1 0 1 a
S 21 1(0.5%) 3 1 2 0 1 g
  1. a:NAIP gene lacking exon 5, b:SMN1 gene lacking exon 7, c:SMN2 gene lacking exon 7, e:Hybrid SMN gene in which exon 8 of SMN2 was converted to exon 8 of SMN1, g:NAIP gene lacking exon13, h:Hybrid SMN gene in which exon 8 of SMN1 was converted to exon 8 of SMN2.