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Table 2 Copy numbers of SMA-related genes in 42 Chinese SMA patients 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 = 42 NormalSMN1gene NormalSMN2gene NormalNAIPgene HybridSMNgene Gene lacking partial sequences
A 1 3(7.1%) 0 2 1 0 0
B 2 3(7.1%) 0 2 0 0 1a
C 3 1(2.4%) 0 1 0 1e 1a
D 4 1(2.4%) 0 2 1 0 1a
E 5 1(2.4%) 0 3 1 0 1a
F 6/7 5(11.9%) 0 3 2 0 0
G 8 2(4.8%) 0 4 2 0 0
H 9 1(2.4%) 0 2 1 0 1a and 1b
I 10 2(4.8%) 0 2 2 0 1c
J 11 9(21.3%) 0 3 1 0 1a
K 12 6(14.2%) 0 3 1 0 0
L 13 1(2.4%) 0 2 1 1e 0
M 14 1(2.4%) 0 1 1 1e 0
N 15 1(2.4%) 0 3 2 0 1d
O 16 2(4.8%) 0 3 1 0 1a and 1d
P 17 2(4.8%) 0 2 2 0 0
Q 18 1(2.4%) 0 2 1 1f 1a
  1. a:NAIP gene lacking exon 5, b:SMN1 gene lacking exon7, c:SMN2 gene lacking exon7, d:SMN2 gene lacking exon 1 to exon 7, e:Hybrid SMN gene in which exon 8 of SMN2 gene was converted to exon 8 of SMN1, f:Hybrid SMN gene in which exon 7 of SMN1 gene was converted to exon 7 of SMN2.