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

Table 2 Copy numbers of SMA-related genes in 42 Chinese SMA patients determined by MLPA

		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	1^a
C	3	1(2.4%)	0	1	0	1^e	1^a
D	4	1(2.4%)	0	2	1	0	1^a
E	5	1(2.4%)	0	3	1	0	1^a
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	1^a and 1^b
I	10	2(4.8%)	0	2	2	0	1^c
J	11	9(21.3%)	0	3	1	0	1^a
K	12	6(14.2%)	0	3	1	0	0
L	13	1(2.4%)	0	2	1	1^e	0
M	14	1(2.4%)	0	1	1	1^e	0
N	15	1(2.4%)	0	3	2	0	1^d
O	16	2(4.8%)	0	3	1	0	1^a and 1^d
P	17	2(4.8%)	0	2	2	0	0
Q	18	1(2.4%)	0	2	1	1^f	1^a

^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.

ISSN: 1471-2474