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01.12.2015 | Research article | Ausgabe 1/2015 Open Access

BMC Musculoskeletal Disorders 1/2015

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

BMC Musculoskeletal Disorders > Ausgabe 1/2015
Ping Fang, Liang Li, Jian Zeng, Wan-Jun Zhou, Wei-Qing Wu, Ze-Yan Zhong, Ti-Zhen Yan, Jian-Sheng Xie, Jing Huang, Li Lin, Ying Zhao, Xiang-Min Xu
Wichtige Hinweise
Ping Fang and Liang Li contributed equally to this work.

Competing interests

The authors declare that they have no competing interests.

Authors’ contributions

XMX conceived and coordinated the study. L Li designed the experiments, analyzed the data and prepared the manuscript. PF, ZYZ and L Lin performed the experiments, assisted with data analysis and manuscript preparation. WJZ and JH recruited the healthy participants. JZ, WQW, TZY, JSX and YZ recruited the SMA patients and collected the samples. All authors read and approved the final manuscript.



Spinal muscular atrophy (SMA) is caused by SMN1 dysfunction, and the copy number of SMN2 and NAIP can modify the phenotype of SMA. The aim of this study was to analyze the copy numbers and gene structures of SMA-related genes in Chinese SMA patients and unrelated healthy controls.


Forty-two Chinese SMA patients and two hundred and twelve unrelated healthy Chinese individuals were enrolled in our study. The copy numbers and gene structures of SMA-related genes were measured by MLPA assay.


We identified a homozygous deletion of SMN1 in exons 7 and 8 in 37 of 42 patients (88.1%); the other 5 SMA patients (11.9%) had a single copy of SMN1 exon 8. The proportions of the 212 unrelated healthy controls with different copy numbers for the normal SMN1 gene were 1 copy in 4 individuals (1.9%), 2 copies in 203 (95.7%) and 3 copies in 5 (2.4%). Three hybrid SMN genes and five genes that lack partial sequences were found in SMA patients and healthy controls. Distributions of copy numbers for normal SMN2 and NAIP were significantly different (P < 0.001) in people with and without SMA.


The copy numbers and gene structures of SMA-related genes were different in Chinese SMA patients and healthy controls.
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